Huntington Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

HUNTINGTON DISEASE A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

ii

ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright ©2004 by ICON Group International, Inc. Copyright ©2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Huntington Disease: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-597-84455-0 1. Huntington Disease-Popular works. I. Title.

iii

Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

iv

Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on huntington disease. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

v

About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

vi

About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

vii

Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON HUNTINGTON DISEASE ............................................................................ 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Huntington Disease ...................................................................... 4 E-Journals: PubMed Central ....................................................................................................... 12 The National Library of Medicine: PubMed ................................................................................ 14 CHAPTER 2. DISSERTATIONS ON HUNTINGTON DISEASE .............................................................. 59 Overview...................................................................................................................................... 59 Dissertations on Huntington Disease.......................................................................................... 59 Keeping Current .......................................................................................................................... 60 CHAPTER 3. CLINICAL TRIALS AND HUNTINGTON DISEASE ......................................................... 61 Overview...................................................................................................................................... 61 Recent Trials on Huntington Disease.......................................................................................... 61 Keeping Current on Clinical Trials ............................................................................................. 62 CHAPTER 4. PATENTS ON HUNTINGTON DISEASE ......................................................................... 65 Overview...................................................................................................................................... 65 Patents on Huntington Disease ................................................................................................... 65 Patent Applications on Huntington Disease ............................................................................... 67 Keeping Current .......................................................................................................................... 71 CHAPTER 5. BOOKS ON HUNTINGTON DISEASE............................................................................. 73 Overview...................................................................................................................................... 73 Book Summaries: Federal Agencies.............................................................................................. 73 Chapters on Huntington Disease................................................................................................. 74 CHAPTER 6. PERIODICALS AND NEWS ON HUNTINGTON DISEASE ............................................... 77 Overview...................................................................................................................................... 77 News Services and Press Releases................................................................................................ 77 Academic Periodicals covering Huntington Disease ................................................................... 79 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 83 Overview...................................................................................................................................... 83 NIH Guidelines............................................................................................................................ 83 NIH Databases............................................................................................................................. 85 Other Commercial Databases....................................................................................................... 87 The Genome Project and Huntington Disease............................................................................. 87 APPENDIX B. PATIENT RESOURCES ................................................................................................. 93 Overview...................................................................................................................................... 93 Patient Guideline Sources............................................................................................................ 93 Finding Associations.................................................................................................................... 95 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 97 Overview...................................................................................................................................... 97 Preparation................................................................................................................................... 97 Finding a Local Medical Library.................................................................................................. 97 Medical Libraries in the U.S. and Canada ................................................................................... 97 ONLINE GLOSSARIES................................................................................................................ 103 Online Dictionary Directories ................................................................................................... 103 HUNTINGTON DISEASE DICTIONARY ............................................................................... 105 INDEX .............................................................................................................................................. 143

1

FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with huntington disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about huntington disease, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to huntington disease, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on huntington disease. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to huntington disease, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on huntington disease. The Editors

1

From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

3

CHAPTER 1. STUDIES ON HUNTINGTON DISEASE Overview In this chapter, we will show you how to locate peer-reviewed references and studies on huntington disease.

The Combined Health Information Database The Combined Health Information Database summarizes studies across numerous federal agencies. To limit your investigation to research studies and huntington disease, you will need to use the advanced search options. First, go to http://chid.nih.gov/index.html. From there, select the “Detailed Search” option (or go directly to that page with the following hyperlink: http://chid.nih.gov/detail/detail.html). The trick in extracting studies is found in the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Journal Article.” At the top of the search form, select the number of records you would like to see (we recommend 100) and check the box to display “whole records.” We recommend that you type “huntington disease” (or synonyms) into the “For these words:” box. Consider using the option “anywhere in record” to make your search as broad as possible. If you want to limit the search to only a particular field, such as the title of the journal, then select this option in the “Search in these fields” drop box. The following is what you can expect from this type of search: •

Severity of Cognitive Impairment in Juvenile and Late-Onset Huntington Disease Source: Archives of Neurology. 55: 835-843. June 1998. Summary: This journal article describes a study of the severity of cognitive impairment and the influence of motor and cognitive deficits on functional disability across different ages of onset of Huntington's disease (HD). The participants were 71 patients seen at the HD program in the Departments of Neurology and Genetics at the Fundacion Jimenez Diaz in Madrid, Spain. The patients were divided into three groups based on onset of motor symptoms: juvenile onset (at age 25 years or younger, n=15), adult onset (at age 26 to 50 years, n=43), and late onset (at age 51 years or older, n=13). Healthy controls, matched on age and education to groups 1 and 3, also were studied. All patients were assessed with a battery of neuropsychological tests, measures of motor and functional

4

Huntington Disease

abilities, and a genetic analysis to determine the number of CAG trinucleotide repeats. Patients with juvenile onset had the longest CAG repeat lengths and those with late onset had the shortest. Cognitive impairment was less severe in the juvenile-onset group than at other ages of onset. Visuospatial function was more impaired in patients with late onset, and prefrontal functions were more impaired in those with juvenile onset. Functional disability was associated with global cognitive status in patients with late onset, and with motor deficits and prefrontal dysfunction in those with early onset. 3 figures, 5 tables, 54 references. •

Electrophysiological Analysis of Altered Cognitive Functions in Huntington Disease Source: Archives of Neurology. 54: 1089-1098. September 1997. Summary: This journal article describes an electrophysiological analysis of altered cognitive functions in Huntington's disease (HD) in the domains of visual processing and memory. Nine patients with HD and 9 controls matched for age, sex, and education participated. Cognitive event-related potentials (ERPs) were measured, using an electroencephalogram, under three conditions: a parallel visual search task, a serial visual search task, and a word-recognition memory task. The components of averaged ERPs were quantified by latency and amplitude measures, and analyzed along with behavioral measures (search time, hit rate, and recognition accuracy). The results suggest that compared with controls, the patients with HD showed a significant delay in the early visual components and abnormalities in the ERP indexes of word recognition and target detection. These changes were accompanied by a marked delay in search times and a greatly reduced accuracy on the memory task. The ERPs on the memory task were different from those found in studies of patients with Alzheimer's disease, suggesting a different neural basis for the deficits in HD. 6 figures, 4 tables, 77 references.

Federally Funded Research on Huntington Disease The U.S. Government supports a variety of research studies relating to huntington disease. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to huntington disease. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore huntington disease. The following is typical of the type of information found when searching the CRISP database for huntington disease:

2 Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

Studies

•

Project Title: FAMILY DIMENSIONS

EXPERIENCE

OF

GENETIC

TESTING:

5

ETHICAL

Principal Investigator & Institution: Vanriper, Marcia L.; None; Ohio State University 1960 Kenny Road Columbus, Oh 43210 Timing: Fiscal Year 2002; Project Start 01-AUG-2000; Project End 31-AUG-2004 Summary: (from applicant's description) Genetic testing is becoming more widely applied. Nurses will be offering, reporting results, and interpreting genetic tests to families; in addition they will be caring for families dealing with the complex personal, social, and ethical issues associated with genetic testing. There is little research available to guide practice in this area. The candidate proposes a study combining qualitative and quantitative methods to explore how families define, manage, and reason about the ethical issues that emerge during four different types of genetic testing (triple marker screening for Down syndrome, carrier testing for cystic fibrosis, mutation analysis for Huntington disease [HD], and BRCA1 testing for cancer risk). The Family Management Style (FMS) Model will guide the study. There are 6 specific aims. Numbers 1 and 2 are related to family member's definition, management, and reasoning about moral issues. Number 3 involves comparison of family members from the same family. Number 4 concerns how responses differ according to the type of test. Number 5 involves description of distinct family management styles of decision-making. Numbers 6 is designed to explore management style and psychological well being of the tested family member. Participants will be members of 40 families (10 from each of the four types of testing). Inclusion criteria include having undergone one of the 4 selected genetic tests or being a family member of such a person. The term family is defined and members are self identified. Families will only be studied if both the tested member and at least one other family member agree to participate. An interview guide will be developed based on the FMS model, the literature on genetic testing, clinical experience of the investigator, and Rest's work on moral judgement. The Defining Issues Test (DIT) will be used to assess patterns of moral reasoning. The tested family member also will complete Ryff's measure of psychologica well being, and the POMS to measure psychological distress. Data will be analyzed following guidelines and techniques of Knafl and Ayers, Knafl and Webster, Miles and Huberman, and Patton. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENETIC ANALYSIS USING SPERM TYPING Principal Investigator & Institution: Arnheim, Norman; Professor; Biological Sciences; University of Southern California 2250 Alcazar Street, Csc-219 Los Angeles, Ca 90033 Timing: Fiscal Year 2002; Project Start 01-SEP-1985; Project End 31-MAR-2006 Summary: This proposal seeks to study fundamental questions concerning mutation and recombination events that lead to human disease. One aim is to determine whether expansions of the CAT/CTG tracts found in Huntington disease patients occur in germline mitotic cells or following the initiation of meiosis. Studies are also proposed to examine whether the proximity or orientation of a CAG/CTG tract relative to an origin of DNA replication influences expansion size or frequency and whether this accounts for the marked inter-locus variation in expansion mutation susceptibility. Two other aims also focus on mutation. One aim will examine human sperm to determine whether the mutation that causes achondroplasia, the most common cause of dwarfism, increases with the age of the father as predicted by population studies. Another will examine the role played by members of the MutL DNA repair protein family on mononucleotide repeat slippage mutations. In humans this kind of mutation has been shown to

6

Huntington Disease

inactivate important genes in many tumors from patients with the a familial colon cancer (HNPCC). The last aim seeks to directly measure the effects of sequence length and sequence similarity on the frequency of unequal recombination between repeated sequences in the human genome. Such events have been shown to lead to a variety of human disease syndromes. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENETIC AND NEUROBIOLOGICAL STUDIES OF HUNTINGTON DISEASE Principal Investigator & Institution: Myers, Richard; Massachusetts General Hospital 55 Fruit St Boston, Ma 02114 Timing: Fiscal Year 2002 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: INSTABILITY OF TRIPLET REPEATS IN MAMMALIAN CELLS Principal Investigator & Institution: Wilson, John; Assistant Professor; Biochem and Molecular Biology; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030 Timing: Fiscal Year 2002; Project Start 01-APR-1987; Project End 30-NOV-2005 Summary: Expansions of trinucleotide (triplet) repeats at specific sites in the human genome cause a number of neurological diseases, including myotonic dystrophy, Huntington disease, fragile X syndrome, and several others. At the myotonic dystrophy locus, normal individuals have up to 30-40 CTG/CAG repeats, whereas affected individuals may have up to several thousand repeats. CTG/CAG repeats have a propensity to form a variety of stable secondary structures in vitro, and it is thought that these unusual structures interfere with aspects of DNA metabolism in cells, leading to repeat expansion and disease. Studies in E. coli and S. cerevisiae have shown that triplet repeat stability is sensitive to processes that expose single strands of DNA, including transcription, replication, repair, and recombination. This application seeks to develop novel selective systems for investigation CTG/CAG triplet repeat stability in vertebrate cells. Instability during recombination and the effects of triplet repeats on the recombination processes, which have already been demonstrated at the APRT locus in CHO cells, will be defined using a variety of tandem duplication substrates, I-SceImediated double-strand breaks, and ERCC1-deficient cells. Instability of repeats due to all causes will be investigated using a novel, direct-selection assay based on the lengthdependent effects on gene expression by intronic CAG repeats, which have already been demonstrated. Long repeats placed in the intron of the HPRT minigene, which render it HPRT , can be used to select for repeat contractions (HPRT- to HPRT+). Similarly, short CAG repeats that are compatible with gene expression can be used to select for repeat contractions (HPRT- to HPRT+). Similarly, show CAG repeats that are compatible with gene expression can be used to select for expansions (HPRT- to HPRT+). The boundaries for these length- dependent effects will be defined, the mechanism of interference will be determined, and appropriate CAG-containing, HPRT-minigene substrates will be deposited in the chromosomes of vertebrate cells. These substrates will allow testing of the effects of genes involved in replication, repair, and in recombination and cell treatments that stress these processes. In summary, we propose and integrated and comprehensive set of experiments to define the molecular basis of the CTG/CAG repeat instability that underlies myotonic dystrophy and other neurological diseases. These studies will also provide a set of experimental reagents that will e useful in the design

Studies

7

and evaluation of potential therapeutic strategies directed at preventing expansion or promoting contraction of CTG/CAG repeats. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: LONGITUDINAL STUDIES AMONG AT-RISK HD GENE CARRIERS Principal Investigator & Institution: Foroud, Tatiana M.; Associate Professor; Medical and Molecular Genetics; Indiana Univ-Purdue Univ at Indianapolis 620 Union Drive, Room 618 Indianapolis, in 462025167 Timing: Fiscal Year 2002; Project Start 01-APR-2002; Project End 31-MAR-2007 Summary: (provided by applicant) To identify and quantify changes among presymptomatic Huntington disease gene carriers who had not yet developed definite chorea, we performed the largest, study of individuals at-risk for HD (n=657) Subtle abnormalities in oculomotor, extrapyramidal and pyramidal motor, and cognitive measures were identified. We propose to reexamine this unique sample of at-risk individuals using an expanded test battery that includes more sensitive and specific quantitative measures for each subset of variables for which significant differences between presymptomatic gene carriers and nongene carriers were initially observed. These new measures increase the power of our proposed longitudinal studies of the rate of change among presymptomatic gene carriers as they approach the manifestation of clinically diagnosable HD. These novel studies are designed to: 1) Further delineate the deficits observed in the subclinical and early symptomatic phase of disease; 2) measure the rate of increasing abnormality among presymptomatic gene carriers; 3) investigate the interrelationships among the variables so as to identify measures with similar rates of deterioration, which might suggest common pathways affected early in the disease process; 4) quantify the relationship of CAG repeat number with disease onset and progression. The results of these studies will improve the understanding of the presymptomatic and early symptomatic phase of HD allowing for earlier diagnosis and identify subclinical biomarkers that can be utilized in clinical trials to evaluate therapeutic agents designed to slow progression and delay the onset of clinical HD. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: MEMBRANE FUSION ATPASES AND THE GOLGI APPARATUS Principal Investigator & Institution: Warren, Graham B.; Professor; Cell Biology; Yale University 47 College Street, Suite 203 New Haven, Ct 065208047 Timing: Fiscal Year 2004; Project Start 01-MAR-2000; Project End 31-MAR-2008 Summary: (provided by applicant): Using a cell-free system than mimics the mitotic cycle of the Golgi apparatus, we have been able to identify many of the proteins involved in the fragmentation and reassembly of this organelle. The last granting period focused on the reassembly of Golgi cisternae that is catalyzed by two ATPases, NSF and p97. NSF was shown to have an activity additional to its well-characterized role in unraveling SNARE complexes. It was found to add the ubiquitin-like protein, GATE-16, to the v-SNARE, GOS-28, a process that prevented the formation of non-productive cis SNARE complexes, and primed the SNARE for its interaction with the cognate tSNARE, syntaxin-5. The p97 ATPase utilizes p47 as an adaptor molecule and this was shown to recognize mono-ubiquitinated proteins as part of the Golgi reassembly process. Other adaptor molecules were identified and characterized, notably the Ufd1p/Np14 complex, and this was shown to mediate p97 action in processes ranging from ER-associated degradation through to nuclear envelope reassembly. The present proposal continues the analysis of these two ATPase-driven pathways focusing on the

8

Huntington Disease

following aims: 1: Studying the p115 tethering protein to work out precisely how it choreographs the capture and docking of cis-directed COPI transport vesicles. 2: Characterizing a new tethering complex that likely mediates the capture and docking of other COPI vesicles to medial/trans cistemae. The composition and function of these vesicles will also be characterized as will others identified and isolated through capture by different tethers. 3: Determining the role played by ubiquitin in the p97 pathway of Golgi reassembly. Ubiquitinated targets will be identified and characterized. 4: Testing the idea that p97 unravels t-t SNARE complexes just as NSF unravels v-t SNARE complexes. The fusion of ER membranes in budding yeast will be used as the assay. Though the main thrust of this application is the study of fundamental membrane traffic processes, there are medical implications. The tethering proteins were first identified as auto-antigens in patients with Sjogren's syndrome, and in one case as a partner for OCRL1, a PIP2 phosphatase, implicated in oculocerebrorenal syndrome. Ufd1p is mutated in DiGeorge syndrome, a congenital developmental disorder, and the role played by p97 in unraveling protein aggregates has implicated this ATPase in neurodegenerative diseases ranging from Alzheimer's to Huntington disease. Insights into the molecular mechanism of Golgi reassembly may therefore provide insight into these medical conditions. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: NEURODEGENERATION WITH DROSOPHILA Principal Investigator & Institution: Botas, Juan; Assistant Professor; Molecular and Human Genetics; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030 Timing: Fiscal Year 2002; Project Start 01-JUL-2001; Project End 30-JUN-2006 Summary: (Adapted from applicant's abstract): The ultimate goal of this project is to gain insight into polyglutamine-induced neurodegeneration by identifying genes, pathways and molecular mechanisms involved in the pathogenesis of spinocerebellar ataxia type 1 (SCA1). A Drosophila model of SCA1 was created by generating flies that express either normal or expanded human SCA1 transgenes. This fly model recapitulates the cellular phenotypes observed in SCA1 patients including the formation of nuclear inclusions (NI) and progressive neuronal degeneration. Capitalizing on the power of Drosophila genetics, two large genetic screens were designed to identify genes that modify a SCA1 neurodegenerative phenotype in the eye. The first screen yielded modifiers of the SCA1 phenotype when gene activity was decreased; the second screen yielded SCA1 modifiers when gene activity was increased. Both suppressors and enhancers of the neurodegenerative phenotype were obtained from each screen. The first aim of the proposed work is to identify the genes that modify the SCA1 neurodegenerative phenotype. These modifiers will be further characterized in sensitive viability and locomoter assays that allow the quantification of their modifier effects. The most powerful suppressors will be selected for further studies. To investigate whether different polyglutamine disease share common mechanisms of pathogenesis, the SCA1 modifiers will be tested in fly models of Huntington disease and polyglutamine toxicity. Finally, because the normal function of the SCA1 gene may be relevant to pathogenesis, the function of the Drosophila SCA1 gene will be investigated by generating lack-of-function mutations and transgenes for its over expression. In future studies, the most promising SCA1 suppressors characterized in flies will be investigated in the SCA1 mouse model, and in mouse models of polyglutamine disease. These genes may also be relevant to research aimed at treating other neurodegenerative proteinopathies such as Alzheimer disease and Parkinson disease. They will provide

Studies

9

valuable targets for future pharmacological research aimed at developing drugs for therapy. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: NUCLEAR EFFECT OF HUNTINGTON DISEASE PROTEIN Principal Investigator & Institution: Li, Xiao-Jiang; Associate Professor; Genetics; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2002; Project Start 01-MAY-2001; Project End 30-APR-2005 Summary: Eight inherited neurological disorders have been found to associate with an expansion of a glutamine repeat in the protein products of the disease genes. Increasing evidence has shown that the expanded glutamine repeat causes the disease proteins to aggregate in the nucleus and to abnormally interact with other proteins, Studies of brains from patients with Huntington's disease (HD) and HD animal models have indicated that N- terminal fragments of huntingtin with expanded polyglutamine accumulate in the nucleus and are toxic to neurons. However, the mechanisms of these pathological events remain unknown. The aim of this proposal is to investigate the mechanisms of cellular pathology caused by intranuclear huntingtin with expanded polyglutamine. We will use cellular and animal models to address two important questions: (1) how N-terminal fragments of huntingtin with expanded polyglutamine are accumulated in the nucleus, and (2) how intranuclear mutant huntingtin induces cellular dysfunction. Accordingly, two specific aims will be pursued. Aim 1 is to study how N- terminal huntingtin with expanded polyglutamine is generated and accumulates in the neuronal nucleus and to identify proteins or cellular factors that keep mutant huntingtin in the nucleus. Aim 2 is to investigate how mutant huntingtin may interact with transcription factors and affects gene transcription. These studies will advance our knowledge about the pathogenesis of HD and provide vital information to help develop therapeutic strategies. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: PHASE III TRIAL OF MINOCYCLINE IN ALS:I-CLINICAL CENTER Principal Investigator & Institution: Gordon, Paul H.; Neurology; Columbia University Health Sciences New York, Ny 10032 Timing: Fiscal Year 2003; Project Start 25-AUG-2003; Project End 31-MAY-2007 Summary: (provided by the applicant): Amyotrophic lateral sclerosis is a progressive neurodegenerative disorder leading to death on average in 3 years (1). There is no cure or known treatment that significantly improves function. Loss of motor neurons in the brain and spinal cord of ALS patients causes the progressive symptoms. Motor nerve degeneration may result from a cascade of events including free radical toxicity, glutamate excitotoxicity and mitochondrial dysfunction (2-4), which lead to the activation of cell death pathways (5-9). Mitogen-Activated Protein (MAP) kinases, including p38, are up-regulated in response to cell stress, and promote pro-apoptotic and inflammatory mediators (10, 11). Caspase enzymes and inflammatory mediators regulate cell death pathways (12-14), and are activated in human and transgenic mousemodel ALS (15,16). Caspase enzyme inhibitors and anti-inflammatory agents have been shown to slow progression in the ALS model (6,7,17,18). Minocycline, FDA approved for treatment of infection, has high central nervous system penetration when taken orally, inhibits p38 MAP kinase, prevents activation of caspase-1, caspase-3 and inflammatory mediators (19,20), and delays disease progression in animal models of neurodegenerative disorders, including Huntington disease (19), Parkinson disease (21)

10

Huntington Disease

and ALS (22) (Serge Przedborski, personal communication). It is well-tolerated as an oral treatment for outpatients. The objective of this clinical trial is to determine whether Minocycline slows disease progression and helps maintain function in patients with ALS. The study design selects patients early in the course of ALS when a neuroprotective therapy may be most beneficial, measures functional improvement from the medication, which patients and physicians consider most important, and minimizes subject drop out. The proposed study will be an IRB-approved, investigatorinitiated, multi-center, randomized, double-blind, placebo-controlled study of Minocycline in 400 subjects with ALS treated for 9 months. The primary outcome measure is the change in slope of the revised ALS Functional Rating Scale (ALSFRS-R). Secondary outcome measures consist of changes in disease progression rate, as measured by Manual Muscle Testing (MMT), forced vital capacity (percent predicted) and survival. Should Minocycline prove effective in slowing the rate of functional decline, it would have an immediate impact both clinically and from the perspective of understanding the underlying pathophysiology of human ALS. This application is the clinical part of a combined proposal to carry out the clinical trial. A Data Center will be established at the California Pacific Medical Center in San Francisco to carry out data management and statistical analyses (see companion grant application Phase III Trial of Minocycline in ALS: II Data Center. P.I. Dr. Robert Miller). Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: EXPRESSION

POLYGLUTAMINE

EXPANSION

AND

ALTERED

GENE

Principal Investigator & Institution: Li, Shi-Hua; Human Genetics; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2004; Project Start 01-MAR-2004; Project End 29-FEB-2008 Summary: (provided by applicant): Nine inherited neurodegenerative disorders are caused by an expansion of a polyglutamine tract in the associated disease proteins. Increasing evidence indicates that huntingtin containing an expanded polyglutamine tract accumulates in the nucleus and affects gene expression in Huntington disease (HD). Transcriptional dysregulation may also be the major pathological cause in SCA17 in which polyglutamine expansion is present in the TATA binding protein (TBP). HD and SCA17 show similar neurological phenotypes and neuropathology characterized by neurodegeneration in the striatum and cortex, suggesting that both diseases may share a similar pathological mechanism. Although recent studies have shown that mutant huntingtin binds to the transcriptional factors Sp1 and TAF130, the mechanism by which mutant polyglutamine proteins affect gene expression remains to be investigated. Furthermore, it is unclear how the abnormal interactions between mutant polyglutamine proteins and transcription factors contribute to the disease process. We hypothesize that soluble polyglutamine proteins interfere with gene expression by altering the interactions between transcription factors and their DNA targets before the formation of large nuclear inclusions. To test this hypothesis, we will (1) study how mutant N-terminal huntingtin abnormally binds to Sp1 to affect gene expression, (2) investigate whether polyglutamine expansion causes TBP to abnormally bind to the TATA box and its associated factors, and (3) examine whether polyglutamine expansion causes TBP and huntingtin to abnormally bind to the transcriptional factor TAF130, leading to a common transcriptional defect that may contribute to the similar neuropathology in HD and SCA17. These studies aim to provide insights into the mechanism by which polyglutamine expansion affects gene expression. They will also help identify a therapeutic target for the treatment of polyglutamine diseases

Studies

11

Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: TRANSGLUTAMINASE POLYGLUTAMINE

AND

DISEASES

OF

EXPANDED

Principal Investigator & Institution: Green, Howard; Cell Biology; Harvard University (Medical School) Medical School Campus Boston, Ma 02115 Timing: Fiscal Year 2002; Project Start 25-SEP-2000; Project End 31-AUG-2004 Summary: (adapted from applicant's abstract): Huntington disease and eight other central nervous system diseases are each caused by a protein containing an expanded sequence of polyglutamine. Each protein normally contains a polyglutamine sequence of not exceeding 40 residues but mutational expansion of this sequence in any of the proteins produces neuronal damage and a corresponding disease. If the cause can be precisely stated, the pathogenesis cannot. It must be explained why all the diseases are virtually confined to the nervous system and why aggregates or inclusions form in neurons of the affected parts of the brain. While different explanations have been proposed, our previous work supports the following explanation: 1) any protein bearing an expanded sequence of polyglutamine is an exceptionally active substrate of transglutaminase. 2) neurons undergo transient elevation in Ca++ concentration as part of impulse conduction; such a rise would activate the neuronal transglutaminase. 3) the action of transglutaminase couples huntingtin containing expanded polyglutamine to other proteins and produces insoluble aggregates. The constant formation of covalently cross-linked aggregates is lethal to neurons. Further evidence will be sought to support all of these points by studies of 1 ) the purification of inclusion bodies containing expanded polyglutamine from other cellular components and their analysis for the presence of ( abouty-glutamyl) lysine cross-links, 2) the proteins cross-linked in affected brain. especially tubulin, 3) the presence of ( about-glutamyl) lysine in affected parts of the brain and spinal fluid of patients with Huntington Disease. If the role of transglutaminase can be proven conclusively, a prophylaxis and a therapy can be envisioned in the form of transglutaminase inhibitors. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: YEAST MODEL FOR TWO NEURODEGENERATION-LINKED PROTEINS Principal Investigator & Institution: Debburman, Shubhik Kumar.; Biology; Lake Forest College Lake Forest, Il 60045 Timing: Fiscal Year 2004; Project Start 01-MAY-2004; Project End 30-APR-2007 Summary: (provided by applicant): Budding Yeast (S. cerevisiae) has emerged as a powerful model system for understanding molecular aspects of many human diseases. Protein misfolding linked to certain neurodegenerative diseases (NDDs) like Huntington Disease, Lou Gehrig's disease, and prion diseases have been successfully recapitulated in S. cerevisiae and led to identification of therapeutically relevant regulators of misfolding. No S. cerevisiae models for Parkinson's Disease (PD) or dentatorubral pallidoluysian atrophy (DRPLA) have been reported. PD is one of the most common NDDs, while DRPLA is a rare inherited NDD of the triplet repeat disease family. In both diseases, misfolding of a specific protein (alpha-synuclein for PD and atrophin for DRPLA) is thought to cause selective neuronal death. Unlike the wellcharacterized huntingtin protein in Huntington Disease (which shares many similarities to DRPLA), less is known about the misfolding of mutant atrophin in DRPLA. A S. cerevisiae expression system for studying alpha-synuclein has recently

12

Huntington Disease

been developed in our lab. Preliminary evidence supports that both wildtype and disease-associated mutants are aggregating within yeast cells and upon purification. A similar effort to establish atrophin-1 expression in yeast is underway. To extend initial observations with alpha-synuclein in yeast and fully develop a yeast model for atrophin, three goals are proposed. 1) Misfolding properties between wildtype and mutant versions of both proteins will be investigated in vivo (immunofluorescence and GFPbased localization and assessment of protein half-life) and in vitro (by measuring protease sensitivity and differential solubility). 2) Influences of chaperones and ubiquitin-proteasomal pathway proteins on folding and degradation of these proteins will be assessed in strains compromised for chaperone/proteasomal function, or those that overexpress chaperones, and by co-immunoprecipitation assessment. 3) A fission yeast (S. pombe) expression model for alpha-synuclein and atrophin properties (as in Aim 1) will be developed and compared with the S. cerevisiae model; NDD models have not been reported in S. pombe. These studies may further clarify the molecular bases for misfolding and degradation of PD- and DRPLA-linked proteins and extend the usefulness of yeast models. Importantly, the scientific training of many undergraduates will be supported, strengthening their cell biology and molecular genetics skills and appreciation for model organisms. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “huntington disease” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for huntington disease in the PubMed Central database: •

3-Hydroxyanthranilate oxygenase activity is increased in the brains of Huntington disease victims. by Schwarcz R, Okuno E, White RJ, Bird ED, Whetsell WO Jr.; 1988 Jun; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=280365

•

A Cloned DNA Segment from the Telomeric Region of Human Chromosome 4p is Not Detectably Rearranged in Huntington Disease Patients. by Pritchard C, Casher D, Bull L, Cox DR, Myers RM.; 1990 Sep 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=54733

•

Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human Huntington disease gene. by Cha JH, Kosinski CM, Kerner JA, Alsdorf SA, Mangiarini L, Davies SW, Penney JB, Bates GP, Young AB.; 1998 May 26; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=27817

3 4

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print.

Studies

13

•

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. by Hutchinson GB, Andrew SE, McDonald H, Goldberg YP, Graham R, Rommens JM, Hayden MR.; 1993 Jul 25; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=331434

•

Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. by Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS.; 1988 Sep; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=281987

•

Ciliary Neurotrophic Factor Protects Striatal Output Neurons in an Animal Model of Huntington Disease. by Anderson KD, Panayotatos N, Corcoran TL, Lindsay RM, Wiegand SJ.; 1996 Jul 9; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=38987

•

Differential loss of striatal projection neurons in Huntington disease. by Reiner A, Albin RL, Anderson KD, D'Amato CJ, Penney JB, Young AB.; 1988 Aug; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=281835

•

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. by Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D.; 1997 Apr 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=20534

•

Huntington disease expansion mutations in humans can occur before meiosis is completed. by Yoon SR, Dubeau L, de Young M, Wexler NS, Arnheim N.; 2003 Jul 22; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=166399

•

Interaction of Huntington Disease Protein with Transcriptional Activator Sp1. by Li SH, Cheng AL, Zhou H, Lam S, Rao M, Li H, Li XJ.; 2002 Mar; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=134707

•

Intrastriatal Transplantation of Cross-Species Fetal Striatal Cells Reduces Abnormal Movements in a Primate Model of Huntington Disease. by Hantraye P, Riche D, Maziere M, Isacson O.; 1992 May 1; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=49039

•

Intravenous Administration of a Transferrin Receptor Antibody-Nerve Growth Factor Conjugate Prevents the Degeneration of Cholinergic Striatal Neurons in a Model of Huntington Disease. by Kordower JH, Charles V, Bayer R, Bartus RT, Putney S, Walus LR, Friden PM.; 1994 Sep 13; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=44750

•

Link between D1 and D2 dopamine receptors is reduced in schizophrenia and Huntington diseased brain. by Seeman P, Niznik HB, Guan HC, Booth G, Ulpian C.; 1989 Dec; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=298666

14

Huntington Disease

•

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease. by Scott HS, Nelson PV, Hopwood JJ, Morris CP.; 1991 Nov 25; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=329172

•

The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere. by Doggett NA, Cheng JF, Smith CL, Cantor CR.; 1989 Dec; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=298632

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with huntington disease, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “huntington disease” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for huntington disease (hyperlinks lead to article summaries): •

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Author(s): Thompson LM, Plummer S, Schalling M, Altherr MR, Gusella JF, Housman DE, Wasmuth JJ. Source: Genomics. 1991 December; 11(4): 1133-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1664411

•

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Author(s): Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dode C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gomez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djousse L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha JH, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH. Source: American Journal of Human Genetics. 2003 September; 73(3): 682-7. Epub 2003 August 01. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12900792

6 PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

Studies

15

•

A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm. Author(s): Brouwer-Dudokdewit AC, Savenije A, Zoeteweij MW, Maat-Kievit A, Tibben A. Source: Family Process. 2002 Winter; 41(4): 677-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12613124

•

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Author(s): Xiang F, Almqvist EW, Huq M, Lundin A, Hayden MR, Edstrom L, Anvret M, Zhang Z. Source: American Journal of Human Genetics. 1998 November; 63(5): 1431-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9792871

•

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families. Author(s): Watanabe M, Kondo I, Nissato S, Wakisaka A, Toda T, Ikeda J, Wasmuth JJ, Gusella JF, Kanazawa I. Source: Jpn J Hum Genet. 1993 June; 38(2): 193-201. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8102909

•

A long term (ca 5 years) prospective assessment of psychological consequences of predictive testing for Huntington disease (HD) Author(s): Wiggins S, Green T, Adam S, Hayden MR. Source: American Journal of Human Genetics. 1996 October; 59(4): A7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11644838

•

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion. Author(s): Panagopoulos I, Lassen C, Kristoffersson U, Aman P. Source: Human Mutation. 1999; 13(3): 232-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10090478

•

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Author(s): Goldberg YP, Andrew SE, Clarke LA, Hayden MR. Source: Human Molecular Genetics. 1993 June; 2(6): 635-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8353482

•

A randomized trial of amantadine in Huntington disease. Author(s): O'Suilleabhain P, Dewey RB Jr. Source: Archives of Neurology. 2003 July; 60(7): 996-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12873857

16

Huntington Disease

•

A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Author(s): Laccone F, Christian W. Source: American Journal of Human Genetics. 2000 March; 66(3): 1145-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10712225

•

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Author(s): Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, IngersollAshworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. Source: Nature Genetics. 2001 December; 29(4): 377-8. Erratum In: Nat Genet 2002 January; 30(1): 123. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11694876

•

A transcription map of the region containing the Huntington disease gene. Author(s): Rommens JM, Lin B, Hutchinson GB, Andrew SE, Goldberg YP, Glaves ML, Graham R, Lai V, McArthur J, Nasir J, et al. Source: Human Molecular Genetics. 1993 July; 2(7): 901-7. Erratum In: Hum Mol Genet 1993 September; 2(9): 1524. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7689900

•

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Author(s): Almqvist EW, Bloch M, Brinkman R, Craufurd D, Hayden MR. Source: American Journal of Human Genetics. 1999 May; 64(5): 1293-304. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10205260

•

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Author(s): Goldberg YP, Kalchman MA, Metzler M, Nasir J, Zeisler J, Graham R, Koide HB, O'Kusky J, Sharp AH, Ross CA, Jirik F, Hayden MR. Source: Human Molecular Genetics. 1996 February; 5(2): 177-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8824873

•

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard. Author(s): Bruland O, Almqvist EW, Goldberg YP, Boman H, Hayden MR, Knappskog PM. Source: Clinical Genetics. 1999 March; 55(3): 198-202. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10334474

Studies

17

•

Accurate sizing of (CAG)n repeats causing Huntington disease by fluorescent PCR. Author(s): Toth T, Findlay I, Nagy B, Papp Z. Source: Clinical Chemistry. 1997 December; 43(12): 2422-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9439466

•

Adults seeking presymptomatic gene testing for Huntington disease. Author(s): Williams JK, Schutte DL, Evers CA, Forcucci C. Source: Image--The Journal of Nursing Scholarship. 1999; 31(2): 109-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10380384

•

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. Author(s): Kehoe P, Krawczak M, Harper PS, Owen MJ, Jones AL. Source: Journal of Medical Genetics. 1999 February; 36(2): 108-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10051007

•

Allele frequencies and linkage disequilibrium of polymorphic DNA markers of the Huntington disease region in the German population. Author(s): Thies U, Bockel B, Gerdes B, Schroder K. Source: Human Genetics. 1993 December; 92(6): 593-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7903271

•

Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene. Author(s): Cha JH, Kosinski CM, Kerner JA, Alsdorf SA, Mangiarini L, Davies SW, Penney JB, Bates GP, Young AB. Source: Proceedings of the National Academy of Sciences of the United States of America. 1998 May 26; 95(11): 6480-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9600992

•

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. Author(s): Hutchinson GB, Andrew SE, McDonald H, Goldberg YP, Graham R, Rommens JM, Hayden MR. Source: Nucleic Acids Research. 1993 July 25; 21(15): 3379-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8393987

•

An electrophysiological analysis of altered cognitive functions in Huntington disease. Author(s): Munte TF, Ridao-Alonso ME, Preinfalk J, Jung A, Wieringa BM, Matzke M, Dengler R, Johannes S. Source: Archives of Neurology. 1997 September; 54(9): 1089-98. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9311352

18

Huntington Disease

•

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers. Author(s): Giovannone B, Sabbadini G, Di Maio L, Calabrese O, Castaldo I, Frontali M, Novelleto A, Squitieri F. Source: Human Mutation. 1997; 10(6): 458-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9401009

•

Analysis of gait abnormalities in Huntington disease. Author(s): Reynolds NC Jr, Myklebust JB, Prieto TE, Myklebust BM. Source: Archives of Physical Medicine and Rehabilitation. 1999 January; 80(1): 59-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9915373

•

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Author(s): Almqvist E, Spence N, Nichol K, Andrew SE, Vesa J, Peltonen L, Anvret M, Goto J, Kanazawa I, Goldberg YP, et al. Source: Human Molecular Genetics. 1995 February; 4(2): 207-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7757069

•

Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Author(s): Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI, Chung AS, Pleasant N, Callahan C, et al. Source: American Journal of Human Genetics. 1995 September; 57(3): 593-602. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7668287

•

Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease. Canadian Collaborative Study for Predictive Testing for Huntington Disease. Author(s): Copley TT, Wiggins S, Dufrasne S, Bloch M, Adam S, McKellin W, Hayden MR. Source: American Journal of Medical Genetics. 1995 July 31; 58(1): 59-69. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7573158

•

Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease. Author(s): Babul R, Adam S, Kremer B, Dufrasne S, Wiggins S, Huggins M, Theilmann J, Bloch M, Hayden MR. Source: Jama : the Journal of the American Medical Association. 1993 November 17; 270(19): 2321-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8230594

Studies

19

•

Awareness of involuntary movements in Huntington disease. Author(s): Snowden JS, Craufurd D, Griffiths HL, Neary D. Source: Archives of Neurology. 1998 June; 55(6): 801-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9626771

•

Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease. Author(s): Sapp E, Penney J, Young A, Aronin N, Vonsattel JP, DiFiglia M. Source: Journal of Neuropathology and Experimental Neurology. 1999 February; 58(2): 165-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10029099

•

Basal ganglia volume and proximity to onset in presymptomatic Huntington disease. Author(s): Aylward EH, Codori AM, Barta PE, Pearlson GD, Harris GJ, Brandt J. Source: Archives of Neurology. 1996 December; 53(12): 1293-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8970459

•

Behavioral changes in Huntington Disease. Author(s): Craufurd D, Thompson JC, Snowden JS. Source: Neuropsychiatry, Neuropsychology, and Behavioral Neurology. 2001 OctoberDecember; 14(4): 219-26. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11725215

•

Bicaudate index in computerized tomography of Huntington disease and cerebral atrophy. Author(s): Barr AN, Heinze WJ, Dobben GD, Valvassori GE, Sugar O. Source: Neurology. 1978 November; 28(11): 1196-1200. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=152416

•

Brain-derived neurotrophic factor in Huntington disease. Author(s): Ferrer I, Goutan E, Marin C, Rey MJ, Ribalta T. Source: Brain Research. 2000 June 2; 866(1-2): 257-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10825501

•

Bromocriptine and dopaminergic function in Huntington disease. Author(s): Loeb C, Roccatagliata G, Albano C, Besio G. Source: Neurology. 1979 May; 29(5): 730-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=155784

20

Huntington Disease

•

Canadian experience with predictive testing for Huntington disease: lessons for genetic testing centers and policy makers. Author(s): Chapman MA. Source: American Journal of Medical Genetics. 1992 February 15; 42(4): 491-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1535176

•

Cation shifts and excitotoxins in Alzheimer and Huntington disease and experimental brain damage. Author(s): Korf J, Gramsbergen JB, Prenen GH, Go KG. Source: Prog Brain Res. 1986; 70: 213-26. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2953041

•

Causes of death in Huntington disease as reported on death certificates. Author(s): Haines JL, Conneally PM. Source: Genetic Epidemiology. 1986; 3(6): 417-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2948872

•

Cellular immune responses in Huntington disease. Specificity of brain antigenicity detected with Huntington disease lymphocytes. Author(s): Barkley DS, Hardiwidjaja SI, Tourtellotte WW, Menkes JH. Source: Neurology. 1978 January; 28(1): 32-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=74049

•

Change in attitudes toward presymptomatic testing in Huntington disease. Author(s): Mastromauro C, Myers RH, Berkman B. Source: American Journal of Medical Genetics. 1986 June; 24(2): 369-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3013007

•

Characteristics of individuals with Huntington disease in long-term care. Author(s): Nance MA, Sanders G. Source: Movement Disorders : Official Journal of the Movement Disorder Society. 1996 September; 11(5): 542-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8866495

•

Characterization and localization of the Huntington disease gene product. Author(s): Hoogeveen AT, Willemsen R, Meyer N, de Rooij KE, Roos RA, van Ommen GJ, Galjaard H. Source: Human Molecular Genetics. 1993 December; 2(12): 2069-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8111375

Studies

21

•

Characterization and rapid analysis of the highly polymorphic VNTR locus D4S125 (YNZ32), closely linked to the Huntington disease gene. Author(s): Richards B, Horn GT, Merrill JJ, Klinger KW. Source: Genomics. 1991 February; 9(2): 235-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1672295

•

Chromosomal imprinting and the parent transmission specific variation in expressivity of Huntington disease. Author(s): Erickson RP. Source: American Journal of Human Genetics. 1985 July; 37(4): 827-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9556671

•

Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Author(s): Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS. Source: Proceedings of the National Academy of Sciences of the United States of America. 1988 September; 85(17): 6437-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2901098

•

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase betasubunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3). Author(s): Altherr MR, Wasmuth JJ, Seldin MF, Nadeau JH, Baehr W, Pittler SJ. Source: Genomics. 1992 April; 12(4): 750-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1315306

•

Ciliary neurotrophic factor protects striatal output neurons in an animal model of Huntington disease. Author(s): Anderson KD, Panayotatos N, Corcoran TL, Lindsay RM, Wiegand SJ. Source: Proceedings of the National Academy of Sciences of the United States of America. 1996 July 9; 93(14): 7346-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8692996

•

Clarification of Huntington disease in Georgia: age at onset. Author(s): Adams P. Source: American Journal of Human Genetics. 1989 June; 44(6): 905. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2524967

•

Clinical deficits in Huntington disease correlate with reduced striatal uptake on iodine-123 epidepride single-photon emission tomography. Author(s): Leslie WD, Greenberg CR, Abrams DN, Hobson D. Source: European Journal of Nuclear Medicine. 1999 November; 26(11): 1458-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10552088

22

Huntington Disease

•

Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease. Author(s): Goldberg YP, Lin BY, Andrew SE, Nasir J, Graham R, Glaves ML, Hutchinson G, Theilmann J, Ginzinger DG, Schappert K, et al. Source: Human Molecular Genetics. 1992 December; 1(9): 669-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1284592

•

Cloning of the Huntington disease region in yeast artificial chromosomes. Author(s): Zuo J, Robbins C, Taillon-Miller P, Cox DR, Myers RM. Source: Human Molecular Genetics. 1992 June; 1(3): 149-59. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1303170

•

Cognitive and psychiatric aspects of Huntington disease contribute to functional capacity. Author(s): Nehl C, Paulsen JS; Huntington Study Group. Source: The Journal of Nervous and Mental Disease. 2004 January; 192(1): 72-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14718780

•

Cognitive manifestations of Huntington disease in relation to genetic structure and clinical onset. Author(s): Jason GW, Suchowersky O, Pajurkova EM, Graham L, Klimek ML, Garber AT, Poirier-Heine D. Source: Archives of Neurology. 1997 September; 54(9): 1081-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9311351

•

Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards. Author(s): Williams LC, Hegde MR, Herrera G, Stapleton PM, Love DR. Source: Molecular and Cellular Probes. 1999 August; 13(4): 283-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10441201

•

Complex patterns of linkage disequilibrium in the Huntington disease region. Author(s): MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF. Source: American Journal of Human Genetics. 1991 October; 49(4): 723-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1680285

•

Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene. Author(s): Kirkwood SC, Siemers E, Bond C, Conneally PM, Christian JC, Foroud T. Source: Archives of Neurology. 2000 July; 57(7): 1040-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10891987

Studies

23

•

Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4. Author(s): Zuo J, Robbins C, Baharloo S, Cox DR, Myers RM. Source: Human Molecular Genetics. 1993 July; 2(7): 889-99. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8364572

•

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Author(s): Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR. Source: Human Molecular Genetics. 1997 February; 6(2): 301-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9063751

•

Covariate-dependent age-at-onset distributions for Huntington disease. Author(s): Krawczak M, Bockel B, Sandkuijl L, Thies U, Fenton I, Harper PS. Source: American Journal of Human Genetics. 1991 October; 49(4): 735-45. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1832816

•

Decreased striatal monoaminergic terminals in Huntington disease. Author(s): Bohnen NI, Koeppe RA, Meyer P, Ficaro E, Wernette K, Kilbourn MR, Kuhl DE, Frey KA, Albin RL. Source: Neurology. 2000 May 9; 54(9): 1753-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10802780

•

Defined physical limits of the Huntington disease gene candidate region. Author(s): Bates GP, MacDonald ME, Baxendale S, Youngman S, Lin C, Whaley WL, Wasmuth JJ, Gusella JF, Lehrach H. Source: American Journal of Human Genetics. 1991 July; 49(1): 7-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1829581

•

Defining the location of the Huntington disease gene. Author(s): Danks DM. Source: American Journal of Human Genetics. 1993 January; 52(1): 214. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8434592

•

Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses. Author(s): Skraastad MI, de Rooij KE, de Koning Gans PA, Verwest A, Vegter-van der Vlis M, Bakker E, den Dunnen JT, van Ommen GB. Source: Genomics. 1993 June; 16(3): 599-604. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8325632

24

Huntington Disease

•

Dementia in Huntington disease: a cross-sectional analysis of intellectual decline. Author(s): Fisher JM, Kennedy JL, Caine ED, Shoulson I. Source: Adv Neurol. 1983; 38: 229-38. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6225315

•

Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Author(s): Chua CC, Geiman DE, Ladda RL. Source: Biochemical and Biophysical Research Communications. 1983 March 16; 111(2): 690-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6220707

•

Detection of CAG repeats using silver staining in patients with Huntington disease in Hungary. Author(s): Toth T, Nemeti M, Papp Z. Source: American Journal of Medical Genetics. 1997 June 27; 70(4): 448-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9182790

•

Diabetes mellitus in Huntington disease. Author(s): Farrer LA. Source: Clinical Genetics. 1985 January; 27(1): 62-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3156696

•

Diagnosis in Huntington disease. Author(s): Gruenthal M, Olson WL. Source: J Ky Med Assoc. 1994 July; 92(7): 263-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8064201

•

Diagnosis of Huntington disease. Author(s): Margolis RL, Ross CA. Source: Clinical Chemistry. 2003 October; 49(10): 1726-32. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14500613

•

Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program. Author(s): Bloch M, Adam S, Fuller A, Kremer B, Welch JP, Wiggins S, Whyte P, Huggins M, Theilmann J, Hayden MR. Source: American Journal of Medical Genetics. 1993 September 1; 47(3): 368-74. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8135283

Studies

25

•

Diagnosis of Huntington disease: model for a predictive testing program based on understanding the stages of psychological response. Author(s): Nance MA, Ludowese CJ. Source: American Journal of Medical Genetics. 1994 August 1; 52(1): 118-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7977455

•

Diagnosis of patients presenting to a Huntington disease (HD) clinic without a family history of HD. Author(s): Nance MA, Westphal B, Nugent S. Source: Neurology. 1996 December; 47(6): 1578-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8960750

•

Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer. Author(s): Goellner GM, Tester D, Thibodeau S, Almqvist E, Goldberg YP, Hayden MR, McMurray CT. Source: American Journal of Human Genetics. 1997 April; 60(4): 879-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9106534

•

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. Author(s): Lin B, Rommens JM, Graham RK, Kalchman M, MacDonald H, Nasir J, Delaney A, Goldberg YP, Hayden MR. Source: Human Molecular Genetics. 1993 October; 2(10): 1541-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7903579

•

Differential loss of striatal projection neurons in Huntington disease. Author(s): Reiner A, Albin RL, Anderson KD, D'Amato CJ, Penney JB, Young AB. Source: Proceedings of the National Academy of Sciences of the United States of America. 1988 August; 85(15): 5733-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2456581

•

Dilemmas of anonymous predictive testing for Huntington disease: privacy vs. optimal care. Author(s): Burgess MM, Adam S, Bloch M, Hayden MR. Source: American Journal of Medical Genetics. 1997 August 8; 71(2): 197-201. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9217222

26

Huntington Disease

•

Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain. Author(s): Maat-Schieman ML, Dorsman JC, Smoor MA, Siesling S, Van Duinen SG, Verschuuren JJ, den Dunnen JT, Van Ommen GJ, Roos RA. Source: Journal of Neuropathology and Experimental Neurology. 1999 February; 58(2): 129-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10029096

•

DNA analysis in juvenile Huntington disease. Author(s): Schomig-Spingler M, Hammer J, Kruse K. Source: European Journal of Pediatrics. 1989 February; 148(5): 447-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2522044

•

DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease. Author(s): Andrew S, Theilmann J, Almqvist E, Norremolle A, Lucotte G, Anvret M, Sorensen SA, Turpin JC, Hayden MR. Source: Clinical Genetics. 1993 June; 43(6): 286-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8370147

•

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Author(s): Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greenberg J, Goto J, et al. Source: Human Molecular Genetics. 1994 December; 3(12): 2103-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7881406

•

DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. Author(s): Forse RA, MacLeod P, Holden JJ, White BN. Source: Journal of Neurogenetics. 1989 May; 5(2): 155-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2525613

•

DNA testing for Huntington disease in the Turkish population. Author(s): Akbas F, Erginel-Unaltuna N. Source: European Neurology. 2003; 50(1): 20-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12824708

•

DNA testing for Huntington disease results in a modification of risk and not diagnosis of disease. Author(s): Bloch M, Hayden MR. Source: European Journal of Pediatrics. 1990 April; 149(7): 513. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2140774

Studies

27

•

Dysfunction of wild-type huntingtin in Huntington disease. Author(s): Cattaneo E. Source: News in Physiological Sciences : an International Journal of Physiology Produced Jointly by the International Union of Physiological Sciences and the American Physiological Society. 2003 February; 18: 34-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12531930

•

Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults. Author(s): Louis ED, Anderson KE, Moskowitz C, Thorne DZ, Marder K. Source: Archives of Neurology. 2000 September; 57(9): 1326-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10987900

•

Early and progressive accumulation of reactive microglia in the Huntington disease brain. Author(s): Sapp E, Kegel KB, Aronin N, Hashikawa T, Uchiyama Y, Tohyama K, Bhide PG, Vonsattel JP, DiFiglia M. Source: Journal of Neuropathology and Experimental Neurology. 2001 February; 60(2): 161-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11273004

•

Early cognitive and motor symptoms in identified carriers of the gene for Huntington disease. Author(s): de Boo GM, Tibben A, Lanser JB, Jennekens-Schinkel A, Hermans J, MaatKievit A, Roos RA. Source: Archives of Neurology. 1997 November; 54(11): 1353-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9362982

•

Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. Author(s): Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, Ramos C. Source: Neurology. 2003 April 8; 60(7): 1214-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12682342

•

Effect of age-at-onset specifications on Huntington disease--G8 linkage analysis. Author(s): Harris EL, Bale SJ. Source: Genet Epidemiol Suppl. 1986; 1: 229-33. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2883080

28

Huntington Disease

•

Effect of laboratory or clerical error on presymptomatic risk calculations for Huntington disease: a simulation study. Author(s): King TM, Brandt J, Meyers DA. Source: American Journal of Medical Genetics. 1993 April 15; 46(2): 154-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8484402

•

Effects of DA agonist in Huntington disease hyperkinesia. Author(s): Caraceni TA, Girotti F, Giovannini P, Pederzoli M, Parati EA. Source: Italian Journal of Neurological Sciences. 1980 June; 1(3): 155-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6210644

•

Efficiency of carbamazepine in the treatment of micturitional disturbances in Huntington disease. Author(s): Cochen V, Degos JD, Bachoud-Levi AC. Source: Neurology. 2000 December 26; 55(12): 1934. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11134405

•

Ensuring consumer safety. Predictive testing for Huntington disease: response to Dr. Seymour Kessler, “Reinventing the wheel”. Author(s): Chapman MA. Source: American Journal of Medical Genetics. 1993 March 15; 45(6): 698-710. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8456848

•

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. Author(s): Gellera C, Meoni C, Castellotti B, Zappacosta B, Girotti F, Taroni F, DiDonato S. Source: American Journal of Human Genetics. 1996 August; 59(2): 475-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8755937

•

Erythrocyte membrane alterations in Huntington disease: effects of gammaaminobutyric acid. Author(s): Butterfield DA, Braden ML, Markesbery WR. Source: J Supramol Struct. 1978; 9(1): 125-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=215837

•

Estimation of fertility and fitness in Huntington disease in New England. Author(s): Mastromauro CA, Meissen GJ, Cupples LA, Kiely DK, Berkman B, Myers RH. Source: American Journal of Medical Genetics. 1989 June; 33(2): 248-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2527461

Studies

29

•

Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease. Author(s): Huggins M, Bloch M, Kanani S, Quarrell OW, Theilman J, Hedrick A, Dickens B, Lynch A, Hayden M. Source: American Journal of Human Genetics. 1990 July; 47(1): 4-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1971997

•

Ethical considerations in the social context of Huntington disease. Author(s): Turner D. Source: Disease Markers. 1992 July-August; 10(4): 171-83; Discussion 211-28. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1304435

•

Ethical issues in Huntington disease presymptomatic testing. Author(s): Turner DR, Willoughby JO. Source: Aust N Z J Med. 1990 August; 20(4): 545-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2145829

•

Ethical issues in preclinical testing in Huntington disease: response to Margery Shaw's invited editorial comment. Author(s): Hayden MR, Bloch M, Fox S, Crauford D. Source: American Journal of Medical Genetics. 1987 November; 28(3): 761-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2962495

•

Ethical, social and legal issues in Huntington disease: the nurse's role. Author(s): Rohs G, Klimek ML. Source: Axone. 1996 March; 17(3): 55-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8715551

•

Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models. Author(s): Portera-Cailliau C, Hedreen JC, Price DL, Koliatsos VE. Source: The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. 1995 May; 15(5 Pt 2): 3775-87. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7751945

•

Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein. Author(s): Jou YS, Myers RM. Source: Human Molecular Genetics. 1995 March; 4(3): 465-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7795604

30

Huntington Disease

•

Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Author(s): Robbins C, Theilmann J, Youngman S, Haines J, Altherr MJ, Harper PS, Payne C, Junker A, Wasmuth J, Hayden MR. Source: American Journal of Human Genetics. 1989 March; 44(3): 422-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2521771

•

Expansion of a 27 CAG repeat allele into a symptomatic huntington diseaseproducing allele. Author(s): Kelly TE, Allinson P, McGlennen RC, Baker J, Bao Y. Source: American Journal of Medical Genetics. 1999 November 5; 87(1): 91-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10528258

•

Exploration of the effects of predictive testing for Huntington disease on intimate relationships. Author(s): Quaid KA, Wesson MK. Source: American Journal of Medical Genetics. 1995 May 22; 57(1): 46-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7645597

•

Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development. Author(s): Schmitt I, Bachner D, Megow D, Henklein P, Hameister H, Epplen JT, Riess O. Source: Human Molecular Genetics. 1995 July; 4(7): 1173-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8528205

•

Factors related to onset age of Huntington disease. Author(s): Myers RH, Madden JJ, Teague JL, Falek A. Source: American Journal of Human Genetics. 1982 May; 34(3): 481-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6211092

•

Failure of aminooxyacetic acid therapy in Huntington disease. Author(s): Perry TL, Wright JM, Hansen S, Allan BM, Baird PA, MacLeod PM. Source: Neurology. 1980 July; 30(7 Pt 1): 772-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6446691

•

Failure of isoniazid therapy in Huntington disease. Author(s): McLean DR. Source: Neurology. 1982 October; 32(10): 1189-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6214730

Studies

31

•

Familial influence on age of onset among siblings with Huntington disease. Author(s): Rosenblatt A, Brinkman RR, Liang KY, Almqvist EW, Margolis RL, Huang CY, Sherr M, Franz ML, Abbott MH, Hayden MR, Ross CA. Source: American Journal of Medical Genetics. 2001 July 8; 105(5): 399-403. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11449389

•

Family and molecular data for a fine analysis of age at onset in Huntington disease. Author(s): Squitieri F, Sabbadini G, Mandich P, Gellera C, Di Maria E, Bellone E, Castellotti B, Nargi E, de Grazia U, Frontali M, Novelletto A. Source: American Journal of Medical Genetics. 2000 December 11; 95(4): 366-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11186892

•

Family intervention in rehabilitation of patient with Huntington disease. Author(s): Power PW. Source: Archives of Physical Medicine and Rehabilitation. 1982 September; 63(9): 441-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6214236

•

Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives. Author(s): Bonke B, Tibben A, Lindhout D, Stijnen T. Source: Human Genetics. 2002 September; 111(3): 297-8. Epub 2002 July 23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12215844

•

Few psychological consequences of presymptomatic testing for Huntington disease. Author(s): Bundey S. Source: Lancet. 1997 January 4; 349(9044): 4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8988110

•

Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization. Author(s): Landegent JE, Jansen in de Wal N, Fisser-Groen YM, Bakker E, van der Ploeg M, Pearson PL. Source: Human Genetics. 1986 August; 73(4): 354-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2943662

•

Forgotten person in the Huntington disease family. Author(s): Kessler S. Source: American Journal of Medical Genetics. 1993 October 15; 48(3): 145-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8291568

32

Huntington Disease

•

gamma-Aminobutyric acid receptors in normal human brain and Huntington disease. Author(s): Van Ness PC, Watkins AE, Bergman MO, Tourtellotte WW, Olsen RW. Source: Neurology. 1982 January; 32(1): 63-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6275305

•

Genetic analysis of Huntington disease in Italy. Author(s): Ajmar F, Mandich P, Bellone E, Abbruzzese G. Source: American Journal of Medical Genetics. 1991 May 1; 39(2): 211-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1829583

•

Genetic analysis workshop IV: Huntington disease linkage analysis summary. Author(s): Pericak-Vance MA, Meyers DA. Source: Genet Epidemiol Suppl. 1986; 1: 197-209. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2952549

•

Genetic analysis workshop IV: Huntington disease linkage analysis, data description. Author(s): Pericak-Vance MA, Meyers DA, Gusella JF, Folstein SE, Conneally PM. Source: Genet Epidemiol Suppl. 1986; 1: 193-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2952548

•

Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms. Author(s): Hecimovic S, Klepac N, Vlasic J, Vojta A, Janko D, Skarpa-Prpic I, CankiKlain N, Markovic D, Bozikov J, Relja M, Pavelic K. Source: Human Mutation. 2002 September; 20(3): 233. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12204002

•

Genetic landmarks through philately: Woodrow Wilson 'Woody' Guthrie and Huntington disease. Author(s): Innes AM, Chudley AE. Source: Clinical Genetics. 2002 April; 61(4): 263-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12030890

•

Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Author(s): Greenberg LJ, Martell RW, Theilman J, Hayden MR, Joubert J. Source: Human Genetics. 1991 October; 87(6): 701-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1834541

Studies

33

•

Genetic linkage studies in Huntington disease. Author(s): Pericak-Vance MA, Conneally PM, Merritt AD, Roos R, Norton JA Jr, Vance JM. Source: Cytogenetics and Cell Genetics. 1978; 22(1-6): 640-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=156628

•

Genetic testing and mental health: the model of Huntington disease. Author(s): Williams JK, Schutte DL. Source: Online Journal of Issues in Nursing [electronic Resource]. 2000; 5(3): 3. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11380269

•

Genetic testing of children at risk for Huntington's disease. US Huntington Disease Genetic Testing Group. Author(s): Nance MA. Source: Neurology. 1997 October; 49(4): 1048-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9339688

•

Genetics of childhood disorders: X. Huntington disease. Author(s): DiFiglia M. Source: Journal of the American Academy of Child and Adolescent Psychiatry. 2000 January; 39(1): 120-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10638076

•

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Author(s): Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D. Source: Proceedings of the National Academy of Sciences of the United States of America. 1997 April 15; 94(8): 3872-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9108071

•

Glyceraldehyde 3-phosphate dehydrogenase abnormality in metabolically stressed Huntington disease fibroblasts. Author(s): Cooper AJ, Sheu KF, Burke JR, Strittmatter WJ, Blass JP. Source: Developmental Neuroscience. 1998; 20(4-5): 462-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9778585

•

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Author(s): Almqvist EW, Elterman DS, MacLeod PM, Hayden MR. Source: Clinical Genetics. 2001 September; 60(3): 198-205. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11595021

34

Huntington Disease

•

Highly disabling cerebellar presentation in Huntington disease. Author(s): Squitieri F, Pustorino G, Cannella M, Toscano A, Maglione V, Morgante L, Tortorella G. Source: European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 2003 July; 10(4): 443-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12823498

•

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Author(s): Squitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, Almqvist EW, Turner D, Bachoud-Levi AC, Simpson SA, Delatycki M, Maglione V, Hayden MR, Donato SD. Source: Brain; a Journal of Neurology. 2003 April; 126(Pt 4): 946-55. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12615650

•

Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). Author(s): Ross CA, Margolis RL, Rosenblatt A, Ranen NG, Becher MW, Aylward E. Source: Medicine; Analytical Reviews of General Medicine, Neurology, Psychiatry, Dermatology, and Pediatrics. 1997 September; 76(5): 305-38. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9352736

•

Huntington disease expansion mutations in humans can occur before meiosis is completed. Author(s): Yoon SR, Dubeau L, de Young M, Wexler NS, Arnheim N. Source: Proceedings of the National Academy of Sciences of the United States of America. 2003 July 22; 100(15): 8834-8. Epub 2003 Jul 11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12857955

•

Huntington disease in children: genotype-phenotype correlation. Author(s): Rasmussen A, Macias R, Yescas P, Ochoa A, Davila G, Alonso E. Source: Neuropediatrics. 2000 August; 31(4): 190-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11071143

•

Huntington disease in County Donegal: epidemiological trends over four decades. Author(s): Morrison PJ, Nevin NC. Source: Ulster Med J. 1993 October; 62(2): 141-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8303797

Studies

35

•

Huntington disease phenocopy is a familial prion disease. Author(s): Moore RC, Xiang F, Monaghan J, Han D, Zhang Z, Edstrom L, Anvret M, Prusiner SB. Source: American Journal of Human Genetics. 2001 December; 69(6): 1385-8. Epub 2001 October 09. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11593450

•

Huntington disease. Author(s): Siemers E. Source: Archives of Neurology. 2001 February; 58(2): 308-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11176971

•

Huntington disease. Author(s): Vonsattel JP, DiFiglia M. Source: Journal of Neuropathology and Experimental Neurology. 1998 May; 57(5): 36984. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9596408

•

Huntington disease: a case study describing the complexities and nuances of predictive testing of monozygotic twins. Author(s): Heimler A, Zanko A. Source: Journal of Genetic Counseling. 1995 June; 4(2): 125-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11660384

•

Huntington disease: advances in molecular and cell biology. Author(s): Jones AL, Wood JD, Harper PS. Source: Journal of Inherited Metabolic Disease. 1997 June; 20(2): 125-38. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9211185

•

Huntington disease: clinical, genetic, and social aspects. Author(s): Nance MA. Source: Journal of Geriatric Psychiatry and Neurology. 1998 Summer; 11(2): 61-70. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9877527

•

Huntington disease: DNA analysis in Brazilian population. Author(s): Raskin S, Allan N, Teive HA, Cardoso F, Haddad MS, Levi G, Boy R, Lerena Junior J, Sotomaior VS, Janzen-Duck M, Jardim LB, Fellander FR, Andrade LA. Source: Arquivos De Neuro-Psiquiatria. 2000 December; 58(4): 977-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11105061

36

Huntington Disease

•

Huntington disease: new insights into the relationship between CAG expansion and disease. Author(s): Nasir J, Goldberg YP, Hayden MR. Source: Human Molecular Genetics. 1996; 5 Spec No: 1431-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8875248

•

Huntington disease: new insights on the role of huntingtin cleavage. Author(s): Wellington CL, Leavitt BR, Hayden MR. Source: Journal of Neural Transmission. Supplementum. 2000; (58): 1-17. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11128600

•

Huntington disease: prenatal screening for late onset disease. Author(s): Greenberg J. Source: Journal of Medical Ethics. 1993 June; 19(2): 121. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8331637

•

Huntington disease--another chapter rewritten. Author(s): Nance MA. Source: American Journal of Human Genetics. 1996 July; 59(1): 1-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8659511

•

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Author(s): MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. Source: Somatic Cell and Molecular Genetics. 1991 July; 17(4): 421-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1832239

•

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Author(s): Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, Garcia-Hoyos M, Lorda-Sanchez I, Diaz-Recasens J, Ayuso C, Ramos C. Source: Prenatal Diagnosis. 2003 March; 23(3): 232-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12627425

•

Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene. Author(s): Weber B, Collins C, Kowbel D, Riess O, Hayden MR. Source: Genomics. 1991 December; 11(4): 1113-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1838348

•

Impact of genetic testing for Huntington disease on the family system. Author(s): Sobel SK, Cowan DB. Source: American Journal of Medical Genetics. 2000 January 3; 90(1): 49-59. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10602118

Studies

37

•

Impairment of energy metabolism and excitotoxic cell death in Huntington disease. Author(s): Young AB. Source: Revue Neurologique. 1997 September; 153(8-9): 496-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9683998

•

Improved polymerase chain reaction conditions for quick diagnostics of Huntington disease. Author(s): Culjkovic B, Ruzdijic S, Rakic L, Romac S. Source: Brain Research. Brain Research Protocols. 1997 December 1; 2(1): 44-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9438070

•

Improved predictive testing for Huntington disease by using three linked DNA markers. Author(s): Hayden MR, Robbins C, Allard D, Haines J, Fox S, Wasmuth J, Fahy M, Bloch M. Source: American Journal of Human Genetics. 1988 November; 43(5): 689-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2973229

•

In our parents' shadow. Huntington disease. Author(s): Gelbart M. Source: Nurs Times. 1998 April 22-28; 94(16): 36. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9625960

•

In vitro and in vivo models for Huntington disease: lessons for the polyglutamine expansion disorders. Author(s): Hayden MR. Source: Pathologie-Biologie. 1998 November; 46(9): 695-6. English, French. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9885820

•

Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization. Author(s): Sawa A, Wiegand GW, Cooper J, Margolis RL, Sharp AH, Lawler JF Jr, Greenamyre JT, Snyder SH, Ross CA. Source: Nature Medicine. 1999 October; 5(10): 1194-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10502825

•

Increased basal ganglia iron levels in Huntington disease. Author(s): Bartzokis G, Cummings J, Perlman S, Hance DB, Mintz J. Source: Archives of Neurology. 1999 May; 56(5): 569-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10328252

38

Huntington Disease

•

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Author(s): Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, Buchanan J, Telenius H, Hayden MR. Source: Human Molecular Genetics. 1995 October; 4(10): 1911-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8595415

•

Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Author(s): Allitto BA, MacDonald ME, Bucan M, Richards J, Romano D, Whaley WL, Falcone B, Ianazzi J, Wexler NS, Wasmuth JJ, et al. Source: Genomics. 1991 January; 9(1): 104-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1672283

•

Influence of lamotrigine on progression of early Huntington disease: a randomized clinical trial. Author(s): Kremer B, Clark CM, Almqvist EW, Raymond LA, Graf P, Jacova C, Mezei M, Hardy MA, Snow B, Martin W, Hayden MR. Source: Neurology. 1999 September 22; 53(5): 1000-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10496259

•

Intended use of predictive testing by those at risk for Huntington disease. Author(s): Meissen GJ, Berchek RL. Source: American Journal of Medical Genetics. 1987 February; 26(2): 283-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2949612

•

Interaction of Huntington disease protein with transcriptional activator Sp1. Author(s): Li SH, Cheng AL, Zhou H, Lam S, Rao M, Li H, Li XJ. Source: Molecular and Cellular Biology. 2002 March; 22(5): 1277-87. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11839795

•

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Author(s): Djousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH. Source: American Journal of Medical Genetics. 2003 June 15; 119A(3): 279-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12784292

Studies

39

•

Invited essay on the psychological aspects of genetic counseling. V. Preselection: a family coping strategy in Huntington disease. Author(s): Kessler S. Source: American Journal of Medical Genetics. 1988 November; 31(3): 617-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2976260

•

Isolation and field-inversion gel electrophoresis analysis of DNA markers located close to the Huntington disease gene. Author(s): Pritchard CA, Casher D, Uglum E, Cox DR, Myers RM. Source: Genomics. 1989 April; 4(3): 408-18. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2523854

•

Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene. Author(s): Altherr MR, Smith B, MacDonald ME, Hall L, Wasmuth JJ. Source: Genomics. 1989 October; 5(3): 581-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2575587

•

Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. Author(s): Smith B, Skarecky D, Bengtsson U, Magenis RE, Carpenter N, Wasmuth JJ. Source: American Journal of Human Genetics. 1988 February; 42(2): 335-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2963539

•

Italian Huntington disease patients--data and tissue bank. Author(s): Squitieri F, Cannella M, Gaudio L, Martino T, Maglione V, Giallonardo P, Simonelli M, Simonelli G, Mangeruga D, Ciarmiello A, Pierelli F. Source: Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2003 October; 24(3): 215-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14598094

•

Joseph disease and Huntington disease: protein patterns in fibroblasts and brain. Author(s): Rosenberg RN, Ivy N, Kirkpatrick J, Bay C, Nyhan WL, Baskin F. Source: Neurology. 1981 August; 31(8): 1003-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6455606

•

Juvenile Huntington disease in the Netherlands. Author(s): Siesling S, Vegter-van der Vlis M, Roos RA. Source: Pediatric Neurology. 1997 July; 17(1): 37-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9308974

40

Huntington Disease

•

Juvenile Huntington disease. Author(s): van Dijk JG, van der Velde EA, Roos RA, Bruyn GW. Source: Human Genetics. 1986 July; 73(3): 235-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2942452

•

Juvenile Huntington disease: CT and MR features. Author(s): Ho VB, Chuang HS, Rovira MJ, Koo B. Source: Ajnr. American Journal of Neuroradiology. 1995 August; 16(7): 1405-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7484624

•

Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease. Author(s): Ansved T, Lundin A, Anvret M. Source: Neurology. 1998 November; 51(5): 1442-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9818876

•

Letter: Asphyxiation, bulimia, and insulin levels in Huntington disease (chorea). Author(s): Whittier JR. Source: Jama : the Journal of the American Medical Association. 1976 April 5; 235(14): 1423-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=130504

•

Linkage analysis between Huntington disease and the G8 marker locus. Author(s): Badner JA, Chakravarti A, Buetow KH. Source: Genet Epidemiol Suppl. 1986; 1: 211-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2883077

•

Linkage disequilibrium and modification of risk for Huntington disease. Author(s): Adam S, Theilmann J, Buetow K, Hedrick A, Collins C, Weber B, Huggins M, Hayden M. Source: American Journal of Human Genetics. 1991 March; 48(3): 595-603. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1671809

•

Linkage studies and prediction of risks for Huntington disease. Author(s): Maestri NE, Beaty TH, Meyers DA. Source: Genet Epidemiol Suppl. 1986; 1: 241-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2883082

Studies

41

•

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Author(s): Koizumi T, MacDonald M, Bucan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH. Source: Mammalian Genome : Official Journal of the International Mammalian Genome Society. 1992; 3(1): 23-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1533802

•

Long term treatment of Huntington disease with L-glutamate and pyridoxine. Author(s): Barr AN, Heinze W, Mendoza JE, Perlik S. Source: Neurology. 1978 December; 28(12): 1280-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=153484

•

Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers. Author(s): Kirkwood SC, Siemers E, Stout JC, Hodes ME, Conneally PM, Christian JC, Foroud T. Source: Archives of Neurology. 1999 May; 56(5): 563-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10328251

•

Longitudinal personality changes among presymptomatic Huntington disease gene carriers. Author(s): Kirkwood SC, Siemers E, Viken R, Hodes ME, Conneally PM, Christian JC, Foroud T. Source: Neuropsychiatry, Neuropsychology, and Behavioral Neurology. 2002 September; 15(3): 192-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12218712

•

Long-term impact of Huntington disease linkage testing. Author(s): Taylor CA, Myers RH. Source: American Journal of Medical Genetics. 1997 June 27; 70(4): 365-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9182776

•

Loss of cortical and thalamic neuronal tenascin-C expression in a transgenic mouse expressing exon 1 of the human Huntington disease gene. Author(s): Kusakabe M, Mangiarini L, Laywell ED, Bates GP, Yoshiki A, Hiraiwa N, Inoue J, Steindler DA. Source: The Journal of Comparative Neurology. 2001 February 19; 430(4): 485-500. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11169482

42

Huntington Disease

•

Magnetic resonance imaging in Huntington disease. Author(s): Simmons JT, Pastakia B, Chase TN, Shults CW. Source: Ajnr. American Journal of Neuroradiology. 1986 January-February; 7(1): 25-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2937278

•

Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region. Author(s): Skraastad MI, Bakker E, de Lange LF, Vegter-van der Vlis M, Klein-Breteler EG, van Ommen GJ, Pearson PL. Source: American Journal of Human Genetics. 1989 April; 44(4): 560-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2564732

•

Maternal factors in onset of Huntington disease. Author(s): Myers RH, Cupples LA, Schoenfeld M, D'Agostino RB, Terrin NC, Goldmakher N, Wolf PA. Source: American Journal of Human Genetics. 1985 May; 37(3): 511-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3159258

•

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Author(s): Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR. Source: American Journal of Human Genetics. 2001 February; 68(2): 373-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11225602

•

Membrane fluidity and fatty acid composition of phospholipids in erythrocyte membranes of patients with Huntington disease. Author(s): Abood ME, Butler M. Source: Journal of Neuroscience Research. 1979; 4(3): 183-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=157398

•

Methylation at the Huntington disease-linked D4S95 locus. Author(s): Pritchard CA, Cox DR, Myers RM. Source: American Journal of Human Genetics. 1989 August; 45(2): 335-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2527004

•

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Author(s): Zuhlke C, Riess O, Bockel B, Lange H, Thies U. Source: Human Molecular Genetics. 1993 December; 2(12): 2063-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8111374

Studies

43

•

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Author(s): Telenius H, Kremer HP, Theilmann J, Andrew SE, Almqvist E, Anvret M, Greenberg C, Greenberg J, Lucotte G, Squitieri F, et al. Source: Human Molecular Genetics. 1993 October; 2(10): 1535-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8268906

•

Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. Author(s): Alford RL, Ashizawa T, Jankovic J, Caskey CT, Richards CS. Source: American Journal of Medical Genetics. 1996 December 18; 66(3): 281-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8985488

•

Molecular diagnosis of Huntington disease in Brazilian patients. Author(s): Lima E Silva TC, Serra HG, Bertuzzo CS, Lopes-Cendes I. Source: Arquivos De Neuro-Psiquiatria. 2000 March; 58(1): 11-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10770860

•

Mortality rate of Huntington disease in Japan: secular trends, marital status, and geographical variations. Author(s): Imaizumi Y. Source: Jinrui Idengaku Zasshi. 1989 June; 34(2): 169-78. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2528011

•

Motor changes in presymptomatic Huntington disease gene carriers. Author(s): Siemers E, Foroud T, Bill DJ, Sorbel J, Norton JA Jr, Hodes ME, Niebler G, Conneally PM, Christian JC. Source: Archives of Neurology. 1996 June; 53(6): 487-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8660148

•

MR of human postmortem brain tissue: correlative study between T2 and assays of iron and ferritin in Parkinson and Huntington disease. Author(s): Chen JC, Hardy PA, Kucharczyk W, Clauberg M, Joshi JG, Vourlas A, Dhar M, Henkelman RM. Source: Ajnr. American Journal of Neuroradiology. 1993 March-April; 14(2): 275-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8456699

•

MRI and neuropsychological improvement in Huntington disease following ethylEPA treatment. Author(s): Puri BK, Bydder GM, Counsell SJ, Corridan BJ, Richardson AJ, Hajnal JV, Appel C, Mckee HM, Vaddadi KS, Horrobin DF. Source: Neuroreport. 2002 January 21; 13(1): 123-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11924873

44

Huntington Disease

•

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Author(s): Manley K, Shirley TL, Flaherty L, Messer A. Source: Nature Genetics. 1999 December; 23(4): 471-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10581038

•

MSJAMA. The dilemma of confidentiality in Huntington disease. Author(s): Wusthoff C. Source: Jama : the Journal of the American Medical Association. 2003 September 3; 290(9): 1219-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12953009

•

Multidisciplinary approach to management of a hereditary neurodegenerative disorder: Huntington disease. Author(s): Klimek ML, Rohs G, Young L, Suchowersky O, Trew M. Source: Axone. 1997 December; 19(2): 34-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9481240

•

Mutant protein in Huntington disease is resistant to proteolysis in affected brain. Author(s): Dyer RB, McMurray CT. Source: Nature Genetics. 2001 November; 29(3): 270-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11600884

•

Neuroleptic malignant syndrome caused by dopamine-depleting drugs in a patient with Huntington disease. Author(s): Burke RE, Fahn S, Mayeux R, Weinberg H, Louis K, Willner JH. Source: Neurology. 1981 August; 31(8): 1022-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6115336

•

Neuronal and glial somal size in the prefrontal cortex: a postmortem morphometric study of schizophrenia and Huntington disease. Author(s): Rajkowska G, Selemon LD, Goldman-Rakic PS. Source: Archives of General Psychiatry. 1998 March; 55(3): 215-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9510215

•

New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease. Author(s): Kremer B, Weber B, Hayden MR. Source: Brain Pathology (Zurich, Switzerland). 1992 October; 2(4): 321-35. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1341966

Studies

45

•

N-myc and c-myc expression in Alzheimer disease, Huntington disease and Parkinson disease. Author(s): Ferrer I, Blanco R. Source: Brain Research. Molecular Brain Research. 2000 May 5; 77(2): 270-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10837922

•

Non-disclosing preimplantation genetic diagnosis for Huntington disease. Author(s): Stern HJ, Harton GL, Sisson ME, Jones SL, Fallon LA, Thorsell LP, Getlinger ME, Black SH, Schulman JD. Source: Prenatal Diagnosis. 2002 June; 22(6): 503-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12116316

•

Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease. Author(s): Muglia M, Leone O, Annesi G, Gabriele AL, Imbrogno E, Grandinetti C, Conforti FL, Naso F, Brancati C. Source: Clinical Chemistry. 1996 October; 42(10): 1601-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8855141

•

Non-random association between DNA markers and Huntington disease locus in the Italian population. Author(s): Novelletto A, Mandich P, Bellone E, Malaspina P, Vivona G, Ajmar F, Frontali M. Source: American Journal of Medical Genetics. 1991 September 1; 40(3): 374-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1683157

•

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3. Author(s): Andrew S, Theilmann J, Hedrick A, Mah D, Weber B, Hayden MR. Source: Genomics. 1992 June; 13(2): 301-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1351866

•

Nucleotide sequence and PCR-amplification of a polymorphic MboI site in human DNA marker D4S95 linked to the Huntington disease locus. Author(s): Norremolle A, Sorensen SA, Arctander P. Source: Clinical Genetics. 1992 October; 42(4): 210-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1358489

46

Huntington Disease

•

Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability. Author(s): Williams LC, Hegde MR, Nagappan R, Faull RL, Giles J, Winship I, Snow K, Love DR. Source: Genetic Testing. 2000; 4(1): 55-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10794362

•

Nutritional evaluation of Huntington disease patients. Author(s): Morales LM, Estevez J, Suarez H, Villalobos R, Chacin de Bonilla L, Bonilla E. Source: The American Journal of Clinical Nutrition. 1989 July; 50(1): 145-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2526577

•

Obsessive compulsive disorder in huntington disease: a case of isolated obsessions successfully treated with sertraline. Author(s): Patzold T, Brune M. Source: Neuropsychiatry, Neuropsychology, and Behavioral Neurology. 2002 September; 15(3): 216-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12218715

•

On attitudes and appreciation 6 months after predictive DNA testing for Huntington disease in the Dutch program. Author(s): Tibben A, Frets PG, van de Kamp JJ, Niermeijer MF, Vegtervan der Vlis M, Roos RA, Rooymans HG, van Ommen GJ, Verhage F. Source: American Journal of Medical Genetics. 1993 July 15; 48(2): 103-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8362926

•

On planting alfalfa and growing orchids: the cloning of the gene causing Huntington disease. Author(s): Hayden MR. Source: Clinical Genetics. 1993 May; 43(5): 217-22. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8375101

•

Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Author(s): Bloch M, Hayden MR. Source: American Journal of Human Genetics. 1990 January; 46(1): 1-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2136787

•

Oral motor dysfunction in individuals at risk of Huntington disease. Author(s): Coleman R, Anderson D, Lovrien E. Source: American Journal of Medical Genetics. 1990 September; 37(1): 36-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2146877

Studies

47

•

Origins and evolution of Huntington disease chromosomes. Author(s): Andrew SE, Hayden MR. Source: Neurodegeneration : a Journal for Neurodegenerative Disorders, Neuroprotection, and Neuroregeneration. 1995 September; 4(3): 239-44. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8581556

•

Outrageous fortune: the risk of suicide in genetic testing for Huntington disease. Author(s): Bird TD. Source: American Journal of Human Genetics. 1999 May; 64(5): 1289-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10205259

•

Patients' rights to laboratory data: trinucleotide repeat length in Huntington disease. Author(s): Burgess MM, Hayden MR. Source: American Journal of Medical Genetics. 1996 March 1; 62(1): 6-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8779327

•

Patterns of meiotic variability of the (CAG)n repeat in the Huntington disease gene. Author(s): Lucotte G, Gerard N, Aouizerate A, Loirat F, Hazout S. Source: Genet Couns. 1997; 8(2): 77-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9219003

•

PCR analysis of a three-allelic PvuII--RFLP at D4S127 closely linked to the Huntington disease locus. Author(s): Willoh R, Zuhlke C, Gerdes B, Wiese S, Thies U. Source: Clinical Genetics. 1993 June; 43(6): 321-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8103713

•

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease. Author(s): Scott HS, Nelson PV, Hopwood JJ, Morris CP. Source: Nucleic Acids Research. 1991 November 25; 19(22): 6348. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1835536

•

PCR reagents for detection of (CAG)n repeats in Huntington disease. Author(s): Toth T, Nagy B, Papp Z. Source: Clinical Chemistry. 1997 August; 43(8 Pt 1): 1463. Erratum In: Clin Chem 1997 October; 43(10): 2004. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9267332

48

Huntington Disease

•

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Author(s): Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR, et al. Source: American Journal of Human Genetics. 1996 July; 59(1): 16-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8659522

•

Phosphorus 31 magnetic resonance spectroscopy in patients with Huntington disease. Author(s): Williamson PC, Malla A, Cortese L, Stoessl AJ, Drost D, Stanley JA. Source: Archives of General Psychiatry. 1997 February; 54(2): 186-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9040287

•

Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing. Author(s): Yu S, Fimmel A, Fung D, Trent RJ. Source: Clinical Genetics. 2000 December; 58(6): 469-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11149616

•

Predictability of age at onset in Huntington disease in the Dutch population. Author(s): Maat-Kievit A, Losekoot M, Zwinderman K, Vegter-van der Vlis M, Belfroid R, Lopez F, Van Ommen GJ, Breuning M, Roos R. Source: Medicine; Analytical Reviews of General Medicine, Neurology, Psychiatry, Dermatology, and Pediatrics. 2002 July; 81(4): 251-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12169880

•

Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997). Author(s): Maat-Kievit A, Vegter-Van Der Vlis M, Zoeteweij M, Losekoot M, van Haeringen A, Roos RA. Source: American Journal of Medical Genetics. 1999 December 15; 88(6): 662-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10581487

•

Predictors of nursing home placement in Huntington disease. Author(s): Wheelock VL, Tempkin T, Marder K, Nance M, Myers RH, Zhao H, Kayson E, Orme C, Shoulson I; Huntington Study Group. Source: Neurology. 2003 March 25; 60(6): 998-1001. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12654967

Studies

49

•

Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Author(s): Schulman JD, Black SH, Handyside A, Nance WE. Source: Clinical Genetics. 1996 February; 49(2): 57-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8740912

•

Presymptomatic DNA testing for Huntington disease: identifying the need for psychological intervention. Author(s): Tibben A, Duivenvoorden HJ, Vegter-van der Vlis M, Niermeijer MF, Frets PG, van de Kamp JJ, Roos RA, Rooijmans HG, Verhage F. Source: American Journal of Medical Genetics. 1993 October 15; 48(3): 137-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8291567

•

Presymptomatic testing for Huntington disease in the United States. Author(s): Quaid KA. Source: American Journal of Human Genetics. 1993 September; 53(3): 785-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8352286

•

Prevalence of Huntington disease in New South Wales in 1996. Author(s): McCusker EA, Casse RF, Graham SJ, Williams DB, Lazarus R. Source: The Medical Journal of Australia. 2000 August 21; 173(4): 187-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11008591

•

Progression of symptoms in the early and middle stages of Huntington disease. Author(s): Kirkwood SC, Su JL, Conneally P, Foroud T. Source: Archives of Neurology. 2001 February; 58(2): 273-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11176966

•

Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine. Author(s): Karpuj MV, Becher MW, Springer JE, Chabas D, Youssef S, Pedotti R, Mitchell D, Steinman L. Source: Nature Medicine. 2002 February; 8(2): 143-9. Erratum In: Nat Med 2002 March; 8(3): 303. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11821898

•

Protocol for genetic testing in Huntington disease: three years of experience in Minnesota. Author(s): Nance MA, Leroy BS, Orr HT, Parker T, Rich SS, Heston LL. Source: American Journal of Medical Genetics. 1991 September 15; 40(4): 518-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1836107

50

Huntington Disease

•

Psychological impact of news of genetic risk for Huntington disease. Author(s): Horowitz MJ, Field NP, Zanko A, Donnelly EF, Epstein C, Longo F. Source: American Journal of Medical Genetics. 2001 October 15; 103(3): 188-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11745989

•

Psychosocial impact of predictive testing for Huntington disease on support persons. Author(s): Williams JK, Schutte DL, Holkup PA, Evers C, Muilenburg A. Source: American Journal of Medical Genetics. 2000 June 12; 96(3): 353-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10898914

•

Quantitative autoradiography of neurotransmitter receptors in Huntington disease. Author(s): Penney JB Jr, Young AB. Source: Neurology. 1982 December; 32(12): 1391-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6292789

•

R.H.I.S.A. -- cysternography study in sporadic choreo-athetotic syndrome accompanied with dementia (sporadic Huntington disease). Author(s): Vardi J, Flechter S, Rabi JM, Streifler M. Source: Riv Patol Nerv Ment. 1979 September-October; 100(5): 245-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=162355

•

Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. Author(s): Altherr MR, Plummer S, Bates G, MacDonald M, Taylor S, Lehrach H, Frischauf AM, Gusella JF, Boehnke M, Wasmuth JJ. Source: Genomics. 1992 August; 13(4): 1040-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1387106

•

Rapid onset of tardive dyskinesia in Huntington disease with olanzapine. Author(s): Benazzi F. Source: Journal of Clinical Psychopharmacology. 2002 August; 22(4): 438-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12172349

•

Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status. Author(s): Wahlin TB, Lundin A, Backman L, Almqvist E, Haegermark A, Winblad B, Anvret M. Source: American Journal of Medical Genetics. 1997 December 19; 73(3): 356-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9415699

Studies

51

•

Recent insights into the molecular pathogenesis of Huntington disease. Author(s): Leavitt BR, Wellington CL, Hayden MR. Source: Seminars in Neurology. 1999; 19(4): 385-95. Review. Erratum In: Semin Neurol 2000; 20(2): 269. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10716661

•

Recombination of 4p16 DNA markers in an unusual family with Huntington disease. Author(s): Pritchard C, Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR, et al. Source: American Journal of Human Genetics. 1992 June; 50(6): 1218-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1350884

•

Regional cerebral glucose metabolism differs in adult and rigid juvenile forms of Huntington disease. Author(s): Matthews PM, Evans AC, Andermann F, Hakim AM. Source: Pediatric Neurology. 1989 November-December; 5(6): 353-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2532511

•

Reluctance to undergo predictive testing: the case of Huntington disease. Author(s): Quaid KA, Morris M. Source: American Journal of Medical Genetics. 1993; 45: 41-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11657397

•

Reluctance to undergo predictive testing: the case of Huntington disease. Author(s): Quaid KA, Morris M. Source: American Journal of Medical Genetics. 1993 January 1; 45(1): 41-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8418657

•

Reorientation of attention in Huntington disease. Author(s): Georgiou-Karistianis N, Churchyard A, Chiu E, Bradshaw JL. Source: Neuropsychiatry, Neuropsychology, and Behavioral Neurology. 2002 December; 15(4): 225-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12464749

•

Response to Hayden, Bloch, Fox and Crauford: presymptomatic and prenatal testing in Huntington disease. Author(s): Shaw MW. Source: American Journal of Medical Genetics. 1987 November; 28(3): 765-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2962496

52

Huntington Disease

•

Risk reversals in predictive testing for Huntington disease. Author(s): Almqvist E, Adam S, Bloch M, Fuller A, Welch P, Eisenberg D, Whelan D, Macgregor D, Meschino W, Hayden MR. Source: American Journal of Human Genetics. 1997 October; 61(4): 945-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9382108

•

Screening for Huntington disease and certain other dominantly inherited disorders: a case for preimplantation genetic testing. Author(s): Schulman JD, Black SH. Source: Journal of Medical Screening. 1997; 4(2): 58-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9275265

•

Segregation of the Huntington disease region of human chromosome 4 in a somatic cell hybrid. Author(s): Cox DR, Pritchard CA, Uglum E, Casher D, Kobori J, Myers RM. Source: Genomics. 1989 April; 4(3): 397-407. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2523853

•

Sequence analysis of the CAG triplet repeats region in the Huntington disease gene (IT15) in several mammalian species. Author(s): Pecheux C, Gall AL, Kaplan JC, Dode C. Source: Annales De Genetique. 1996; 39(2): 81-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8766138

•

Serum iron, total iron binding capacity and ferritin in early Huntington disease patients. Author(s): Morrison PJ, Nevin NC. Source: Ir J Med Sci. 1994 May; 163(5): 236-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8045729

•

Severity of cognitive impairment in juvenile and late-onset Huntington disease. Author(s): Gomez-Tortosa E, del Barrio A, Garcia Ruiz PJ, Pernaute RS, Benitez J, Barroso A, Jimenez FJ, Garcia Yebenes J. Source: Archives of Neurology. 1998 June; 55(6): 835-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9626775

•

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Author(s): Kremer B, Almqvist E, Theilmann J, Spence N, Telenius H, Goldberg YP, Hayden MR. Source: American Journal of Human Genetics. 1995 August; 57(2): 343-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7668260

Studies

53

•

Short-term effects of olanzapine in Huntington disease. Author(s): Squitieri F, Cannella M, Piorcellini A, Brusa L, Simonelli M, Ruggieri S. Source: Neuropsychiatry, Neuropsychology, and Behavioral Neurology. 2001 January; 14(1): 69-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11234911

•

Significantly lower incidence of cancer among patients with Huntington disease: An apoptotic effect of an expanded polyglutamine tract? Author(s): Sorensen SA, Fenger K, Olsen JH. Source: Cancer. 1999 October 1; 86(7): 1342-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10506723

•

Skin fibroblasts in Huntington disease. Author(s): Goetz IE, Roberts E, Warren J. Source: American Journal of Human Genetics. 1981 March; 33(2): 187-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6452059

•

Social system responses to Huntington disease. Author(s): Kessler S, Bloch M. Source: Family Process. 1989 March; 28(1): 59-68. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2522897

•

Somatic expansion of the (CAG)n repeat in Huntington disease brains. Author(s): De Rooij KE, De Koning Gans PA, Roos RA, Van Ommen GJ, Den Dunnen JT. Source: Human Genetics. 1995 March; 95(3): 270-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7868117

•

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Author(s): Telenius H, Almqvist E, Kremer B, Spence N, Squitieri F, Nichol K, Grandell U, Starr E, Benjamin C, Castaldo I, et al. Source: Human Molecular Genetics. 1995 February; 4(2): 189-95. Erratum In: Hum Mol Genet 1995 May; 4(5): 974. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7757066

•

Somatostatin is increased in the basal ganglia in Huntington disease. Author(s): Aronin N, Cooper PE, Lorenz LJ, Bird ED, Sagar SM, Leeman SE, Martin JB. Source: Annals of Neurology. 1983 May; 13(5): 519-26. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6191621

54

Huntington Disease

•

Southern transfer protocol for confirmation of Huntington disease. Author(s): Guida M, Fenwick RG, Papp AC, Snyder PJ, Sedra M, Prior TW. Source: Clinical Chemistry. 1996 October; 42(10): 1711-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8855159

•

SPECT with HMPAO compared to PET with FDG in Huntington disease. Author(s): Boecker H, Kuwert T, Langen KJ, Lange HW, Czech N, Ziemons K, Herzog H, Shikare S, Weindl A, Feinendegen LE. Source: Journal of Computer Assisted Tomography. 1994 July-August; 18(4): 542-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8040434

•

Spin label electron paramagnetic resonance (EPR) studies of Huntington disease erythrocyte membranes. Author(s): Fung LW, Ostrowski MS. Source: American Journal of Human Genetics. 1982 May; 34(3): 469-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6282120

•

Stability of the Huntington disease (CAG)n repeat in a late onset form occuring on the Island of Crete. Author(s): Tzagournissakis M, Fesdjian CO, Shashidharan P, Plaitakis A. Source: Human Molecular Genetics. 1995 December; 4(12): 2239-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8634693

•

Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms. Author(s): Lin B, Nasir J, Kalchman MA, McDonald H, Zeisler J, Goldberg YP, Hayden MR. Source: Genomics. 1995 February 10; 25(3): 707-15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7759106

•

Sympathetic skin response and heart rate variability in patients with Huntington disease. Author(s): Sharma KR, Romano JG, Ayyar DR, Rotta FT, Facca A, Sanchez-Ramos J. Source: Archives of Neurology. 1999 October; 56(10): 1248-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10520941

•

Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. Author(s): Cheng SV, Martin GR, Nadeau JH, Haines JL, Bucan M, Kozak CA, MacDonald ME, Lockyer JL, Ledley FD, Woo SL, et al. Source: Genomics. 1989 April; 4(3): 419-26. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2523855

Studies

55

•

Testing the test--why pursue a better test for Huntington disease? Author(s): Timman R, Maat-Kievit A, Brouwer-DudokdeWit C, Zoeteweij M, Breuning MH, Tibben A. Source: American Journal of Medical Genetics. 2003 Feb15; 117B(1): 79-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12555240

•

The “flap” endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease. Author(s): Otto CJ, Almqvist E, Hayden MR, Andrew SE. Source: Clinical Genetics. 2001 February; 59(2): 122-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11260214

•

The detection of a VNTR at the Huntington disease genetic marker D4S10. Author(s): Carlock L, Vo T. Source: Human Molecular Genetics. 1993 July; 2(7): 1079. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8364554

•

The dilemma of suicide and Huntington disease. Author(s): Kessler S. Source: American Journal of Medical Genetics. 1987 February; 26(2): 315-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2949615

•

The end in sight for Huntington disease? Author(s): Pritchard C, Cox DR, Myers RM. Source: American Journal of Human Genetics. 1991 July; 49(1): 1-6. Erratum In: Am J Hum Genet 1991 November; 49(5): 1106. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1829579

•

The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis. Author(s): Stine OC, Smith KD. Source: American Journal of Human Genetics. 1990 March; 46(3): 452-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2137963

•

The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum. Author(s): Kahlem P, Djian P. Source: Neuroscience Letters. 2000 June 9; 286(3): 203-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10832020

56

Huntington Disease

•

The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere. Author(s): Doggett NA, Cheng JF, Smith CL, Cantor CR. Source: Proceedings of the National Academy of Sciences of the United States of America. 1989 December; 86(24): 10011-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2557612

•

The identification of a functional nuclear localization signal in the Huntington disease protein. Author(s): Bessert DA, Gutridge KL, Dunbar JC, Carlock LR. Source: Brain Research. Molecular Brain Research. 1995 October; 33(1): 165-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8774958

•

The interaction of a Huntington disease factor with receptors for the neurotoxin kainic acid. Author(s): Dodd PR, Watson WE, Morrison MM, Johnston GA, Smith AI, Ruwoldt A, Walls RS. Source: Metabolic Brain Disease. 1991 December; 6(4): 213-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1667427

•

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Author(s): Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR. Source: American Journal of Human Genetics. 1997 May; 60(5): 1202-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9150168

•

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Author(s): Farrer LA, Cupples LA, Wiater P, Conneally PM, Gusella JF, Myers RH. Source: American Journal of Human Genetics. 1993 July; 53(1): 125-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8317477

•

The paradigm of Huntington disease. Author(s): Jenkins JB, Conneally PM. Source: American Journal of Human Genetics. 1989 July; 45(1): 169-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2525874

•

The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls. Author(s): Keckarevic D, Culjkovic B, Savic D, Stojkovic O, Kostic V, Vukosavic S, Romac S. Source: Journal of Neurogenetics. 2000 December; 14(4): 257-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11342385

Studies

57

•

Transcriptional abnormalities in Huntington disease. Author(s): Sugars KL, Rubinsztein DC. Source: Trends in Genetics : Tig. 2003 May; 19(5): 233-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12711212

•

Transglutaminase cross-links in intranuclear inclusions in Huntington disease. Author(s): Zainelli GM, Ross CA, Troncoso JC, Muma NA. Source: Journal of Neuropathology and Experimental Neurology. 2003 January; 62(1): 14-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12528814

•

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. Author(s): Norremolle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sorensen SA. Source: Human Molecular Genetics. 1993 September; 2(9): 1475-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8242074

•

Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method. Author(s): Hofferbert S, Schanen NC, Chehab F, Francke U. Source: Human Molecular Genetics. 1997 January; 6(1): 77-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9002673

•

Two centuries of mortality in ten large families with Huntington disease: a rising impact of gene carriership. Author(s): Hille ET, Siesling S, Vegter-van der Vlis M, Vandenbroucke JP, Roos RA, Rosendaal FR. Source: Epidemiology (Cambridge, Mass.). 1999 November; 10(6): 706-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10535784

•

Two novel single-base-pair substitutions adjacent to the CAG repeat in the huntington disease gene (IT15): implications for diagnostic testing. Author(s): Margolis RL, Stine OC, Callahan C, Rosenblatt A, Abbott MH, Sherr M, Ross CA. Source: American Journal of Human Genetics. 1999 January; 64(1): 323-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9915978

•

Understanding the decision to take the predictive test for Huntington disease. Author(s): Meissen GJ, Mastromauro CA, Kiely DK, McNamara DS, Myers RH. Source: American Journal of Medical Genetics. 1991 June 15; 39(4): 404-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1678928

58

Huntington Disease

•

Use of the G8 probe in predicting risk of Huntington disease. Author(s): Maestri NE, Beaty TH, Folstein SE, Meyers DA. Source: American Journal of Medical Genetics. 1987 December; 28(4): 989-97. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2961260

•

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease. Author(s): Maat-Kievit A, Helderman-van den Enden P, Losekoot M, de Knijff P, Belfroid R, Vegter-van der Vlis M, Roos R, Breuning M. Source: American Journal of Medical Genetics. 2001 December 8; 105(8): 737-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11803522

•

Using survival methods to estimate age-at-onset distributions for genetic diseases with an application to Huntington disease. Author(s): Cupples LA, Terrin NC, Myers RH, D'Agostino RB. Source: Genetic Epidemiology. 1989; 6(2): 361-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2524419

•

Viral susceptibility of skin fibroblasts from patients with Huntington disease. Author(s): Miller CA, Rasheed S. Source: American Journal of Human Genetics. 1981 March; 33(2): 197-202. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6259937

•

Visually guided exploration in Huntington disease. Author(s): Lang CJ, Reischies FM, Majer M, Daum RF. Source: Cortex. 1999 September; 35(4): 583-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10574083

59

CHAPTER 2. DISSERTATIONS ON HUNTINGTON DISEASE Overview In this chapter, we will give you a bibliography on recent dissertations relating to huntington disease. We will also provide you with information on how to use the Internet to stay current on dissertations. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical dissertations that use the generic term “huntington disease” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on huntington disease, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Huntington Disease ProQuest Digital Dissertations, the largest archive of academic dissertations available, is located at the following Web address: http://wwwlib.umi.com/dissertations. From this archive, we have compiled the following list covering dissertations devoted to huntington disease. You will see that the information provided includes the dissertation’s title, its author, and the institution with which the author is associated. The following covers recent dissertations found when using this search procedure: •

A Model for the Early Identification of Individuals with Juvenile Onset Huntington's Disease (Huntington Disease) by Artigliere-Cavalier, Julia Marie, PhD from University of Colorado at Boulder, 1989, 155 pages http://wwwlib.umi.com/dissertations/fullcit/8923478

•

Assessing the Psychological Impact of Predictive Testing for Huntington Disease on Young Adults by Mosher, Kara Michelle; MS from Sarah Lawrence College, 2003, 67 pages http://wwwlib.umi.com/dissertations/fullcit/1413589

•

'It's Not a Secret But...': Predictive Testing and Patterns of Communication about Genetic Information in Families at Risk for Huntington Disease by Cox, Susan Margaret; PhD from The University of British Columbia (Canada), 1999, 502 pages http://wwwlib.umi.com/dissertations/fullcit/NQ46334

60

Huntington Disease

Keeping Current Ask the medical librarian at your library if it has full and unlimited access to the ProQuest Digital Dissertations database. From the library, you should be able to do more complete searches via http://wwwlib.umi.com/dissertations.

61

CHAPTER 3. CLINICAL TRIALS AND HUNTINGTON DISEASE Overview In this chapter, we will show you how to keep informed of the latest clinical trials concerning huntington disease.

Recent Trials on Huntington Disease The following is a list of recent trials dedicated to huntington disease.7 Further information on a trial is available at the Web site indicated. •

Brain Tissue Collection for Neuropathological Studies Condition(s): Bipolar Disorder; Huntington Disease; Schizophrenia; Tourette Syndrome; Dementia Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Mental Health (NIMH) Purpose - Excerpt: The purpose of this study is to collect and study the brain tissue of deceased individuals to learn more about the nervous system and mental disorders. Information gained from donated tissue may lead to better treatments and potential cures for nervous system and mental disorders. This study will ask relatives of deceased individuals to donate the brains of their deceased relatives to allow further study of neurological and psychiatric disorders. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001260

•

Family Health After Predictive Huntington Disease (HD) Testing Condition(s): Huntington Disease Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Nursing Research (NINR)

7

These are listed at www.ClinicalTrials.gov.

62

Huntington Disease

Purpose - Excerpt: The purpose of this study is to identify health management concerns and needs of family members of asymptomatic and symptomatic persons with mutation in the gene for Huntington Disease (HD). Phase(s): Phase III Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00075140 •

Neurobiological Predictors of Huntington's Disease (PREDICT-HD) Condition(s): Huntington Disease Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) Purpose - Excerpt: The purpose of this trial is to study early brain and behavioral changes in people who have the gene expansion for Huntington's disease, but are currently healthy and have no symptoms. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00051324

•

Prospective Huntington At Risk Observational Study (PHAROS) Condition(s): Huntington Disease Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS); National Human Genome Research Institute (NHGRI) Purpose - Excerpt: The purpose of this study is to define the natural history and experiences of people who are at risk for developing Huntington's disease but who do not know their genetic status. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00052143

Keeping Current on Clinical Trials The U.S. National Institutes of Health, through the National Library of Medicine, has developed ClinicalTrials.gov to provide current information about clinical research across the broadest number of diseases and conditions. The site was launched in February 2000 and currently contains approximately 5,700 clinical studies in over 59,000 locations worldwide, with most studies being conducted in the United States. ClinicalTrials.gov receives about 2 million hits per month and hosts approximately 5,400 visitors daily. To access this database, simply go to the Web site at http://www.clinicaltrials.gov/ and search by “huntington disease” (or synonyms).

Clinical Trials 63

While ClinicalTrials.gov is the most comprehensive listing of NIH-supported clinical trials available, not all trials are in the database. The database is updated regularly, so clinical trials are continually being added. The following is a list of specialty databases affiliated with the National Institutes of Health that offer additional information on trials: •

For clinical studies at the Warren Grant Magnuson Clinical Center located in Bethesda, Maryland, visit their Web site: http://clinicalstudies.info.nih.gov/

•

For clinical studies conducted at the Bayview Campus in Baltimore, Maryland, visit their Web site: http://www.jhbmc.jhu.edu/studies/index.html

•

For cancer trials, visit the National Cancer Institute: http://cancertrials.nci.nih.gov/

•

For eye-related trials, visit and search the Web page of the National Eye Institute: http://www.nei.nih.gov/neitrials/index.htm

•

For heart, lung and blood trials, visit the Web page of the National Heart, Lung and Blood Institute: http://www.nhlbi.nih.gov/studies/index.htm

•

For trials on aging, visit and search the Web site of the National Institute on Aging: http://www.grc.nia.nih.gov/studies/index.htm

•

For rare diseases, visit and search the Web site sponsored by the Office of Rare Diseases: http://ord.aspensys.com/asp/resources/rsch_trials.asp

•

For alcoholism, visit the National Institute on Alcohol Abuse and Alcoholism: http://www.niaaa.nih.gov/intramural/Web_dicbr_hp/particip.htm

•

For trials on infectious, immune, and allergic diseases, visit the site of the National Institute of Allergy and Infectious Diseases: http://www.niaid.nih.gov/clintrials/

•

For trials on arthritis, musculoskeletal and skin diseases, visit newly revised site of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health: http://www.niams.nih.gov/hi/studies/index.htm

•

For hearing-related trials, visit the National Institute on Deafness and Other Communication Disorders: http://www.nidcd.nih.gov/health/clinical/index.htm

•

For trials on diseases of the digestive system and kidneys, and diabetes, visit the National Institute of Diabetes and Digestive and Kidney Diseases: http://www.niddk.nih.gov/patient/patient.htm

•

For drug abuse trials, visit and search the Web site sponsored by the National Institute on Drug Abuse: http://www.nida.nih.gov/CTN/Index.htm

•

For trials on mental disorders, visit and search the Web site of the National Institute of Mental Health: http://www.nimh.nih.gov/studies/index.cfm

•

For trials on neurological disorders and stroke, visit and search the Web site sponsored by the National Institute of Neurological Disorders and Stroke of the NIH: http://www.ninds.nih.gov/funding/funding_opportunities.htm#Clinical_Trials

65

CHAPTER 4. PATENTS ON HUNTINGTON DISEASE Overview Patents can be physical innovations (e.g. chemicals, pharmaceuticals, medical equipment) or processes (e.g. treatments or diagnostic procedures). The United States Patent and Trademark Office defines a patent as a grant of a property right to the inventor, issued by the Patent and Trademark Office.8 Patents, therefore, are intellectual property. For the United States, the term of a new patent is 20 years from the date when the patent application was filed. If the inventor wishes to receive economic benefits, it is likely that the invention will become commercially available within 20 years of the initial filing. It is important to understand, therefore, that an inventor’s patent does not indicate that a product or service is or will be commercially available. The patent implies only that the inventor has “the right to exclude others from making, using, offering for sale, or selling” the invention in the United States. While this relates to U.S. patents, similar rules govern foreign patents. In this chapter, we show you how to locate information on patents and their inventors. If you find a patent that is particularly interesting to you, contact the inventor or the assignee for further information. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical patents that use the generic term “huntington disease” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on huntington disease, we have not necessarily excluded non-medical patents in this bibliography.

Patents on Huntington Disease By performing a patent search focusing on huntington disease, you can obtain information such as the title of the invention, the names of the inventor(s), the assignee(s) or the company that owns or controls the patent, a short abstract that summarizes the patent, and a few excerpts from the description of the patent. The abstract of a patent tends to be more technical in nature, while the description is often written for the public. Full patent descriptions contain much more information than is presented here (e.g. claims, references, figures, diagrams, etc.). We will tell you how to obtain this information later in the chapter. 8Adapted

from the United States Patent and Trademark Office: http://www.uspto.gov/web/offices/pac/doc/general/whatis.htm.

66

Huntington Disease

The following is an example of the type of information that you can expect to obtain from a patent search on huntington disease: •

4-substituted piperidine analogs and their use as subtype selective NMDA receptor antagonists Inventor(s): Bigge; Christopher F. (Ann Arbor, MI), Cai; Sui Xiong (Foothill, CA), Keana; John F.W. (Eugene, OR), Lan; Nancy C. (South Pasadena, CA), Weber; Eckard (Laguna Beach, CA), Woodward; Richard (Aliso Viejo, CA), Wright; Jonathan (Ann Arbor, MI), Zhou; Zhang-Lin (Irvine, CA) Assignee(s): Cocensys, Incorporated (irvine, Ca), Warner-lambert Company (morris Plains, Nj) Patent Number: 6,448,270 Date filed: June 13, 2000 Abstract: Novel 4-substituted piperidine analogs, pharmaceutical compositions containing the same and the method of using the 4-substituted piperidine analogs as selectively active antagonists of N-methyl-D-aspartate (NMDA) receptor subtypes for treating conditions such as cerebral ischemia, central nervous system trauma, hypoglycemia, neurodegenerative disorders, anxiety, migraine headaches, convulsions, aminoglycoside antibiotics-induced hearing loss, chronic pain, psychosis, glaucoma, CMV retinitis, opioid tolerance or withdrawal, urinary incontinence and neurodegenerative disorders such as lathyrism, Alzheimers' Disease, Parkinsonism, and Huntington's Disease are described. Also described are novel methods for preparing 4substituted piperidine analogs and novel intermediates of the 4-substituted piperidine analogs. Excerpt(s): This invention is related to 4-substituted piperidine analogs, including hydroxypiperidine and tetrahydropyridine analogs, as well as novel intermediates of the 4-substituted analogs. The analogs are selectively active as antagonists of N-methylD-aspartate (NMDA) receptor subtypes. The invention is also directed to the use of 4substituted piperidine analogs as neuroprotective agents for treating conditions such as stroke, cerebral ischemia, central nervous system trauma, hypoglycemia, anxiety, convulsions, aminoglycoside antibiotics-induced hearing loss, migraine headache, chronic pain, glaucoma, CMV retinitis, psychosis, urinary incontinence, opioid tolerance or withdrawal, or neuro-degenerative disorders such as lathyrism, Alzheimer's Disease, Parkinsonism and Huntington's Disease. Excessive excitation by neurotransmitters can cause the degeneration and death of neurons. It is believed that this degeneration is in part mediated by the excitotoxic actions of the excitatory amino acids (EAA) glutamate and aspartate at the N-methyl-D-Aspartate (NMDA) receptor. This excitotoxic action is considered responsible for the loss of neurons in cerebrovascular disorders such as cerebral ischemia or cerebral infarction resulting from a range of conditions, such as thromboembolic or hemorrhagic stroke, cerebral vasospasms, hypoglycemia, cardiac arrest, status epilepticus, perinatal asphyxia, anoxia such as from drowning, pulmonary surgery and cerebral trauma, as well as lathyrism, Alzheimer's Disease, Parkinson's Disease and Huntington's Disease. Ar.sup.1 and Ar.sup.2 are each independently substituted or unsubstituted aryl, a heteroaromatic ring, or a heteroaromatic bicylic ring. The tetrahydropyridines and hydroxypiperidines of this reference are indicated to be useful as central nervous system agents, particularly as dopaminergic, antipsychotic and antihypertensive agents, and for treating central nervous system disorders such as Parkinson Disease, Huntington Disease and depression. The particular 4-substituted piperidines, including the 4-hydroxypiperdines and tetrahydropyridines of this

Patents 67

invention are not exemplified. In addition, there is no disclosure or suggestion of treating disorders with selective NMDA receptor subtype antagonists and the advantages of such treatment. Web site: http://www.delphion.com/details?pn=US06448270__

Patent Applications on Huntington Disease As of December 2000, U.S. patent applications are open to public viewing.9 Applications are patent requests which have yet to be granted. (The process to achieve a patent can take several years.) The following patent applications have been filed since December 2000 relating to huntington disease: •

4-Substituted piperidine analogs and their use as subtype selective NMDA receptor, antagonists Inventor(s): Bigge, Christopher F.; (Ann Arbor, MI), Cai, Sui Xiong; (Foothill, CA), Keana, John F.W.; (Eugene, OR), Lan, Nancy F.; (South Pasadena, CA), Weber, Eckard; (Laguna Beach, CA), Woodward, Richard; (Aliso Viejo, CA), Wright, Jonathan; (Ann Arbor, MI), Zhou, Zhang-Lin; (Irvine, CA) Correspondence: Fitzpatrick Cella Harper & Scinto; 30 Rockefeller Plaza; New York; NY; 10112; US Patent Application Number: 20030105133 Date filed: July 29, 2002 Abstract: Novel 4-substituted piperidine analogs, pharmaceutical compositions containing the same and the method of using 4-substituted piperidine analogs as selectively active antagonists of N-methyl-D-aspartate (NMDA) receptor subtypes for treating conditions such as stroke, cerebral ischemia, central nervous system trauma, hypoglycemia, anxiety, convulsions, aminoglycoside antibiotics-induced hearing loss, migraine headaches, glaucoma, CMV retinitis, chronic pain, opioid tolerance or withdrawals, or neurodegenerative disorders, such as lathyrism, Alzheimer's Disease, Parkinsonism and Huntington's Disease are described. Also described are novel methods for preparing 4-substituted piperidine analogs and novel intermediates of the 4-substituted piperidine analogs. Excerpt(s): This invention is related to 4-substituted piperidine analogs, including hydroxypiperidine and tetrahydropyridine analogs, as well as novel intermediates of the 4-substituted analogs. The analogs are selectively active as antagonists of N-methylD-aspartate (NMDA) receptor subtypes. The invention is also directed to the use of 4substituted piperidine analogs as neuroprotective agents for treating conditions such as stroke, cerebral ischemia, central nervous system trauma, hypoglycemia, anxiety, convulsions, aminoglycoside antibiotics-induced hearing loss, migraine headache, chronic pain, glaucoma, CMV retinitis, psychosis, urinary incontinence, opioid tolerance or withdrawal, or neuro-degenerative disorders such as lathyrism, Alzheimer's Disease, Parkinsonism and Huntington's Disease. Excessive excitation by neurotransmitters can cause the degeneration and death of neurons. It is believed that this degeneration is in part mediated by the excitotoxic actions of the excitatory amino acids (EAA) glutamate and aspartate at the N-methyl-D-Aspartate (NMDA) receptor. This excitotoxic action is

9

This has been a common practice outside the United States prior to December 2000.

68

Huntington Disease

considered responsible for the loss of neurons in cerebrovascular disorders such as cerebral ischemia or cerebral infarction resulting from a range of conditions, such as thromboembolic or hemorrhagic stroke, cerebral vasospasms, hypoglycemia, cardiac arrest, status epilepticus, perinatal asphyxia, anoxia such as from drowning, pulmonary surgery and cerebral trauma, as well as lathyrism, Alzheimer's Disease, Parkinson's Disease and Huntington's Disease. Ar.sup.1 and Ar.sup.2 are each independently substituted or unsubstituted aryl, a heteroaromatic ring, or a heteroaromatic bicylic ring. The tetrahydropyridines and hydroxypiperidines of this reference are indicated to be useful as central nervous system agents, particularly as dopaminergic, antipsychotic and antihypertensive agents, and for treating central nervous system disorders such as Parkinson Disease, Huntington Disease and depression. The particular 4-substituted piperidines, including the 4-hydroxypiperdines and tetrahydropyridines of this invention are not exemplified. In addition, there is no disclosure or suggestion of treating disorders with selective NMDA receptor subtype antagonists and the advantages of such treatment. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html •

Immortalized human microglia cell and continuous cell line Inventor(s): Kim, Seung U.; (Vancover, CA) Correspondence: David Prashker, P.C.; P.O. Box 5387; Magnolia; MA; 01930; US Patent Application Number: 20030082139 Date filed: June 22, 2001 Abstract: An immortalized human cell line is provided which has the characteristics of human embryonic microglia. Such immortalized microglia cells express CD68, CD11c and MHC class I and II antigens as surface markers; have demonstrable phagocytic properties; and produce progeny continuously while maintained in culture. A method of transforming human microglial cells into an immortalized cell line is also provided. The genetically modified human microglia cells can express active substances from a selected group consisting of MIP-1.beta., MCP-1, IL-1.beta., IL-6, IL-12, and IL-15; and in the stimulated state can overexpress at lest cytokines, chemokines, and other cytotoxic and neurotoxic substances. Such immortalized microglia cells can be used for screening of compounds for diseases. These cells may be utilized for the treatment of at least Alzheimer disease, Parkinson disease, Huntington disease, amyotrophic lateral sclerosis, stroke, spinal cord injuries, ataxia, autoimmune diseases and AIDS-dementia. Excerpt(s): This application is a Continuation-In-Part of U.S. patent application Ser. No. 09/855,468 filed May 15, 2001, now pending; and of International Patent Application No. PCT/US00/18777 having an international filing date of Jul. 10, 2000, now pending. The research for the present invention was supported in part by grants from the Multiple Sclerosis Society of Canada and the Canadian Myelin Research Initiative. The present invention is concerned generally with glial cell components of the central nervous system; and is particularly directed to in-vitro isolation of embryonic human microglia ("HM") cells and establishment of immortalized human microglia ("HMO6") cells and cell lines which are identifiable, stable, functionally active, and in continuous proliferation in-vitro. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

Patents 69

•

Novel analogs of choline for neuroprotection and cognitive enhancement in neurodegenerative disorders Inventor(s): Beach, J. Warren; (Hoschton, GA), Buccafusco, Jerry J.; (Evans, GA), Jonnala, Rammamohanna R.; (Miami, FL), Terry, Alvin V.; (Martinez, GA) Correspondence: Henry D. Coleman; Coleman Sudol Sapone, P.C.; 714 Colorado Avenue; Bridgeport; CT; 06605-1601; US Patent Application Number: 20030050316 Date filed: July 18, 2002 Abstract: The present invention relates to novel analogs of choline and methods of use or treatment of neurodegenerative disorders and/or conditions such as Parkinson's disease, Huntington disease, Alzheimer's disease and related disorders such as amyotrophic lateral sclerosis, spinal muscular atrophy, Friedrich's ataxia, Pick's disease, Bassen-Kornzweig syndrome, Refsom's disease, retinal degeneration, Cruetzfelt-Jacob syndrome or prion disease (mad cow disease), dementia with Lewy bodies, schizophrenia, paraneoplastic cerebellar degeneration and neurodegenerative conditions caused by stroke. The present compounds are effective to treat any neurological condition where acetylcholine transmission neurons and their target cells are affected. Compounds according to the present invention are effective to alleviate and/or reverse the effects of a neurodegenerative condition, prevent further deterioration and/or enhance cognition and memory in patients suffering from neurodegenerative disorders, especially Alzheimer's disease. Excerpt(s): This application claims from provisional application serial number 60/306,585, filed Jul. 19, 2001. The present invention relates to novel analogs of choline and methods of use or treatment of neurodegenerative disorders such as Parkinson's disease, Huntington disease, Alzheimer's disease and related disorders such as amyotrophic lateral sclerosis, spinal muscular atrophy, Friedrich's ataxia, Pick's disease, Bassen-Kornzweig syndrome, Refsom's disease, retinal degeneration, Cruetzfelt-Jacob syndrome or prion disease (mad cow disease), dementia with Lewy bodies, schizophrenia, paraneoplastic cerebellar degeneration and neurodegenerative conditions caused by stroke. The present compounds are effective to treat any neurological condition where acetylcholine transmission neurons and their target cells are affected. Compounds according to the present invention are effective to alleviate and/or reverse the effects of a neurodegenerative condition, prevent further deterioration and/or enhance cognition and memory in patients suffering from neurodegenerative disorders, especially Alzheimer's disease. As the population ages, the frequency with which patients are diagnosed with neurodegenerative diseases, especially those which affect mental faculties such as Alzheimer's, is growing dramatically. The number of individuals having Alzheimer's disease is growing exponentially and it is estimated that today there may be as many as 24 million individuals worldwide afflicted with this condition. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

70

•

Huntington Disease

Triazole derivatives Inventor(s): Arlt, Michael; (Jugenheim, DE), Greiner, Hartmut; (Weiterstadt, DE), Hamaguchi, Wataru; (Tsukuba-shi, JP), Kimizuka, Tetsuya; (Itabashi-ku, JP), Kohara, Atsuyuki; (Tsukuba-shi, JP), Maeno, Kyoichi; (Tsukuba-shi, JP), Miyata, Junji; (Tsukubashi, JP), Morita, Takuma; (Tsukuba-shi, JP), Shimada, Itsuro; (Tsukuba-shi, JP), Sugane, Takashi; (Tsukuba-shi, JP), Suzuki, Takeshi; (Tsukuba-shi, JP), Tobe, Takahiko; (Tsukuba-shi, JP) Correspondence: Sughrue Mion, Pllc; 2100 Pennsylvania Avenue, N.W.; Washington; DC; 20037; US Patent Application Number: 20030216385 Date filed: November 18, 2002 Abstract: The invention relates to a triazole derivative with an activity inhibiting glycine transporter and for use as a pharmaceutical drug, and a novel triazole derivative. The inventive triazole derivative has an excellent activity inhibiting glycine transporter and is useful as a therapeutic agent of dementia, schizophrenia, cognitive disorders, or cognitive disorders involved in various diseases such as Alzheimer disease, Parkinson's disease, or Huntington disease or the like, or spasm involved in diseases such as nerve degenerative diseases and cerebrovascular disorders, or the like. Particularly, the pharmaceutical drug is useful for the amelioration of learning disability of dementia and the like. Excerpt(s): The present invention relates to the pharmaceutical composition conprising triazole derivative as an effective ingredient, which is useful as an inhibitor of the activity of glycine transporter, and a novel trizole derivative with an action as an inhibitor of the activity of glycine transporter. Glycine is known as an excitatory and inhibitory neurotransmitter in the central and peripheral nervous systems. These functions work via two different types of receptors, in which different types of glycine transporter are independently involved. The function as a inhibitory neurotransmitter works via the strychnine-sensitive glycine receptor present mainly in spinal cord and brain stem. Alternatively, the function as an excitatory neurotransmitter works via Nmethyl-D-aspartic acid (NMDA) receptor known as a subtype of glutamate receptors. Glycine is known as a coagonist for the NMDA receptor (Johnson J. W. and Asher P., Glycine potentiates the NMDA response in clutured mouse brain neurons, Nature, 325, 529-531, (1987)). The NMDA receptor is widely distributed in brain, particularly in cerebral cortex and hippocampus. Neurotransmitter transporter plays a significant role in the control of the concentration of neurotransmitter in the synaptic cleft, by incorporating the neurotransmitter inside the cells. Additionally, it is considered that neurotransmitter transporter makes a contribution to the recycling of neurotransmitter, by incorporating the neurotransmitter into the presynapse terminus. It is considered that the control of the functions of neurotransmitter transporter is useful for therapeutically treating various diseased conditions due to abnormalities in nerve functions, through the control of the concentration of neurotransmitter in the synaptic cleft. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

Patents 71

Keeping Current In order to stay informed about patents and patent applications dealing with huntington disease, you can access the U.S. Patent Office archive via the Internet at the following Web address: http://www.uspto.gov/patft/index.html. You will see two broad options: (1) Issued Patent, and (2) Published Applications. To see a list of issued patents, perform the following steps: Under “Issued Patents,” click “Quick Search.” Then, type “huntington disease” (or synonyms) into the “Term 1” box. After clicking on the search button, scroll down to see the various patents which have been granted to date on huntington disease. You can also use this procedure to view pending patent applications concerning huntington disease. Simply go back to http://www.uspto.gov/patft/index.html. Select “Quick Search” under “Published Applications.” Then proceed with the steps listed above.

73

CHAPTER 5. BOOKS ON HUNTINGTON DISEASE Overview This chapter provides bibliographic book references relating to huntington disease. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on huntington disease include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Book Summaries: Federal Agencies The Combined Health Information Database collects various book abstracts from a variety of healthcare institutions and federal agencies. To access these summaries, go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. You will need to use the “Detailed Search” option. To find book summaries, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer. For the format option, select “Monograph/Book.” Now type “huntington disease” (or synonyms) into the “For these words:” box. You should check back periodically with this database which is updated every three months. The following is a typical result when searching for books on huntington disease: •

Augmentative and Alternative Communication for Adults with Acquired Neurologic Disorders Source: Baltimore, MD: Paul H. Brookes Publishing Co. 2000. 425 p. Contact: Available from Paul H. Brookes Publishing Co. P.O. Box 10624, Baltimore, MD 21285. (800) 638-3775. Fax (410) 337-8539. Website: www.brookespublishing.com. PRICE: $42.00 plus shipping and handling. ISBN: 1557664730. Summary: The loss of speech in adulthood due to acquired neurologic disorders causes a person to confront enormous life changes. In this text, speech language professionals, physicians, therapists, service providers, and family members explore the challenges these adults face during their transition, whether gradual or immediate, from speaking to using augmentative and alternative communication (AAC). The chapters of part one focus on issues related to all adults with severe communications disorders caused by

74

Huntington Disease

acquired neurogenic and neuromuscular disabilities. Topics include meaningful communication roles, AAC message management, decision making in AAC intervention, integrating AAC strategies with natural speech in adults, acceptance of AAC by adults with acquired disorders, and rebuilding communicative competence and self determination. The chapters in part two cover issues that pertain to people with specific neurologic and neuromuscular conditions. Topics include AAC for individuals with amyotrophic lateral sclerosis (ALS), AAC for Huntington disease and Parkinson's disease, AAC and traumatic brain injury (the influence of cognitive factors on system design and use), proactive management of primary progressive aphasia, the cognitive and linguistic considerations of AAC and aphasia, and AAC and dementia. Each chapter offers extensive references and the volume concludes with a subject index.

Chapters on Huntington Disease In order to find chapters that specifically relate to huntington disease, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and huntington disease using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “huntington disease” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on huntington disease: •

AAC for Huntington Disease and Parkinson's Disease: Planning for Change Source: in Beukelman, D.R.; Yorkston, K.M.; Reichle, J., eds. Augmentative and Alternative Communication for Adults with Acquired Neurologic Disorders. Baltimore, MD: Paul H. Brookes Publishing Co. 2000. p. 233-270. Contact: Available from Paul H. Brookes Publishing Co. P.O. Box 10624, Baltimore, MD 21285. (800) 638-3775. Fax (410) 337-8539. Website: www.brookespublishing.com. PRICE: $42.00 plus shipping and handling. ISBN: 1557664730. Summary: The loss of speech in adulthood due to acquired neurologic disorders causes a person to confront enormous life changes. This chapter on the use of augmentative and alternative communication (AAC) strategies for people with Huntington disease or Parkinson's disease is from a textbook that explores the challenges these adults face during their transition, whether gradual or immediate, from speaking to using AAC. This chapter focuses on movement disorders and their impact on communication; the daily experiences of people with these diseases and how the diseases can change their lives, their families' lives, and friends in their personal and community networks; and the use of AAC intervention at various stages of these diseases. Huntington disease is characterized by progressive motor disturbances, cognitive impairments, and psychological changes; these manifestations significantly affect the person's ability to communicate. Parkinson's disease is a slowly progressive movement disorder is characterized by an inability to execute learned motor movements; symptoms include resting tremor, rigidity, and slowness of movement. Communication disorders in Parkinson's are common, often beginning with a decrease in facial expression or nonverbal gesture, at time progressing to decrease in vocal loudness, and later progressing to severe dysarthria characterized by changes in speaking rate, articulatory

Books

75

precision, and speech intelligibility. The authors conclude the chapter by offering models or frameworks for patient care delivery for these people. 105 references.

77

CHAPTER 6. PERIODICALS AND NEWS ON HUNTINGTON DISEASE Overview In this chapter, we suggest a number of news sources and present various periodicals that cover huntington disease.

News Services and Press Releases One of the simplest ways of tracking press releases on huntington disease is to search the news wires. In the following sample of sources, we will briefly describe how to access each service. These services only post recent news intended for public viewing. PR Newswire To access the PR Newswire archive, simply go to http://www.prnewswire.com/. Select your country. Type “huntington disease” (or synonyms) into the search box. You will automatically receive information on relevant news releases posted within the last 30 days. The search results are shown by order of relevance. Reuters Health The Reuters’ Medical News and Health eLine databases can be very useful in exploring news archives relating to huntington disease. While some of the listed articles are free to view, others are available for purchase for a nominal fee. To access this archive, go to http://www.reutershealth.com/en/index.html and search by “huntington disease” (or synonyms). The following was recently listed in this archive for huntington disease: •

Simple sugar curbs Huntington disease, in mice Source: Reuters Health eLine Date: January 19, 2004

78

Huntington Disease

•

Disaccharide curbs Huntington disease in mice Source: Reuters Industry Breifing Date: January 19, 2004

•

Gene mutation leads to caspase-mediated neuronal death in Huntington disease Source: Reuters Medical News Date: January 14, 2002

•

Huntington disease finding challenges toxic peptide theory Source: Reuters Medical News Date: October 15, 2001

•

Lack of decline in mortality of Huntington disease patients reflects lack of cure Source: Reuters Medical News Date: November 11, 1999

•

Brain Enzyme May Play Crucial Role In Huntington Disease Source: Reuters Medical News Date: March 04, 1996 The NIH

Within MEDLINEplus, the NIH has made an agreement with the New York Times Syndicate, the AP News Service, and Reuters to deliver news that can be browsed by the public. Search news releases at http://www.nlm.nih.gov/medlineplus/alphanews_a.html. MEDLINEplus allows you to browse across an alphabetical index. Or you can search by date at the following Web page: http://www.nlm.nih.gov/medlineplus/newsbydate.html. Often, news items are indexed by MEDLINEplus within its search engine. Business Wire Business Wire is similar to PR Newswire. To access this archive, simply go to http://www.businesswire.com/. You can scan the news by industry category or company name. Market Wire Market Wire is more focused on technology than the other wires. To browse the latest press releases by topic, such as alternative medicine, biotechnology, fitness, healthcare, legal, nutrition, and pharmaceuticals, access Market Wire’s Medical/Health channel at http://www.marketwire.com/mw/release_index?channel=MedicalHealth. Or simply go to Market Wire’s home page at http://www.marketwire.com/mw/home, type “huntington disease” (or synonyms) into the search box, and click on “Search News.” As this service is technology oriented, you may wish to use it when searching for press releases covering diagnostic procedures or tests. Search Engines Medical news is also available in the news sections of commercial Internet search engines. See the health news page at Yahoo (http://dir.yahoo.com/Health/News_and_Media/), or

Periodicals and News

79

you can use this Web site’s general news search page at http://news.yahoo.com/. Type in “huntington disease” (or synonyms). If you know the name of a company that is relevant to huntington disease, you can go to any stock trading Web site (such as http://www.etrade.com/) and search for the company name there. News items across various news sources are reported on indicated hyperlinks. Google offers a similar service at http://news.google.com/. BBC Covering news from a more European perspective, the British Broadcasting Corporation (BBC) allows the public free access to their news archive located at http://www.bbc.co.uk/. Search by “huntington disease” (or synonyms).

Academic Periodicals covering Huntington Disease Numerous periodicals are currently indexed within the National Library of Medicine’s PubMed database that are known to publish articles relating to huntington disease. In addition to these sources, you can search for articles covering huntington disease that have been published by any of the periodicals listed in previous chapters. To find the latest studies published, go to http://www.ncbi.nlm.nih.gov/pubmed, type the name of the periodical into the search box, and click “Go.” If you want complete details about the historical contents of a journal, you can also visit the following Web site: http://www.ncbi.nlm.nih.gov/entrez/jrbrowser.cgi. Here, type in the name of the journal or its abbreviation, and you will receive an index of published articles. At http://locatorplus.gov/, you can retrieve more indexing information on medical periodicals (e.g. the name of the publisher). Select the button “Search LOCATORplus.” Then type in the name of the journal and select the advanced search option “Journal Title Search.”

81

APPENDICES

83

APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute10: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

10

These publications are typically written by one or more of the various NIH Institutes.

84

Huntington Disease

•

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

•

National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

•

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

•

National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

•

National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

•

National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

•

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

•

National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

•

National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

•

National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

•

National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

•

National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

•

National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

•

Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

•

National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

•

National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

•

Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

Physician Resources

85

NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.11 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:12 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

•

Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

11

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 12 See http://www.nlm.nih.gov/databases/databases.html.

86

Huntington Disease

•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway13 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.14 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “huntington disease” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 5460 152 689 6 97 6404

HSTAT15 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.16 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.17 Simply search by “huntington disease” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

13

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

14

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 15 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 16 17

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

Physician Resources

87

Coffee Break: Tutorials for Biologists18 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.19 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.20 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Huntington Disease In the following section, we will discuss databases and references which relate to the Genome Project and huntington disease. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).21 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information. 18 Adapted 19

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 20 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 21 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

88

Huntington Disease

To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “huntington disease” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for huntington disease: •

Huntington Disease Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143100

•

Huntington Disease-like 1 Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603218

•

Huntington Disease-like 2 Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606438

•

Huntington Disease-like 3 Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604802 Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: •

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

•

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

•

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

•

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

Physician Resources

89

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html

•

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

•

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html Entrez

Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: •

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

•

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

•

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

•

Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

•

OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

•

PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

•

ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

•

PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

90

Huntington Disease

•

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

•

Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “huntington disease” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database22 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database23 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “huntington disease” (or synonyms) into the search

22

Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 23 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

Physician Resources

91

box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

93

APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on huntington disease can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internetbased services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to huntington disease. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to huntington disease. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “huntington disease”:

94

Huntington Disease

Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Genetic Testing/Counseling http://www.nlm.nih.gov/medlineplus/genetictestingcounseling.html Huntington's Disease http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html Parkinson's Disease http://www.nlm.nih.gov/medlineplus/parkinsonsdisease.html You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The National Guideline Clearinghouse™ The National Guideline Clearinghouse™ offers hundreds of evidence-based clinical practice guidelines published in the United States and other countries. You can search this site located at http://www.guideline.gov/ by using the keyword “huntington disease” (or synonyms). The following was recently posted: •

ACR Appropriateness Criteria for neurodegenerative disorders Source: American College of Radiology - Medical Specialty Society; 1999; 9 pages http://www.guideline.gov/summary/summary.aspx?doc_id=2452&nbr=1678&a mp;string=Huntington+AND+disease

•

Dementia Source: American Health Care Association - Professional Association; 1998 (reviewed 2003); 32 pages http://www.guideline.gov/summary/summary.aspx?doc_id=1805&nbr=1031&a mp;string=Huntington+AND+disease

•

Identification, referral, and support of elders with genetic conditions Source: University of Iowa Gerontological Nursing Interventions Research Center, Research Dissemination Core - Academic Institution; 1999; 31 pages http://www.guideline.gov/summary/summary.aspx?doc_id=1968&nbr=1194&a mp;string=Huntington+AND+disease

Patient Resources

•

95

VHA/DOD clinical practice guideline for the management of major depressive disorder in adults Source: Department of Defense - Federal Government Agency [U.S.]; 1997 (updated 2000); Various pagings http://www.guideline.gov/summary/summary.aspx?doc_id=2585&nbr=1811&a mp;string=Huntington+AND+disease The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to huntington disease. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMD®Health: http://my.webmd.com/health_topics

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to huntington disease. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with huntington disease. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about huntington disease. For more

96

Huntington Disease

information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “huntington disease” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “huntington disease”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “huntington disease” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “huntington disease” (or a synonym) into the search box, and click “Submit Query.”

97

APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.24

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

24

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

98

Huntington Disease

libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)25: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

•

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

•

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

25

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

Finding Medical Libraries 99 •

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

•

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

•

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

100

Huntington Disease

•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

•

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

•

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

•

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

•

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

•

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

•

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

•

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

•

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

•

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

•

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

•

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

Finding Medical Libraries 101 •

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

•

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

•

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

•

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

•

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

•

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

•

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

•

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

•

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

•

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

•

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

102

Huntington Disease

•

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

•

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

•

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

•

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

103

ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

•

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

•

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

•

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

•

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

•

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

•

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a).

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

•

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

•

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

•

Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

105

HUNTINGTON DISEASE DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Acetylcholine: A neurotransmitter. Acetylcholine in vertebrates is the major transmitter at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system. It is generally not used as an administered drug because it is broken down very rapidly by cholinesterases, but it is useful in some ophthalmological applications. [NIH] Adaptability: Ability to develop some form of tolerance to conditions extremely different from those under which a living organism evolved. [NIH] Adrenergic: Activated by, characteristic of, or secreting epinephrine or substances with similar activity; the term is applied to those nerve fibres that liberate norepinephrine at a synapse when a nerve impulse passes, i.e., the sympathetic fibres. [EU] Adrenergic beta-Antagonists: Drugs that bind to but do not activate beta-adrenergic receptors thereby blocking the actions of beta-adrenergic agonists. Adrenergic betaantagonists are used for treatment of hypertension, cardiac arrythmias, angina pectoris, glaucoma, migraine headaches, and anxiety. [NIH] Afferent: Concerned with the transmission of neural impulse toward the central part of the nervous system. [NIH] Affinity: 1. Inherent likeness or relationship. 2. A special attraction for a specific element, organ, or structure. 3. Chemical affinity; the force that binds atoms in molecules; the tendency of substances to combine by chemical reaction. 4. The strength of noncovalent chemical binding between two substances as measured by the dissociation constant of the complex. 5. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K litres mole -1), which, owing to the heterogeneity of affinities in a population of antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant). 6. The reciprocal of the dissociation constant. [EU] Age of Onset: The age or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual. [NIH] Agonist: In anatomy, a prime mover. In pharmacology, a drug that has affinity for and stimulates physiologic activity at cell receptors normally stimulated by naturally occurring substances. [EU] Akathisia: 1. A condition of motor restlessness in which there is a feeling of muscular quivering, an urge to move about constantly, and an inability to sit still, a common extrapyramidal side effect of neuroleptic drugs. 2. An inability to sit down because of intense anxiety at the thought of doing so. [EU] Alfalfa: A deep-rooted European leguminous plant (Medicago sativa) widely grown for hay and forage. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaloid: A member of a large group of chemicals that are made by plants and have

106

Huntington Disease

nitrogen in them. Some alkaloids have been shown to work against cancer. [NIH] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amantadine: An antiviral that is used in the prophylactic or symptomatic treatment of Influenza A. It is also used as an antiparkinsonian agent, to treat extrapyramidal reactions, and for postherpetic neuralgia. The mechanisms of its effects in movement disorders are not well understood but probably reflect an increase in synthesis and release of dopamine, with perhaps some inhibition of dopamine uptake. [NIH] Ambulatory Care: Health care services provided to patients on an ambulatory basis, rather than by admission to a hospital or other health care facility. The services may be a part of a hospital, augmenting its inpatient services, or may be provided at a free-standing facility. [NIH]

Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Aminooxyacetic Acid: A compound that inhibits aminobutyrate aminotransferase activity in vivo, thereby raising the level of gamma-aminobutyric acid in tissues. [NIH] Aminopropionitrile: 3-Aminopropanenitrile. Reagent used as an intermediate in the manufacture of beta-alanine and pantothenic acid. [NIH] Ammonia: A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. [NIH] Amplification: The production of additional copies of a chromosomal DNA sequence, found as either intrachromosomal or extrachromosomal DNA. [NIH] Amygdala: Almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. [NIH]

Analeptic: A drug which acts as a restorative, such as caffeine, amphetamine, pentylenetetrazol, etc. [EU] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Angiotensin-Converting Enzyme Inhibitors: A class of drugs whose main indications are the treatment of hypertension and heart failure. They exert their hemodynamic effect mainly by inhibiting the renin-angiotensin system. They also modulate sympathetic nervous system activity and increase prostaglandin synthesis. They cause mainly vasodilation and mild

Dictionary 107

natriuresis without affecting heart rate and contractility. [NIH] Animal model: An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and to test new treatments before they are given to humans. Animals with transplanted human cancers or other tissues are called xenograft models. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anoxia: Clinical manifestation of respiratory distress consisting of a relatively complete absence of oxygen. [NIH] Anterior Cerebral Artery: Artery formed by the bifurcation of the internal carotid artery. Branches of the anterior cerebral artery supply the caudate nucleus, internal capsule, putamen, septal nuclei, gyrus cinguli, and surfaces of the frontal lobe and parietal lobe. [NIH] Antibiotics: Substances produced by microorganisms that can inhibit or suppress the growth of other microorganisms. [NIH] Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Anticoagulant: A drug that helps prevent blood clots from forming. Also called a blood thinner. [NIH] Anticonvulsant: An agent that prevents or relieves convulsions. [EU] Antiemetic: An agent that prevents or alleviates nausea and vomiting. Also antinauseant. [EU]

Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Antihypertensive: An agent that reduces high blood pressure. [EU] Antihypertensive Agents: Drugs used in the treatment of acute or chronic hypertension regardless of pharmacological mechanism. Among the antihypertensive agents are diuretics (especially diuretics, thiazide), adrenergic beta-antagonists, adrenergic alpha-antagonists, angiotensin-converting enzyme inhibitors, calcium channel blockers, ganglionic blockers, and vasodilator agents. [NIH] Anti-infective: An agent that so acts. [EU] Anti-inflammatory: Having to do with reducing inflammation. [NIH] Anti-Inflammatory Agents: Substances that reduce or suppress inflammation. [NIH] Antipsychotic: Effective in the treatment of psychosis. Antipsychotic drugs (called also neuroleptic drugs and major tranquilizers) are a chemically diverse (including phenothiazines, thioxanthenes, butyrophenones, dibenzoxazepines, dibenzodiazepines, and diphenylbutylpiperidines) but pharmacologically similar class of drugs used to treat

108

Huntington Disease

schizophrenic, paranoid, schizoaffective, and other psychotic disorders; acute delirium and dementia, and manic episodes (during induction of lithium therapy); to control the movement disorders associated with Huntington's chorea, Gilles de la Tourette's syndrome, and ballismus; and to treat intractable hiccups and severe nausea and vomiting. Antipsychotic agents bind to dopamine, histamine, muscarinic cholinergic, a-adrenergic, and serotonin receptors. Blockade of dopaminergic transmission in various areas is thought to be responsible for their major effects : antipsychotic action by blockade in the mesolimbic and mesocortical areas; extrapyramidal side effects (dystonia, akathisia, parkinsonism, and tardive dyskinesia) by blockade in the basal ganglia; and antiemetic effects by blockade in the chemoreceptor trigger zone of the medulla. Sedation and autonomic side effects (orthostatic hypotension, blurred vision, dry mouth, nasal congestion and constipation) are caused by blockade of histamine, cholinergic, and adrenergic receptors. [EU] Antiviral: Destroying viruses or suppressing their replication. [EU] Anxiety: Persistent feeling of dread, apprehension, and impending disaster. [NIH] Aphasia: A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia. [NIH] Apoptosis: One of the two mechanisms by which cell death occurs (the other being the pathological process of necrosis). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA (DNA fragmentation) at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. [NIH] Aqueous: Having to do with water. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Arteriovenous: Both arterial and venous; pertaining to or affecting an artery and a vein. [EU] Articulation: The relationship of two bodies by means of a moveable joint. [NIH] Aspartate: A synthetic amino acid. [NIH] Aspartic: The naturally occurring substance is L-aspartic acid. One of the acidic-amino-acids is obtained by the hydrolysis of proteins. [NIH] Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter. [NIH] Asphyxia: A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life. [NIH] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Asymptomatic: Having no signs or symptoms of disease. [NIH] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from

Dictionary 109

posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Auditory: Pertaining to the sense of hearing. [EU] Autoimmune disease: A condition in which the body recognizes its own tissues as foreign and directs an immune response against them. [NIH] Autonomic: Self-controlling; functionally independent. [EU] Autonomic Nervous System: The enteric, parasympathetic, and sympathetic nervous systems taken together. Generally speaking, the autonomic nervous system regulates the internal environment during both peaceful activity and physical or emotional stress. Autonomic activity is controlled and integrated by the central nervous system, especially the hypothalamus and the solitary nucleus, which receive information relayed from visceral afferents; these and related central and sensory structures are sometimes (but not here) considered to be part of the autonomic nervous system itself. [NIH] Autoradiography: A process in which radioactive material within an object produces an image when it is in close proximity to a radiation sensitive emulsion. [NIH] Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

Bilateral: Affecting both the right and left side of body. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biomarkers: Substances sometimes found in an increased amount in the blood, other body fluids, or tissues and that may suggest the presence of some types of cancer. Biomarkers include CA 125 (ovarian cancer), CA 15-3 (breast cancer), CEA (ovarian, lung, breast, pancreas, and GI tract cancers), and PSA (prostate cancer). Also called tumor markers. [NIH] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH]

110

Huntington Disease

Bladder: The organ that stores urine. [NIH] Blood pressure: The pressure of blood against the walls of a blood vessel or heart chamber. Unless there is reference to another location, such as the pulmonary artery or one of the heart chambers, it refers to the pressure in the systemic arteries, as measured, for example, in the forearm. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Body Fluids: Liquid components of living organisms. [NIH] Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion. There is both a small and a large bowel. Also called the intestine. [NIH] Bowel Movement: Body wastes passed through the rectum and anus. [NIH] Brain Ischemia: Localized reduction of blood flow to brain tissue due to arterial obtruction or systemic hypoperfusion. This frequently occurs in conjuction with brain hypoxia. Prolonged ischemia is associated with brain infarction. [NIH] Brain Stem: The part of the brain that connects the cerebral hemispheres with the spinal cord. It consists of the mesencephalon, pons, and medulla oblongata. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Bulimia: Episodic binge eating. The episodes may be associated with the fear of not being able to stop eating, depressed mood, or self-deprecating thoughts (binge-eating disorder) and may frequently be terminated by self-induced vomiting (bulimia nervosa). [NIH] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH] Calcium channel blocker: A drug used to relax the blood vessel and heart muscle, causing pressure inside blood vessels to drop. It also can regulate heart rhythm. [NIH] Calcium Channel Blockers: A class of drugs that act by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools. Since they are inducers of vascular and other smooth muscle relaxation, they are used in the drug therapy of hypertension and cerebrovascular spasms, as myocardial protective agents, and in the relaxation of uterine spasms. [NIH] Carbamazepine: An anticonvulsant used to control grand mal and psychomotor or focal seizures. Its mode of action is not fully understood, but some of its actions resemble those of phenytoin; although there is little chemical resemblance between the two compounds, their three-dimensional structure is similar. [NIH] Carcinogenic: Producing carcinoma. [EU] Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] Cardiac: Having to do with the heart. [NIH] Cardiac arrest: A sudden stop of heart function. [NIH] Carotene: The general name for a group of pigments found in green, yellow, and leafy vegetables, and yellow fruits. The pigments are fat-soluble, unsaturated aliphatic

Dictionary 111

hydrocarbons functioning as provitamins and are converted to vitamin A through enzymatic processes in the intestinal wall. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Caspase: Enzyme released by the cell at a crucial stage in apoptosis in order to shred all cellular proteins. [NIH] Catecholamine: A group of chemical substances manufactured by the adrenal medulla and secreted during physiological stress. [NIH] Cause of Death: Factors which produce cessation of all vital bodily functions. They can be analyzed from an epidemiologic viewpoint. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Death: The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability. [NIH] Cell Division: The fission of a cell. [NIH] Cell membrane: Cell membrane = plasma membrane. The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees. [EU] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Central Nervous System Diseases: Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. [NIH] Central Nervous System Infections: Pathogenic infections of the brain, spinal cord, and meninges. DNA virus infections; RNA virus infections; bacterial infections; mycoplasma infections; Spirochaetales infections; fungal infections; protozoan infections; helminthiasis; and prion diseases may involve the central nervous system as a primary or secondary process. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. [NIH] Cerebellum: Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral hemispheres: The two halves of the cerebrum, the part of the brain that controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. The right hemisphere controls muscle movement on the left side of the body, and the left hemisphere controls muscle movement on the right side of the body. [NIH] Cerebral Infarction: The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., infarction, anterior cerebral artery), and etiology (e.g., embolic infarction). [NIH]

Cerebrovascular: Pertaining to the blood vessels of the cerebrum, or brain. [EU]

112

Huntington Disease

Cerebrovascular Disorders: A broad category of disorders characterized by impairment of blood flow in the arteries and veins which supply the brain. These include cerebral infarction; brain ischemia; hypoxia, brain; intracranial embolism and thrombosis; intracranial arteriovenous malformations; and vasculitis, central nervous system. In common usage, the term cerebrovascular disorders is not limited to conditions that affect the cerebrum, but refers to vascular disorders of the entire brain including the diencephalon; brain stem; and cerebellum. [NIH] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Character: In current usage, approximately equivalent to personality. The sum of the relatively fixed personality traits and habitual modes of response of an individual. [NIH] Chemokines: Class of pro-inflammatory cytokines that have the ability to attract and activate leukocytes. They can be divided into at least three structural branches: C (chemokines, C), CC (chemokines, CC), and CXC (chemokines, CXC), according to variations in a shared cysteine motif. [NIH] Chemoreceptor: A receptor adapted for excitation by chemical substances, e.g., olfactory and gustatory receptors, or a sense organ, as the carotid body or the aortic (supracardial) bodies, which is sensitive to chemical changes in the blood stream, especially reduced oxygen content, and reflexly increases both respiration and blood pressure. [EU] Choline: A basic constituent of lecithin that is found in many plants and animal organs. It is important as a precursor of acetylcholine, as a methyl donor in various metabolic processes, and in lipid metabolism. [NIH] Cholinergic: Resembling acetylcholine in pharmacological action; stimulated by or releasing acetylcholine or a related compound. [EU] Chorea: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as choreatic disorders. Chorea is also a frequent manifestation of basal ganglia diseases. [NIH] Choreatic Disorders: Acquired and hereditary conditions which feature chorea as a primary manifestation of the disease process. [NIH] Chorioretinitis: Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body. [NIH] Choroid: The thin, highly vascular membrane covering most of the posterior of the eye between the retina and sclera. [NIH] Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chromosome Fragility: Susceptibility of chromosomes to breakage and translocation or other aberrations. Chromosome fragile sites are regions that show up in karyotypes as a gap (uncondensed stretch) on the chromatid arm. They are associated with chromosome break sites and other aberrations. A fragile site on the X chromosome is associated with fragile X syndrome. Fragile sites are designated by the letters "FRA" followed by the designation for

Dictionary 113

the specific chromosome and a letter which refers to the different fragile sites on a chromosome (e.g. FRAXA). [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] CIS: Cancer Information Service. The CIS is the National Cancer Institute's link to the public, interpreting and explaining research findings in a clear and understandable manner, and providing personalized responses to specific questions about cancer. Access the CIS by calling 1-800-4-CANCER, or by using the Web site at http://cis.nci.nih.gov. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Cognition: Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. [NIH] Colchicine: A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (periodic disease). [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Colloidal: Of the nature of a colloid. [EU] Colorectal: Having to do with the colon or the rectum. [NIH] Colorectal Cancer: Cancer that occurs in the colon (large intestine) or the rectum (the end of the large intestine). A number of digestive diseases may increase a person's risk of colorectal cancer, including polyposis and Zollinger-Ellison Syndrome. [NIH] Community Networks: Organizations and individuals cooperating together toward a common goal at the local or grassroots level. [NIH] Compress: A plug used to occludate an orifice in the control of bleeding, or to mop up secretions; an absorbent pad. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Computed tomography: CT scan. A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray

114

Huntington Disease

machine. Also called computerized tomography and computerized axial tomography (CAT) scan. [NIH] Computerized axial tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called CAT scan, computed tomography (CT scan), or computerized tomography. [NIH] Computerized tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized axial tomography (CAT) scan and computed tomography (CT scan). [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Conduction: The transfer of sound waves, heat, nervous impulses, or electricity. [EU] Cone: One of the special retinal receptor elements which are presumed to be primarily concerned with perception of light and color stimuli when the eye is adapted to light. [NIH] Congestion: Excessive or abnormal accumulation of blood in a part. [EU] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Consciousness: Sense of awareness of self and of the environment. [NIH] Consensus Sequence: A theoretical representative nucleotide or amino acid sequence in which each nucleotide or amino acid is the one which occurs most frequently at that site in the different sequences which occur in nature. The phrase also refers to an actual sequence which approximates the theoretical consensus. A known conserved sequence set is represented by a consensus sequence. Commonly observed supersecondary protein structures (amino acid motifs) are often formed by conserved sequences. [NIH] Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a consensus sequence. Amino acid motifs are often composed of conserved sequences. [NIH] Constipation: Infrequent or difficult evacuation of feces. [NIH] Constitutional: 1. Affecting the whole constitution of the body; not local. 2. Pertaining to the constitution. [EU] Constriction: The act of constricting. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Controlled study: An experiment or clinical trial that includes a comparison (control) group. [NIH]

Convulsions: A general term referring to sudden and often violent motor activity of cerebral or brainstem origin. Convulsions may also occur in the absence of an electrical cerebral discharge (e.g., in response to hypotension). [NIH] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a

Dictionary 115

myocardial infarction. [NIH] Corpuscle: A small mass or body; a sensory nerve end bulb; a cell, especially that of the blood or the lymph. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Craniocerebral Trauma: Traumatic injuries involving the cranium and intracranial structures (i.e., brain; cranial nerves; meninges; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage. [NIH] Crossing-over: The exchange of corresponding segments between chromatids of homologous chromosomes during meiosia, forming a chiasma. [NIH] Cyclic: Pertaining to or occurring in a cycle or cycles; the term is applied to chemical compounds that contain a ring of atoms in the nucleus. [EU] Cystamine: A radiation-protective agent that interferes with sulfhydryl enzymes. It may also protect against carbon tetrachloride liver damage. [NIH] Cysteine: A thiol-containing non-essential amino acid that is oxidized to form cystine. [NIH] Cytokines: Non-antibody proteins secreted by inflammatory leukocytes and some nonleukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner. [NIH] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] Cytotoxic: Cell-killing. [NIH] Databases, Bibliographic: Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from factual databases which is used for collections of data and facts apart from bibliographic references to them. [NIH] Death Certificates: Official records of individual deaths including the cause of death certified by a physician, and any other required identifying information. [NIH] Decision Making: The process of making a selective intellectual judgment when presented with several complex alternatives consisting of several variables, and usually defining a course of action or an idea. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Delirium: (DSM III-R) an acute, reversible organic mental disorder characterized by reduced ability to maintain attention to external stimuli and disorganized thinking as manifested by rambling, irrelevant, or incoherent speech; there are also a reduced level of consciousness, sensory misperceptions, disturbance of the sleep-wakefulness cycle and level of psychomotor activity, disorientation to time, place, or person, and memory impairment.

116

Huntington Disease

Delirium may be caused by a large number of conditions resulting in derangement of cerebral metabolism, including systemic infection, poisoning, drug intoxication or withdrawal, seizures or head trauma, and metabolic disturbances such as hypoxia, hypoglycaemia, fluid, electrolyte, or acid-base imbalances, or hepatic or renal failure. Called also acute confusional state and acute brain syndrome. [EU] Delusions: A false belief regarding the self or persons or objects outside the self that persists despite the facts, and is not considered tenable by one's associates. [NIH] Dementia: An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. [NIH] Denaturation: Rupture of the hydrogen bonds by heating a DNA solution and then cooling it rapidly causes the two complementary strands to separate. [NIH] Dendrites: Extensions of the nerve cell body. They are short and branched and receive stimuli from other neurons. [NIH] Dentate Gyrus: Gray matter situated above the gyrus hippocampi. It is composed of three layers. The molecular layer is continuous with the hippocampus in the hippocampal fissure. The granular layer consists of closely arranged spherical or oval neurons, called granule cells, whose axons pass through the polymorphic layer ending on the dendrites of pyramidal cells in the hippocampus. [NIH] Depolarization: The process or act of neutralizing polarity. In neurophysiology, the reversal of the resting potential in excitable cell membranes when stimulated, i.e., the tendency of the cell membrane potential to become positive with respect to the potential outside the cell. [EU] Depressive Disorder: An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diencephalon: The paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus, and subthalamus are derived. [NIH] Digestive system: The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. [NIH] Dilatation: The act of dilating. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis. [NIH] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Diuretics, Thiazide: Diuretics characterized as analogs of 1,2,4-benzothiadiazine-1,1dioxide. All have a common mechanism of action and differ primarily in the dose required to produce a given effect. They act directly on the kidney to increase the excretion of sodium chloride and water and also increase excretion of potassium ions. [NIH]

Dictionary 117

Dopamine: An endogenous catecholamine and prominent neurotransmitter in several systems of the brain. In the synthesis of catecholamines from tyrosine, it is the immediate precursor to norepinephrine and epinephrine. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of dopaminergic receptor subtypes mediate its action. Dopamine is used pharmacologically for its direct (beta adrenergic agonist) and indirect (adrenergic releasing) sympathomimetic effects including its actions as an inotropic agent and as a renal vasodilator. [NIH] Drug Tolerance: Progressive diminution of the susceptibility of a human or animal to the effects of a drug, resulting from its continued administration. It should be differentiated from drug resistance wherein an organism, disease, or tissue fails to respond to the intended effectiveness of a chemical or drug. It should also be differentiated from maximum tolerated dose and no-observed-adverse-effect level. [NIH] Dwarfism: The condition of being undersized as a result of premature arrest of skeletal growth. It may be caused by insufficient secretion of growth hormone (pituitary dwarfism). [NIH]

Dysarthria: Imperfect articulation of speech due to disturbances of muscular control which result from damage to the central or peripheral nervous system. [EU] Dyskinesia: Impairment of the power of voluntary movement, resulting in fragmentary or incomplete movements. [EU] Dysphoric: A feeling of unpleasantness and discomfort. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystonia: Disordered tonicity of muscle. [EU] Dystrophic: Pertaining to toxic habitats low in nutrients. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Edema: Excessive amount of watery fluid accumulated in the intercellular spaces, most commonly present in subcutaneous tissue. [NIH] Effector: It is often an enzyme that converts an inactive precursor molecule into an active second messenger. [NIH] Effector cell: A cell that performs a specific function in response to a stimulus; usually used to describe cells in the immune system. [NIH] Electrons: Stable elementary particles having the smallest known negative charge, present in all elements; also called negatrons. Positively charged electrons are called positrons. The numbers, energies and arrangement of electrons around atomic nuclei determine the chemical identities of elements. Beams of electrons are called cathode rays or beta rays, the latter being a high-energy biproduct of nuclear decay. [NIH] Electrophoresis: An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. [NIH]

Electrophysiological: Pertaining to electrophysiology, that is a branch of physiology that is concerned with the electric phenomena associated with living bodies and involved in their functional activity. [EU] Elementary Particles: Individual components of atoms, usually subatomic; subnuclear particles are usually detected only when the atomic nucleus decays and then only transiently, as most of them are unstable, often yielding pure energy without substance, i.e., radiation. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid

118

Huntington Disease

morphological changes and the differentiation of basic structures. [NIH] Emulsion: A preparation of one liquid distributed in small globules throughout the body of a second liquid. The dispersed liquid is the discontinuous phase, and the dispersion medium is the continuous phase. When oil is the dispersed liquid and an aqueous solution is the continuous phase, it is known as an oil-in-water emulsion, whereas when water or aqueous solution is the dispersed phase and oil or oleaginous substance is the continuous phase, it is known as a water-in-oil emulsion. Pharmaceutical emulsions for which official standards have been promulgated include cod liver oil emulsion, cod liver oil emulsion with malt, liquid petrolatum emulsion, and phenolphthalein in liquid petrolatum emulsion. [EU] Endemic: Present or usually prevalent in a population or geographical area at all times; said of a disease or agent. Called also endemial. [EU] Endonucleases: Enzymes that catalyze the hydrolysis of the internal bonds and thereby the formation of polynucleotides or oligonucleotides from ribo- or deoxyribonucleotide chains. EC 3.1.-. [NIH] Endothelial cell: The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Enhancers: Transcriptional element in the virus genome. [NIH] Entorhinal Cortex: Cortex where the signals are combined with those from other sensory systems. [NIH] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Enzyme Inhibitors: Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. [NIH] Epidemic: Occurring suddenly in numbers clearly in excess of normal expectancy; said especially of infectious diseases but applied also to any disease, injury, or other healthrelated event occurring in such outbreaks. [EU] Epidemiological: Relating to, or involving epidemiology. [EU] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [NIH] Erythrocyte Membrane: The semipermeable outer portion of the red corpuscle. It is known as a 'ghost' after hemolysis. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach.

Dictionary 119

[NIH]

Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Eukaryotic Cells: Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane. [NIH] Excitation: An act of irritation or stimulation or of responding to a stimulus; the addition of energy, as the excitation of a molecule by absorption of photons. [EU] Excitatory: When cortical neurons are excited, their output increases and each new input they receive while they are still excited raises their output markedly. [NIH] Excitatory Amino Acid Agonists: Drugs that bind to and activate excitatory amino acid receptors. [NIH] Excitatory Amino Acids: Endogenous amino acids released by neurons as excitatory neurotransmitters. Glutamic acid is the most common excitatory neurotransmitter in the brain. Aspartic acid has been regarded as an excitatory transmitter for many years, but the extent of its role as a transmitter is unclear. [NIH] Excitotoxicity: Excessive exposure to glutamate or related compounds can kill brain neurons, presumably by overstimulating them. [NIH] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Expiration: The act of breathing out, or expelling air from the lungs. [EU] Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Extrapyramidal: Outside of the pyramidal tracts. [EU] Facial: Of or pertaining to the face. [EU] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Ferritin: An iron-containing protein complex that is formed by a combination of ferric iron with the protein apoferritin. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibroblast Growth Factor: Peptide isolated from the pituitary gland and from the brain. It is a potent mitogen which stimulates growth of a variety of mesodermal cells including chondrocytes, granulosa, and endothelial cells. The peptide may be active in wound healing and animal limb regeneration. [NIH] Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Fissure: Any cleft or groove, normal or otherwise; especially a deep fold in the cerebral cortex which involves the entire thickness of the brain wall. [EU] Frontal Lobe: The anterior part of the cerebral hemisphere. [NIH] Gait: Manner or style of walking. [NIH]

120

Huntington Disease

Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Ganglionic Blockers: Agents having as their major action the interruption of neural transmission at nicotinic receptors on postganglionic autonomic neurons. Because their actions are so broad, including blocking of sympathetic and parasympathetic systems, their therapeutic use has been largely supplanted by more specific drugs. They may still be used in the control of blood pressure in patients with acute dissecting aortic aneurysm and for the induction of hypotension in surgery. [NIH] Gelatin: A product formed from skin, white connective tissue, or bone collagen. It is used as a protein food adjuvant, plasma substitute, hemostatic, suspending agent in pharmaceutical preparations, and in the manufacturing of capsules and suppositories. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [NIH] Gene Order: The sequential location of genes on a chromosome. [NIH] Genetic Counseling: Advising families of the risks involved pertaining to birth defects, in order that they may make an informed decision on current or future pregnancies. [NIH] Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc. [NIH] Genetic testing: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Cells: The reproductive cells in multicellular organisms. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glutamate: Excitatory neurotransmitter of the brain. [NIH] Glutamic Acid: A non-essential amino acid naturally occurring in the L-form. Glutamic acid (glutamate) is the most common excitatory neurotransmitter in the central nervous system. [NIH]

Glutamine: A non-essential amino acid present abundantly throught the body and is involved in many metabolic processes. It is synthesized from glutamic acid and ammonia. It is the principal carrier of nitrogen in the body and is an important energy source for many cells. [NIH]

Dictionary 121

Glycerol: A trihydroxy sugar alcohol that is an intermediate in carbohydrate and lipid metabolism. It is used as a solvent, emollient, pharmaceutical agent, and sweetening agent. [NIH]

Glycerophospholipids: Derivatives of phosphatidic acid in which the hydrophobic regions are composed of two fatty acids and a polar alcohol is joined to the C-3 position of glycerol through a phosphodiester bond. They are named according to their polar head groups, such as phosphatidylcholine and phosphatidylethanolamine. [NIH] Glycine: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [NIH] Glycoprotein: A protein that has sugar molecules attached to it. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Gp120: 120-kD HIV envelope glycoprotein which is involved in the binding of the virus to its membrane receptor, the CD4 molecule, found on the surface of certain cells in the body. [NIH]

Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Growth factors: Substances made by the body that function to regulate cell division and cell survival. Some growth factors are also produced in the laboratory and used in biological therapy. [NIH] Half-Life: The time it takes for a substance (drug, radioactive nuclide, or other) to lose half of its pharmacologic, physiologic, or radiologic activity. [NIH] Headache: Pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions including subarachnoid hemorrhage; craniocerebral trauma; central nervous system infections; intracranial hypertension; and other disorders. In general, recurrent headaches that are not associated with a primary disease process are referred to as headache disorders (e.g., migraine). [NIH] Headache Disorders: Common conditions characterized by persistent or recurrent headaches. Headache syndrome classification systems may be based on etiology (e.g., vascular headache, post-traumatic headaches, etc.), temporal pattern (e.g., cluster headache, paroxysmal hemicrania, etc.), and precipitating factors (e.g., cough headache). [NIH] Hematoma: An extravasation of blood localized in an organ, space, or tissue. [NIH] Heme: The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] Hemolysis: The destruction of erythrocytes by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [NIH]

122

Huntington Disease

Hemorrhagic stroke: A disorder involving bleeding within ischemic brain tissue. Hemorrhagic stroke occurs when blood vessels that are damaged or dead from lack of blood supply (infarcted), located within an area of infarcted brain tissue, rupture and transform an "ischemic" stroke into a hemorrhagic stroke. Ischemia is inadequate tissue oxygenation caused by reduced blood flow; infarction is tissue death resulting from ischemia. Bleeding irritates the brain tissues, causing swelling (cerebral edema). Blood collects into a mass (hematoma). Both swelling and hematoma will compress and displace brain tissue. [NIH] Hepatic: Refers to the liver. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Hippocampus: A curved elevation of gray matter extending the entire length of the floor of the temporal horn of the lateral ventricle (Dorland, 28th ed). The hippocampus, subiculum, and dentate gyrus constitute the hippocampal formation. Sometimes authors include the entorhinal cortex in the hippocampal formation. [NIH] Histamine: 1H-Imidazole-4-ethanamine. A depressor amine derived by enzymatic decarboxylation of histidine. It is a powerful stimulant of gastric secretion, a constrictor of bronchial smooth muscle, a vasodilator, and also a centrally acting neurotransmitter. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hybrid: Cross fertilization between two varieties or, more usually, two species of vines, see also crossing. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydrolysis: The process of cleaving a chemical compound by the addition of a molecule of water. [NIH] Hyperkinesia: Abnormally increased motor function or activity; hyperactivity. [EU] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [NIH] Hypoglycemia: Abnormally low blood sugar [NIH] Hypotension: Abnormally low blood pressure. [NIH] Hypoxia: Reduction of oxygen supply to tissue below physiological levels despite adequate perfusion of the tissue by blood. [EU] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH]

Dictionary 123

Iduronidase: An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immune system: The organs, cells, and molecules responsible for the recognition and disposal of foreign ("non-self") material which enters the body. [NIH] Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Immunofluorescence: A technique for identifying molecules present on the surfaces of cells or in tissues using a highly fluorescent substance coupled to a specific antibody. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] In situ: In the natural or normal place; confined to the site of origin without invasion of neighbouring tissues. [EU] In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Incontinence: Inability to control the flow of urine from the bladder (urinary incontinence) or the escape of stool from the rectum (fecal incontinence). [NIH] Induction: The act or process of inducing or causing to occur, especially the production of a specific morphogenetic effect in the developing embryo through the influence of evocators or organizers, or the production of anaesthesia or unconsciousness by use of appropriate agents. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Ingestion: Taking into the body by mouth [NIH] Initiation: Mutation induced by a chemical reactive substance causing cell changes; being a step in a carcinogenic process. [NIH] Inotropic: Affecting the force or energy of muscular contractions. [EU] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Insulin: A protein hormone secreted by beta cells of the pancreas. Insulin plays a major role in the regulation of glucose metabolism, generally promoting the cellular utilization of

124

Huntington Disease

glucose. It is also an important regulator of protein and lipid metabolism. Insulin is used as a drug to control insulin-dependent diabetes mellitus. [NIH] Insulin-dependent diabetes mellitus: A disease characterized by high levels of blood glucose resulting from defects in insulin secretion, insulin action, or both. Autoimmune, genetic, and environmental factors are involved in the development of type I diabetes. [NIH] Intermittent: Occurring at separated intervals; having periods of cessation of activity. [EU] Intestinal: Having to do with the intestines. [NIH] Intestine: A long, tube-shaped organ in the abdomen that completes the process of digestion. There is both a large intestine and a small intestine. Also called the bowel. [NIH] Intoxication: Poisoning, the state of being poisoned. [EU] Intracellular: Inside a cell. [NIH] Intracranial Embolism: The sudden obstruction of a blood vessel by an embolus. [NIH] Intracranial Embolism and Thrombosis: Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures. [NIH] Involuntary: Reaction occurring without intention or volition. [NIH] Iodine: A nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically. [NIH] Ion Channels: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for channel gating can be a membrane potential, drug, transmitter, cytoplasmic messenger, or a mechanical deformation. Ion channels which are integral parts of ionotropic neurotransmitter receptors are not included. [NIH] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Isoniazid: Antibacterial agent used primarily as a tuberculostatic. It remains the treatment of choice for tuberculosis. [NIH] Kainate: Glutamate receptor. [NIH] Kainic Acid: (2S-(2 alpha,3 beta,4 beta))-2-Carboxy-4-(1-methylethenyl)-3-pyrrolidineacetic acid. Ascaricide obtained from the red alga Digenea simplex. It is a potent excitatory amino acid agonist at some types of excitatory amino acid receptors and has been used to discriminate among receptor types. Like many excitatory amino acid agonists it can cause neurotoxicity and has been used experimentally for that purpose. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called colon. [NIH]

Dictionary 125

Latency: The period of apparent inactivity between the time when a stimulus is presented and the moment a response occurs. [NIH] Lathyrism: A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile, found in the seeds of plants of the genus Lathyrus. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethal: Deadly, fatal. [EU] Leucocyte: All the white cells of the blood and their precursors (myeloid cell series, lymphoid cell series) but commonly used to indicate granulocytes exclusive of lymphocytes. [NIH]

Leukemia: Cancer of blood-forming tissue. [NIH] Leukocytes: White blood cells. These include granular leukocytes (basophils, eosinophils, and neutrophils) as well as non-granular leukocytes (lymphocytes and monocytes). [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Life cycle: The successive stages through which an organism passes from fertilized ovum or spore to the fertilized ovum or spore of the next generation. [NIH] Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] Limbic: Pertaining to a limbus, or margin; forming a border around. [EU] Limbic System: A set of forebrain structures common to all mammals that is defined functionally and anatomically. It is implicated in the higher integration of visceral, olfactory, and somatic information as well as homeostatic responses including fundamental survival behaviors (feeding, mating, emotion). For most authors, it includes the amygdala, epithalamus, gyrus cinguli, hippocampal formation (see hippocampus), hypothalamus, parahippocampal gyrus, septal nuclei, anterior nuclear group of thalamus, and portions of the basal ganglia. (Parent, Carpenter's Human Neuroanatomy, 9th ed, p744; NeuroNames, http://rprcsgi.rprc.washington.edu/neuronames/index.html (September 2, 1998)). [NIH] Linkage: The tendency of two or more genes in the same chromosome to remain together from one generation to the next more frequently than expected according to the law of independent assortment. [NIH] Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. [NIH] Lipid: Fat. [NIH] Lipoid: The most common nephrotic syndrome disease of childhood. [NIH] Lithium: An element in the alkali metals family. It has the atomic symbol Li, atomic number 3, and atomic weight 6.94. Salts of lithium are used in treating manic-depressive disorders. [NIH]

Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Lobe: A portion of an organ such as the liver, lung, breast, or brain. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH]

126

Huntington Disease

Longitudinal Studies: Studies in which variables relating to an individual or group of individuals are assessed over a period of time. [NIH] Long-Term Care: Care over an extended period, usually for a chronic condition or disability, requiring periodic, intermittent, or continuous care. [NIH] Lymphatic: The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. [NIH] Lymphoblasts: Interferon produced predominantly by leucocyte cells. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Lysine: An essential amino acid. It is often added to animal feed. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Magnetic Resonance Spectroscopy: Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (magnetic resonance imaging). [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Manic: Affected with mania. [EU] Manic-depressive psychosis: One of a group of psychotic reactions, fundamentally marked by severe mood swings and a tendency to remission and recurrence. [NIH] Marital Status: A demographic parameter indicating a person's status with respect to marriage, divorce, widowhood, singleness, etc. [NIH] Medial: Lying near the midsaggital plane of the body; opposed to lateral. [NIH] Mediate: Indirect; accomplished by the aid of an intervening medium. [EU] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Meiosis: A special method of cell division, occurring in maturation of the germ cells, by means of which each daughter nucleus receives half the number of chromosomes characteristic of the somatic cells of the species. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Memory: Complex mental function having four distinct phases: (1) memorizing or learning, (2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory. [NIH]

Dictionary 127

Meninges: The three membranes that cover and protect the brain and spinal cord. [NIH] Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mental Health: The state wherein the person is well adjusted. [NIH] Mesolimbic: Inner brain region governing emotion and drives. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microbe: An organism which cannot be observed with the naked eye; e. g. unicellular animals, lower algae, lower fungi, bacteria. [NIH] Microorganism: An organism that can be seen only through a microscope. Microorganisms include bacteria, protozoa, algae, and fungi. Although viruses are not considered living organisms, they are sometimes classified as microorganisms. [NIH] Mitosis: A method of indirect cell division by means of which the two daughter nuclei normally receive identical complements of the number of chromosomes of the somatic cells of the species. [NIH] Mitotic: Cell resulting from mitosis. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monitor: An apparatus which automatically records such physiological signs as respiration, pulse, and blood pressure in an anesthetized patient or one undergoing surgical or other procedures. [NIH] Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single zygote, as opposed to chimerism in which the different cell populations are derived from more than one zygote. [NIH] Motor Activity: The physical activity of an organism as a behavioral phenomenon. [NIH] Motor nerve: An efferent nerve conveying an impulse that excites muscular contraction. [NIH]

Motor Neurons: Neurons which activate muscle cells. [NIH] Movement Disorders: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are

128

Huntington Disease

characterized by progressive degeneration of skeletal muscles. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] Nausea: An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephropathy: Disease of the kidneys. [EU] Nephrotic: Pertaining to, resembling, or caused by nephrosis. [EU] Nephrotic Syndrome: Clinical association of heavy proteinuria, hypoalbuminemia, and generalized edema. [NIH] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nerve Degeneration: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways. [NIH]

Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neural Pathways: Neural tracts connecting one part of the nervous system with another. [NIH]

Neurites: In tissue culture, hairlike projections of neurons stimulated by growth factors and other molecules. These projections may go on to form a branched tree of dendrites or a single axon or they may be reabsorbed at a later stage of development. "Neurite" may refer to any filamentous or pointed outgrowth of an embryonal or tissue-culture neural cell. [NIH] Neurodegenerative Diseases: Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [NIH]

Dictionary 129

Neurogenic: Loss of bladder control caused by damage to the nerves controlling the bladder. [NIH] Neuroleptic: A term coined to refer to the effects on cognition and behaviour of antipsychotic drugs, which produce a state of apathy, lack of initiative, and limited range of emotion and in psychotic patients cause a reduction in confusion and agitation and normalization of psychomotor activity. [EU] Neurologic: Having to do with nerves or the nervous system. [NIH] Neuromuscular: Pertaining to muscles and nerves. [EU] Neuromuscular Junction: The synapse between a neuron and a muscle. [NIH] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU] Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Neurophysiology: The scientific discipline concerned with the physiology of the nervous system. [NIH] Neuroprotective Agents: Drugs intended to prevent damage to the brain or spinal cord from ischemia, stroke, convulsions, or trauma. Some must be administered before the event, but others may be effective for some time after. They act by a variety of mechanisms, but often directly or indirectly minimize the damage produced by endogenous excitatory amino acids. [NIH] Neuropsychological Tests: Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury. [NIH] Neuroretinitis: Inflammation of the optic nerve head and adjacent retina. [NIH] Neurotoxic: Poisonous or destructive to nerve tissue. [EU] Neurotoxicity: The tendency of some treatments to cause damage to the nervous system. [NIH]

Neurotoxin: A substance that is poisonous to nerve tissue. [NIH] Neurotransmitters: Endogenous signaling molecules that alter the behavior of neurons or effector cells. Neurotransmitter is used here in its most general sense, including not only messengers that act directly to regulate ion channels, but also those that act through second messenger systems, and those that act at a distance from their site of release. Included are neuromodulators, neuroregulators, neuromediators, and neurohumors, whether or not acting at synapses. [NIH] Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Norepinephrine: Precursor of epinephrine that is secreted by the adrenal medulla and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus. It is also found in plants and is used pharmacologically as a sympathomimetic. [NIH] Nuclear: A test of the structure, blood flow, and function of the kidneys. The doctor injects a mildly radioactive solution into an arm vein and uses x-rays to monitor its progress through the kidneys. [NIH] Nuclear Localization Signal: Short, predominantly basic amino acid sequences identified as

130

Huntington Disease

nuclear import signals for some proteins. These sequences are believed to interact with specific receptors at nuclear pores. [NIH] Nuclear Pore: An opening through the nuclear envelope formed by the nuclear pore complex which transports nuclear proteins or RNA into or out of the cell nucleus and which, under some conditions, acts as an ion channel. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleic acid: Either of two types of macromolecule (DNA or RNA) formed by polymerization of nucleotides. Nucleic acids are found in all living cells and contain the information (genetic code) for the transfer of genetic information from one generation to the next. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Oculomotor: Cranial nerve III. It originate from the lower ventral surface of the midbrain and is classified as a motor nerve. [NIH] Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Opsin: A protein formed, together with retinene, by the chemical breakdown of metarhodopsin. [NIH] Optic Nerve: The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. [NIH] Orthostatic: Pertaining to or caused by standing erect. [EU] Outpatient: A patient who is not an inmate of a hospital but receives diagnosis or treatment in a clinic or dispensary connected with the hospital. [NIH] Overexpress: An excess of a particular protein on the surface of a cell. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] Oxygenase: Enzyme which breaks down heme, the iron-containing oxygen-carrying constituent of the red blood cells. [NIH] Oxygenation: The process of supplying, treating, or mixing with oxygen. No:1245 oxygenation the process of supplying, treating, or mixing with oxygen. [EU] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Parkinsonism: A group of neurological disorders characterized by hypokinesia, tremor, and muscular rigidity. [EU] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Pathogenesis: The cellular events and reactions that occur in the development of disease.

Dictionary 131

[NIH]

Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologic Processes: The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. [NIH] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Pelvic: Pertaining to the pelvis. [EU] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Peptide T: N-(N-(N(2)-(N-(N-(N-(N-D-Alanyl L-seryl)-L-threonyl)-L-threonyl) L-threonyl)L-asparaginyl)-L-tyrosyl) L-threonine. Octapeptide sharing sequence homology with HIV envelope protein gp120. It is potentially useful as antiviral agent in AIDS therapy. The core pentapeptide sequence, TTNYT, consisting of amino acids 4-8 in peptide T, is the HIV envelope sequence required for attachment to the CD4 receptor. [NIH] Perinatal: Pertaining to or occurring in the period shortly before and after birth; variously defined as beginning with completion of the twentieth to twenty-eighth week of gestation and ending 7 to 28 days after birth. [EU] Peripheral Nervous System: The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and sympathetic subdivisions. The somatic nervous system includes the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. [NIH] PH: The symbol relating the hydrogen ion (H+) concentration or activity of a solution to that of a given standard solution. Numerically the pH is approximately equal to the negative logarithm of H+ concentration expressed in molarity. pH 7 is neutral; above it alkalinity increases and below it acidity increases. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Philately: Study of stamps or postal markings. It usually refers to the design and commemorative aspects of the stamp. [NIH] Phosphodiesterase: Effector enzyme that regulates the levels of a second messenger, the cyclic GMP. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Photoreceptor: Receptor capable of being activated by light stimuli, as a rod or cone cell of the eye. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH]

132

Huntington Disease

Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Piperidines: A family of hexahydropyridines. Piperidine itself is found in the pepper plant as the alkaloid piperine. [NIH] Pituitary Gland: A small, unpaired gland situated in the sella turcica tissue. It is connected to the hypothalamus by a short stalk. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [NIH] Polymorphic: Occurring in several or many forms; appearing in different forms at different stages of development. [EU] Polymorphism: The occurrence together of two or more distinct forms in the same population. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polyposis: The development of numerous polyps (growths that protrude from a mucous membrane). [NIH] Pons: The part of the central nervous system lying between the medulla oblongata and the mesencephalon, ventral to the cerebellum, and consisting of a pars dorsalis and a pars ventralis. [NIH] Porphyria: A group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway. The porphyrias are usually divided into three broad groups, erythropoietic, hepatic, and erythrohepatic, according to the major sites of abnormal porphyrin synthesis. [NIH]

Porphyrins: A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component

Dictionary 133

in biologically significant compounds such as hemoglobin and myoglobin. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postherpetic Neuralgia: Variety of neuralgia associated with migraine in which pain is felt in or behind the eye. [NIH] Post-traumatic: Occurring as a result of or after injury. [EU] Potentiates: A degree of synergism which causes the exposure of the organism to a harmful substance to worsen a disease already contracted. [NIH] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Preclinical: Before a disease becomes clinically recognizable. [EU] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prefrontal Cortex: The rostral part of the frontal lobe, bounded by the inferior precentral fissure in humans, which receives projection fibers from the mediodorsal nucleus of the thalamus. The prefrontal cortex receives afferent fibers from numerous structures of the diencephalon, mesencephalon, and limbic system as well as cortical afferents of visual, auditory, and somatic origin. [NIH] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH] Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Prion: Small proteinaceous infectious particles that resist inactivation by procedures modifying nucleic acids and contain an abnormal isoform of a cellular protein which is a major and necessary component. [NIH] Probe: An instrument used in exploring cavities, or in the detection and dilatation of strictures, or in demonstrating the potency of channels; an elongated instrument for exploring or sounding body cavities. [NIH] Progeny: The offspring produced in any generation. [NIH] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Projection: A defense mechanism, operating unconsciously, whereby that which is emotionally unacceptable in the self is rejected and attributed (projected) to others. [NIH] Promoter: A chemical substance that increases the activity of a carcinogenic process. [NIH] Prophase: The first phase of cell division, in which the chromosomes become visible, the nucleus starts to lose its identity, the spindle appears, and the centrioles migrate toward opposite poles. [NIH]

134

Huntington Disease

Prophylaxis: An attempt to prevent disease. [NIH] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protease: Proteinase (= any enzyme that catalyses the splitting of interior peptide bonds in a protein). [EU] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Protocol: The detailed plan for a clinical trial that states the trial's rationale, purpose, drug or vaccine dosages, length of study, routes of administration, who may participate, and other aspects of trial design. [NIH] Protons: Stable elementary particles having the smallest known positive charge, found in the nuclei of all elements. The proton mass is less than that of a neutron. A proton is the nucleus of the light hydrogen atom, i.e., the hydrogen ion. [NIH] Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Psychiatric: Pertaining to or within the purview of psychiatry. [EU] Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders. [NIH] Psychomotor: Pertaining to motor effects of cerebral or psychic activity. [EU] Psychosis: A mental disorder characterized by gross impairment in reality testing as evidenced by delusions, hallucinations, markedly incoherent speech, or disorganized and agitated behaviour without apparent awareness on the part of the patient of the incomprehensibility of his behaviour; the term is also used in a more general sense to refer to mental disorders in which mental functioning is sufficiently impaired as to interfere grossly with the patient's capacity to meet the ordinary demands of life. Historically, the term has been applied to many conditions, e.g. manic-depressive psychosis, that were first described in psychotic patients, although many patients with the disorder are not judged psychotic. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pyramidal Tracts: Fibers that arise from cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord. Many authorities say the pyramidal tracts include both the corticospinal and corticobulbar tracts. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the

Dictionary 135

waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radioactive: Giving off radiation. [NIH] Randomized: Describes an experiment or clinical trial in which animal or human subjects are assigned by chance to separate groups that compare different treatments. [NIH] Randomized clinical trial: A study in which the participants are assigned by chance to separate groups that compare different treatments; neither the researchers nor the participants can choose which group. Using chance to assign people to groups means that the groups will be similar and that the treatments they receive can be compared objectively. At the time of the trial, it is not known which treatment is best. It is the patient's choice to be in a randomized trial. [NIH] Reagent: A substance employed to produce a chemical reaction so as to detect, measure, produce, etc., other substances. [EU] Reality Testing: The individual's objective evaluation of the external world and the ability to differentiate adequately between it and the internal world; considered to be a primary ego function. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Red blood cells: RBCs. Cells that carry oxygen to all parts of the body. Also called erythrocytes. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Regeneration: The natural renewal of a structure, as of a lost tissue or part. [EU] Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA. [NIH] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinal: 1. Pertaining to the retina. 2. The aldehyde of retinol, derived by the oxidative enzymatic splitting of absorbed dietary carotene, and having vitamin A activity. In the retina, retinal combines with opsins to form visual pigments. One isomer, 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin, or visual purple. Another, all-trans retinal (trans-r.); visual yellow; xanthopsin) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal also combines with opsins in the cones (photopsins) to form the three pigments responsible for colour vision. Called also retinal, and retinene1. [EU] Retinitis: Inflammation of the retina. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (chorioretinitis) and of the optic nerve

136

Huntington Disease

(neuroretinitis). The disease may be confined to one eye, but since it is generally dependent on a constitutional factor, it is almost always bilateral. It may be acute in course, but as a rule it lasts many weeks or even several months. [NIH] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Retinol: Vitamin A. It is essential for proper vision and healthy skin and mucous membranes. Retinol is being studied for cancer prevention; it belongs to the family of drugs called retinoids. [NIH] Rigidity: Stiffness or inflexibility, chiefly that which is abnormal or morbid; rigor. [EU] Rod: A reception for vision, located in the retina. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Schizoid: Having qualities resembling those found in greater degree in schizophrenics; a person of schizoid personality. [NIH] Schizophrenia: A mental disorder characterized by a special type of disintegration of the personality. [NIH] Schizotypal Personality Disorder: A personality disorder in which there are oddities of thought (magical thinking, paranoid ideation, suspiciousness), perception (illusions, depersonalization), speech (digressive, vague, overelaborate), and behavior (inappropriate affect in social interactions, frequently social isolation) that are not severe enough to characterize schizophrenia. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Second Messenger Systems: Systems in which an intracellular signal is generated in response to an intercellular primary messenger such as a hormone or neurotransmitter. They are intermediate signals in cellular processes such as metabolism, secretion, contraction, phototransduction, and cell growth. Examples of second messenger systems are the adenyl cyclase-cyclic AMP system, the phosphatidylinositol diphosphate-inositol triphosphate system, and the cyclic GMP system. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Secular trends: A relatively long-term trend in a community or country. [NIH] Segregation: The separation in meiotic cell division of homologous chromosome pairs and their contained allelomorphic gene pairs. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Sequence Homology: The degree of similarity between sequences. Studies of amino acid and nucleotide sequences provide useful information about the genetic relatedness of certain species. [NIH]

Dictionary 137

Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serotonin: A biochemical messenger and regulator, synthesized from the essential amino acid L-tryptophan. In humans it is found primarily in the central nervous system, gastrointestinal tract, and blood platelets. Serotonin mediates several important physiological functions including neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity. Multiple receptor families (receptors, serotonin) explain the broad physiological actions and distribution of this biochemical mediator. [NIH] Sertraline: A selective serotonin uptake inhibitor that is used in the treatment of depression. [NIH]

Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Shock: The general bodily disturbance following a severe injury; an emotional or moral upset occasioned by some disturbing or unexpected experience; disruption of the circulation, which can upset all body functions: sometimes referred to as circulatory shock. [NIH]

Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Silver Staining: The use of silver, usually silver nitrate, as a reagent for producing contrast or coloration in tissue specimens. [NIH] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Sleep apnea: A serious, potentially life-threatening breathing disorder characterized by repeated cessation of breathing due to either collapse of the upper airway during sleep or absence of respiratory effort. [NIH] Smooth muscle: Muscle that performs automatic tasks, such as constricting blood vessels. [NIH]

Soma: The body as distinct from the mind; all the body tissue except the germ cells; all the axial body. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Somatic cells: All the body cells except the reproductive (germ) cells. [NIH] Sound wave: An alteration of properties of an elastic medium, such as pressure, particle displacement, or density, that propagates through the medium, or a superposition of such alterations. [NIH] Spasm: An involuntary contraction of a muscle or group of muscles. Spasms may involve skeletal muscle or smooth muscle. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Speech Intelligibility: Ability to make speech sounds that are recognizable. [NIH]

138

Huntington Disease

Sperm: The fecundating fluid of the male. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Spinal Cord Injuries: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., wounds, gunshot; whiplash injuries; etc.). [NIH] Spinal Nerves: The 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment. The spinal nerve plexuses and the spinal roots are also included. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Status Epilepticus: Repeated and prolonged epileptic seizures without recovery of consciousness between attacks. [NIH] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH] Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [NIH] Striatum: A higher brain's domain thus called because of its stripes. [NIH] Stroke: Sudden loss of function of part of the brain because of loss of blood flow. Stroke may be caused by a clot (thrombosis) or rupture (hemorrhage) of a blood vessel to the brain. [NIH] Strychnine: An alkaloid found in the seeds of nux vomica. It is a competitive antagonist at glycine receptors and thus a convulsant. It has been used as an analeptic, in the treatment of nonketotic hyperglycinemia and sleep apnea, and as a rat poison. [NIH] Subacute: Somewhat acute; between acute and chronic. [EU] Subarachnoid: Situated or occurring between the arachnoid and the pia mater. [EU] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Subiculum: A region of the hippocampus that projects to other areas of the brain. [NIH] Subspecies: A category intermediate in rank between species and variety, based on a smaller number of correlated characters than are used to differentiate species and generally conditioned by geographical and/or ecological occurrence. [NIH] Substrate: A substance upon which an enzyme acts. [EU] Sympathomimetic: 1. Mimicking the effects of impulses conveyed by adrenergic postganglionic fibres of the sympathetic nervous system. 2. An agent that produces effects similar to those of impulses conveyed by adrenergic postganglionic fibres of the sympathetic nervous system. Called also adrenergic. [EU] Symphysis: A secondary cartilaginous joint. [NIH] Symptomatic: Having to do with symptoms, which are signs of a condition or disease. [NIH]

Dictionary 139

Symptomatic treatment: Therapy that eases symptoms without addressing the cause of disease. [NIH] Synapses: Specialized junctions at which a neuron communicates with a target cell. At classical synapses, a neuron's presynaptic terminal releases a chemical transmitter stored in synaptic vesicles which diffuses across a narrow synaptic cleft and activates receptors on the postsynaptic membrane of the target cell. The target may be a dendrite, cell body, or axon of another neuron, or a specialized region of a muscle or secretory cell. Neurons may also communicate through direct electrical connections which are sometimes called electrical synapses; these are not included here but rather in gap junctions. [NIH] Synapsis: The pairing between homologous chromosomes of maternal and paternal origin during the prophase of meiosis, leading to the formation of gametes. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Systemic: Affecting the entire body. [NIH] Tardive: Marked by lateness, late; said of a disease in which the characteristic lesion is late in appearing. [EU] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Telencephalon: Paired anteriolateral evaginations of the prosencephalon plus the lamina terminalis. The cerebral hemispheres are derived from it. Many authors consider cerebrum a synonymous term to telencephalon, though a minority include diencephalon as part of the cerebrum (Anthoney, 1994). [NIH] Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs. [NIH] Temporal: One of the two irregular bones forming part of the lateral surfaces and base of the skull, and containing the organs of hearing. [NIH] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Thalamus: Paired bodies containing mostly gray substance and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups. [NIH]

Thermal: Pertaining to or characterized by heat. [EU] Threonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins. [NIH] Thrombin: An enzyme formed from prothrombin that converts fibrinogen to fibrin. (Dorland, 27th ed) EC 3.4.21.5. [NIH] Thrombomodulin: A cell surface glycoprotein of endothelial cells that binds thrombin and

140

Huntington Disease

serves as a cofactor in the activation of protein C and its regulation of blood coagulation. [NIH]

Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tissue Culture: Maintaining or growing of tissue, organ primordia, or the whole or part of an organ in vitro so as to preserve its architecture and/or function (Dorland, 28th ed). Tissue culture includes both organ culture and cell culture. [NIH] Tolerance: 1. The ability to endure unusually large doses of a drug or toxin. 2. Acquired drug tolerance; a decreasing response to repeated constant doses of a drug or the need for increasing doses to maintain a constant response. [EU] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicity: The quality of being poisonous, especially the degree of virulence of a toxic microbe or of a poison. [EU] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxins: Specific, characterizable, poisonous chemicals, often proteins, with specific biological properties, including immunogenicity, produced by microbes, higher plants, or animals. [NIH] Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Transgenes: Genes that are introduced into an organism using gene transfer techniques. [NIH]

Transmitter: A chemical substance which effects the passage of nerve impulses from one cell to the other at the synapse. [NIH] Transport Vesicles: Vesicles that are involved in shuttling cargo from the interior of the cell to the cell surface, from the cell surface to the interior, across the cell or around the cell to various locations. [NIH] Trauma: Any injury, wound, or shock, must frequently physical or structural shock, producing a disturbance. [NIH] Tremor: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of cerebellar diseases, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of Parkinson disease. [NIH] Trigger zone: Dolorogenic zone (= producing or causing pain). [EU] Trinucleotide Repeat Expansion: DNA region comprised of a variable number of repetitive, contiguous trinucleotide sequences. The presence of these regions is associated with diseases

Dictionary 141

such as Fragile X Syndrome and myotonic dystrophy. Many chromosome fragile sites (chromosome fragility) contain expanded trinucleotide repeats. [NIH] Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes. [NIH] Trophic: Of or pertaining to nutrition. [EU] Tuberculosis: Any of the infectious diseases of man and other animals caused by species of Mycobacterium. [NIH] Tuberculostatic: Inhibiting the growth of Mycobacterium tuberculosis. [EU] Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Tubulin: A microtubule subunit protein found in large quantities in mammalian brain. It has also been isolated from sperm flagella, cilia, and other sources. Structurally, the protein is a dimer with a molecular weight of approximately 120,000 and a sedimentation coefficient of 5.8S. It binds to colchicine, vincristine, and vinblastine. [NIH] Tumor marker: A substance sometimes found in an increased amount in the blood, other body fluids, or tissues and which may mean that a certain type of cancer is in the body. Examples of tumor markers include CA 125 (ovarian cancer), CA 15-3 (breast cancer), CEA (ovarian, lung, breast, pancreas, and gastrointestinal tract cancers), and PSA (prostate cancer). Also called biomarker. [NIH] Tyrosine: A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin. [NIH] Ubiquitin: A highly conserved 76 amino acid-protein found in all eukaryotic cells. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Vaccine: A substance or group of substances meant to cause the immune system to respond to a tumor or to microorganisms, such as bacteria or viruses. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vasculitis: Inflammation of a blood vessel. [NIH] Vasodilator: An agent that widens blood vessels. [NIH] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Venous blood: Blood that has given up its oxygen to the tissues and carries carbon dioxide back for gas exchange. [NIH] Ventral: 1. Pertaining to the belly or to any venter. 2. Denoting a position more toward the belly surface than some other object of reference; same as anterior in human anatomy. [EU] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the

142

Huntington Disease

body through the aorta. [NIH] Vertebrae: A bony unit of the segmented spinal column. [NIH] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Vinblastine: An anticancer drug that belongs to the family of plant drugs called vinca alkaloids. It is a mitotic inhibitor. [NIH] Vincristine: An anticancer drug that belongs to the family of plant drugs called vinca alkaloids. [NIH] Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. [NIH] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Viscera: Any of the large interior organs in any one of the three great cavities of the body, especially in the abdomen. [NIH] Vital Capacity: The volume of air that is exhaled by a maximal expiration following a maximal inspiration. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] Volition: Voluntary activity without external compulsion. [NIH] Vomica: The profuse and sudden expectoration of pus and putrescent matter. An abnormal cavity in an organ especially in the lung, caused by suppuration and the breaking down of tissue. [NIH] White blood cell: A type of cell in the immune system that helps the body fight infection and disease. White blood cells include lymphocytes, granulocytes, macrophages, and others. [NIH]

Withdrawal: 1. A pathological retreat from interpersonal contact and social involvement, as may occur in schizophrenia, depression, or schizoid avoidant and schizotypal personality disorders. 2. (DSM III-R) A substance-specific organic brain syndrome that follows the cessation of use or reduction in intake of a psychoactive substance that had been regularly used to induce a state of intoxication. [EU] Wound Healing: Restoration of integrity to traumatized tissue. [NIH] Wounds, Gunshot: Disruption of structural continuity of the body as a result of the discharge of firearms. [NIH] Xenograft: The cells of one species transplanted to another species. [NIH] X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH] Zygote: The fertilized ovum. [NIH] Zymogen: Inactive form of an enzyme which can then be converted to the active form, usually by excision of a polypeptide, e. g. trypsinogen is the zymogen of trypsin. [NIH]

143

INDEX A Acetylcholine, 69, 105, 112 Adaptability, 105, 111 Adrenergic, 105, 107, 108, 117, 118, 138 Adrenergic beta-Antagonists, 105, 107 Afferent, 105, 133 Affinity, 105 Age of Onset, 13, 27, 31, 33, 105 Agonist, 28, 105, 117, 124 Akathisia, 105, 108 Alfalfa, 46, 105 Algorithms, 105, 109 Alkaloid, 105, 113, 132, 138 Alleles, 23, 38, 46, 57, 58, 106, 125 Alternative medicine, 78, 106 Amantadine, 15, 106 Ambulatory Care, 106 Amino Acid Sequence, 106, 107, 114, 119, 129 Amino Acids, 106, 108, 114, 119, 131, 132, 134 Aminooxyacetic Acid, 30, 106 Aminopropionitrile, 106, 125 Ammonia, 106, 120 Amplification, 45, 106 Amygdala, 106, 109, 125, 139 Analeptic, 106, 138 Anatomical, 106, 123, 136 Anemia, 89, 106 Angiotensin-Converting Enzyme Inhibitors, 106, 107 Animal model, 9, 21, 29, 107 Annealing, 107, 132 Anoxia, 66, 68, 107 Anterior Cerebral Artery, 107, 111 Antibiotics, 66, 67, 107 Antibodies, 107, 121 Antibody, 13, 29, 105, 107, 115, 122, 123 Anticoagulant, 107, 134 Anticonvulsant, 107, 110 Antiemetic, 107, 108 Antigen, 105, 107, 122, 123 Antihypertensive, 66, 68, 107 Antihypertensive Agents, 66, 68, 107 Anti-infective, 107, 124 Anti-inflammatory, 9, 107 Anti-Inflammatory Agents, 9, 107 Antipsychotic, 66, 68, 107, 129

Antiviral, 106, 108, 131 Anxiety, 66, 67, 105, 108 Aphasia, 74, 108 Apoptosis, 37, 108, 111 Aqueous, 108, 109, 115, 118 Arterial, 108, 110, 111, 122, 124, 134 Arteries, 108, 110, 112, 114, 127 Arteriovenous, 108, 112 Articulation, 108, 117 Aspartate, 66, 67, 108 Aspartic, 70, 108, 119 Aspartic Acid, 70, 108 Asphyxia, 66, 68, 108 Assay, 6, 8, 108 Asymptomatic, 62, 108 Ataxia, 8, 68, 69, 89, 108, 111, 139 Atrophy, 11, 19, 34, 88, 89, 109, 128 Auditory, 109, 133 Autoimmune disease, 68, 109 Autonomic, 105, 108, 109, 120, 129, 131 Autonomic Nervous System, 109, 131 Autoradiography, 50, 109 Axons, 109, 116, 128, 130 B Basal Ganglia, 37, 53, 108, 109, 112, 125 Basal Ganglia Diseases, 109, 112 Base, 57, 109, 116, 124, 139 Benign, 109, 121 Bilateral, 109, 136 Biochemical, 24, 106, 109, 137 Biomarkers, 7, 109 Biotechnology, 12, 14, 78, 85, 87, 88, 89, 90, 109 Bladder, 110, 123, 129, 134, 141 Blood pressure, 107, 110, 112, 120, 122, 127 Blood vessel, 110, 111, 118, 122, 124, 137, 138, 139, 140, 141 Body Fluids, 109, 110, 141 Bowel, 110, 116, 124, 138 Bowel Movement, 110, 116, 138 Brain Ischemia, 110, 112 Brain Stem, 70, 110, 111, 112 Branch, 101, 110, 117, 131, 137 Bulimia, 40, 110 C Calcium, 107, 110 Calcium channel blocker, 107, 110 Calcium Channel Blockers, 107, 110

144

Huntington Disease

Carbamazepine, 28, 110 Carcinogenic, 110, 123, 133 Carcinogens, 110, 130 Cardiac, 66, 68, 105, 110, 118, 128 Cardiac arrest, 66, 68, 110 Carotene, 110, 135 Case report, 50, 111 Caspase, 9, 78, 111 Catecholamine, 111, 117 Cause of Death, 111, 115 Cell, 6, 7, 9, 11, 12, 18, 29, 33, 35, 36, 37, 52, 68, 88, 89, 105, 108, 109, 110, 111, 112, 115, 116, 117, 118, 119, 120, 121, 123, 124, 125, 126, 127, 128, 130, 131, 132, 133, 135, 136, 139, 140, 142 Cell Death, 9, 29, 37, 108, 111, 128 Cell Division, 88, 111, 121, 126, 127, 132, 133, 136 Cell membrane, 110, 111, 116, 131 Central Nervous System, 9, 11, 66, 67, 68, 105, 109, 111, 112, 120, 121, 129, 130, 132, 137 Central Nervous System Diseases, 11, 111 Central Nervous System Infections, 111, 121 Cerebellar, 34, 69, 109, 111, 135, 140 Cerebellar Diseases, 109, 111, 140 Cerebellum, 111, 112, 132, 135 Cerebral, 19, 51, 66, 67, 70, 107, 109, 110, 111, 112, 114, 116, 118, 119, 122, 134, 139 Cerebral hemispheres, 109, 110, 111, 112, 139 Cerebral Infarction, 66, 68, 111, 112 Cerebrovascular, 66, 68, 70, 109, 110, 111, 112, 139 Cerebrovascular Disorders, 66, 68, 70, 112, 139 Cerebrum, 55, 111, 112, 139, 141 Character, 112, 115 Chemokines, 68, 112 Chemoreceptor, 108, 112 Choline, 69, 112 Cholinergic, 13, 108, 112 Chorea, 7, 40, 108, 112 Choreatic Disorders, 112 Chorioretinitis, 112, 135 Choroid, 112, 135 Chromatin, 108, 112 Chromosomal, 21, 106, 112, 127, 139 Chromosome, 12, 13, 14, 15, 21, 23, 39, 50, 52, 54, 56, 112, 120, 125, 136, 139, 141 Chromosome Fragility, 112, 141

Chronic, 66, 67, 88, 107, 113, 116, 118, 123, 124, 126, 132, 138 Chronic renal, 113, 132 CIS, 7, 113, 135 Clinical trial, 4, 7, 10, 61, 63, 85, 113, 114, 134, 135 Cloning, 22, 30, 46, 109, 113 Cofactor, 113, 134, 140 Cognition, 69, 113, 129 Colchicine, 113, 141 Collagen, 113, 119, 120 Colloidal, 113, 117 Colorectal, 25, 113 Colorectal Cancer, 25, 113 Community Networks, 74, 113 Compress, 113, 122 Computational Biology, 85, 87, 113 Computed tomography, 113, 114 Computerized axial tomography, 114 Computerized tomography, 19, 114 Conception, 114, 119 Conduction, 11, 114 Cone, 114, 131 Congestion, 108, 114 Connective Tissue, 113, 114, 119, 120 Consciousness, 114, 115, 116, 138 Consensus Sequence, 114 Conserved Sequence, 36, 114 Constipation, 108, 114 Constitutional, 114, 136 Constriction, 114, 124 Contraindications, ii, 114 Controlled study, 10, 114 Convulsions, 66, 67, 107, 114, 129 Coronary, 114, 127 Coronary Thrombosis, 114, 127 Corpuscle, 115, 118 Cortex, 10, 58, 70, 109, 115, 118, 119, 133, 134, 135 Cortical, 41, 115, 119, 133, 136, 139 Cranial, 111, 115, 121, 130, 131 Craniocerebral Trauma, 109, 115, 121, 139 Crossing-over, 115, 135 Cyclic, 115, 131, 132, 136 Cystamine, 49, 115 Cysteine, 112, 115 Cytokines, 68, 112, 115 Cytoplasm, 108, 111, 115 Cytotoxic, 68, 115 D Databases, Bibliographic, 85, 115 Death Certificates, 20, 115

Index 145

Decision Making, 74, 115 Degenerative, 66, 67, 70, 115, 127 Deletion, 28, 108, 115 Delirium, 108, 115 Delusions, 116, 134 Dementia, 24, 50, 61, 68, 69, 70, 74, 94, 108, 116 Denaturation, 116, 132 Dendrites, 116, 128, 129 Dentate Gyrus, 116, 122 Depolarization, 37, 116 Depressive Disorder, 95, 116, 125 Diagnostic procedure, 65, 78, 116 Diencephalon, 111, 112, 116, 133, 139 Digestive system, 63, 116 Dilatation, 116, 133 Direct, iii, 6, 18, 116, 117, 135, 139 Disease Progression, 9, 116 Distal, 116, 134 Diuretics, Thiazide, 107, 116 Dopamine, 13, 44, 106, 108, 117 Drug Tolerance, 117, 140 Dwarfism, 5, 117 Dysarthria, 74, 117 Dyskinesia, 50, 108, 117 Dysphoric, 116, 117 Dysplasia, 89, 117 Dystonia, 27, 108, 117 Dystrophic, 26, 117 Dystrophy, 6, 88, 117 E Edema, 117, 122, 128 Effector, 105, 117, 129, 131 Effector cell, 117, 129 Electrons, 109, 117, 124, 126, 135 Electrophoresis, 39, 117 Electrophysiological, 4, 17, 117 Elementary Particles, 117, 126, 134 Embryo, 117, 123, 133 Emulsion, 109, 118 Endemic, 118, 138 Endonucleases, 118, 135 Endothelial cell, 118, 119, 139 End-stage renal, 113, 118, 132 Enhancers, 8, 118 Entorhinal Cortex, 118, 122 Environmental Exposure, 118, 130 Environmental Health, 84, 86, 118 Enzymatic, 110, 111, 118, 122, 132, 135 Enzyme, 9, 78, 111, 117, 118, 123, 130, 131, 132, 134, 138, 139, 142 Enzyme Inhibitors, 9, 118

Epidemic, 118, 138 Epidemiological, 34, 118 Epinephrine, 105, 117, 118, 129, 141 Erythrocyte Membrane, 42, 54, 118 Erythrocytes, 106, 118, 121, 135 Esophagus, 116, 118, 138 Essential Tremor, 89, 119 Eukaryotic Cells, 119, 123, 141 Excitation, 66, 67, 112, 119 Excitatory, 66, 67, 70, 119, 120, 124, 129 Excitatory Amino Acid Agonists, 119, 124 Excitatory Amino Acids, 66, 67, 119, 129 Excitotoxicity, 9, 119 Exon, 41, 119 Expiration, 119, 142 Extracellular, 114, 119 Extracellular Matrix, 114, 119 Extrapyramidal, 7, 105, 106, 108, 117, 119 F Facial, 74, 119 Family Planning, 85, 119 Ferritin, 43, 52, 119 Fetus, 36, 119, 133 Fibroblast Growth Factor, 14, 119 Fibroblasts, 24, 33, 39, 53, 58, 119 Fibrosis, 5, 89, 119, 136 Fissure, 116, 119, 133 Frontal Lobe, 107, 111, 119, 133 G Gait, 18, 111, 119 Gallbladder, 116, 120 Ganglia, 19, 105, 109, 120, 128, 131 Ganglionic Blockers, 107, 120 Gelatin, 120, 121, 139 Gene Expression, 6, 10, 89, 120 Gene Order, 41, 120 Genetic Counseling, 35, 39, 43, 120 Genetic Engineering, 109, 113, 120 Genetic testing, 5, 20, 33, 36, 47, 49, 52, 120, 132 Genotype, 17, 34, 120, 131 Germ Cells, 120, 126, 137 Gestation, 120, 131 Gland, 120, 130, 132, 134, 136, 138, 140 Glucose, 51, 88, 120, 121, 123, 124 Glutamate, 9, 41, 66, 67, 70, 119, 120, 124 Glutamic Acid, 18, 120 Glutamine, 9, 120 Glycerol, 121, 131 Glycerophospholipids, 121, 131 Glycine, 70, 121, 138 Glycoprotein, 24, 121, 139

146

Huntington Disease

Governing Board, 121, 133 Gp120, 121, 131 Growth, 13, 88, 107, 108, 111, 117, 119, 121, 126, 128, 130, 132, 136, 140, 141 Growth factors, 121, 128 H Half-Life, 12, 121 Headache, 66, 67, 121 Headache Disorders, 121 Hematoma, 121, 122 Heme, 121, 130, 132 Hemoglobin, 106, 118, 121, 133 Hemoglobinuria, 88, 121 Hemolysis, 118, 121 Hemorrhage, 115, 121, 138 Hemorrhagic stroke, 66, 68, 122 Hepatic, 116, 122, 132 Hereditary, 15, 44, 112, 122, 127, 128, 136 Heredity, 120, 122 Heterogeneity, 18, 32, 105, 122 Hippocampus, 70, 116, 122, 125, 138 Histamine, 108, 122 Homologous, 41, 106, 115, 122, 136, 139 Hormonal, 109, 122 Hormone, 117, 118, 122, 123, 124, 136, 140 Hybrid, 50, 52, 122 Hydrogen, 109, 116, 122, 127, 131, 134 Hydrolysis, 108, 118, 122, 132 Hyperkinesia, 28, 122 Hypertension, 105, 106, 107, 110, 121, 122 Hypoglycemia, 66, 67, 122 Hypotension, 108, 114, 120, 122 Hypoxia, 110, 112, 116, 122, 139 I Id, 88, 94, 95, 100, 102, 122 Iduronidase, 36, 41, 123 Immune response, 20, 107, 109, 123, 142 Immune system, 117, 123, 141, 142 Immunodeficiency, 88, 123 Immunofluorescence, 12, 123 Impairment, 3, 37, 52, 108, 112, 115, 117, 123, 127, 134 In situ, 31, 123 In Situ Hybridization, 31, 123 In vitro, 6, 12, 37, 123, 132, 140 In vivo, 12, 37, 44, 106, 123 Incontinence, 66, 67, 123 Induction, 108, 120, 123 Infarction, 110, 111, 115, 122, 123, 127 Infection, 9, 116, 123, 126, 138, 142 Inflammation, 107, 112, 119, 123, 129, 135, 141

Ingestion, 123, 125 Initiation, 5, 123, 140 Inotropic, 117, 123 Insight, 8, 123 Insulin, 40, 123, 124 Insulin-dependent diabetes mellitus, 124 Intermittent, 124, 126 Intestinal, 111, 124, 126 Intestine, 110, 113, 122, 124 Intoxication, 116, 124, 142 Intracellular, 110, 123, 124, 136 Intracranial Embolism, 112, 124 Intracranial Embolism and Thrombosis, 112, 124 Involuntary, 19, 109, 112, 119, 124, 128, 137 Iodine, 21, 124 Ion Channels, 124, 129 Ions, 109, 116, 122, 124 Ischemia, 66, 67, 109, 110, 122, 124, 129 Isoniazid, 30, 124 K Kainate, 13, 33, 124 Kainic Acid, 56, 124 Kb, 84, 124 Kidney Disease, 63, 84, 89, 124 L Large Intestine, 113, 116, 124, 135 Latency, 4, 125 Lathyrism, 66, 67, 125 Lesion, 125, 139 Lethal, 11, 125 Leucocyte, 125, 126 Leukemia, 88, 125 Leukocytes, 112, 115, 125 Library Services, 100, 125 Life cycle, 15, 125 Ligament, 125, 134 Limbic, 106, 125, 133 Limbic System, 106, 125, 133 Linkage, 15, 17, 21, 22, 27, 32, 33, 40, 41, 125 Linkage Disequilibrium, 17, 22, 125 Lipid, 112, 121, 124, 125 Lipoid, 55, 125 Lithium, 108, 125 Liver, 115, 116, 118, 120, 122, 125 Lobe, 106, 107, 111, 125 Localization, 12, 20, 125, 128 Localized, 110, 121, 123, 125, 132 Longitudinal Studies, 7, 126 Long-Term Care, 20, 126

Index 147

Lymphatic, 123, 126 Lymphoblasts, 37, 126 Lymphoid, 107, 125, 126 Lymphoma, 88, 126 Lysine, 11, 126 M Magnetic Resonance Imaging, 126 Magnetic Resonance Spectroscopy, 48, 126 Malabsorption, 88, 126 Malignant, 44, 88, 126 Malnutrition, 109, 126, 127 Manic, 108, 125, 126, 134 Manic-depressive psychosis, 126, 134 Marital Status, 43, 126 Medial, 8, 126 Mediate, 7, 117, 126 MEDLINE, 85, 87, 89, 126 Meiosis, 5, 13, 34, 126, 139 Melanocytes, 126 Melanoma, 88, 126 Membrane, 8, 28, 42, 111, 112, 116, 119, 121, 124, 126, 131, 132, 135, 139 Memory, 4, 69, 115, 116, 126 Meninges, 111, 115, 127 Mental Disorders, 61, 63, 127, 134 Mental Health, iv, 4, 33, 61, 63, 84, 86, 127 Mesolimbic, 108, 127 MI, 23, 42, 66, 67, 103, 127 Microbe, 127, 140 Microorganism, 113, 127, 142 Mitosis, 108, 127 Mitotic, 5, 7, 42, 127, 142 Modification, 26, 40, 120, 127 Molecule, 7, 107, 109, 117, 119, 121, 122, 127, 135 Monitor, 127, 129 Mosaicism, 53, 127 Motor Activity, 114, 127 Motor nerve, 9, 127, 130 Motor Neurons, 9, 127 Movement Disorders, 20, 74, 106, 108, 127, 139 Muscle Fibers, 127 Muscular Atrophy, 69, 88, 127 Muscular Dystrophies, 117, 127 Myocardium, 127, 128 Myotonic Dystrophy, 6, 88, 128, 141 N Nausea, 107, 108, 128 NCI, 1, 63, 83, 113, 128 Necrosis, 108, 111, 123, 127, 128

Need, 3, 49, 73, 74, 96, 113, 128, 140 Neoplasia, 88, 128 Neoplastic, 126, 128 Nephropathy, 124, 128 Nephrotic, 125, 128 Nephrotic Syndrome, 125, 128 Nerve, 13, 70, 105, 109, 115, 116, 127, 128, 129, 130, 136, 138, 140 Nerve Degeneration, 128 Nervous System, 11, 61, 66, 68, 89, 105, 106, 109, 111, 128, 129, 131, 138 Neural, 4, 36, 105, 120, 128 Neural Pathways, 128 Neurites, 26, 128 Neurodegenerative Diseases, 8, 11, 69, 109, 128 Neurogenic, 74, 129 Neuroleptic, 44, 105, 107, 129 Neurologic, 73, 74, 129 Neuromuscular, 74, 105, 129 Neuromuscular Junction, 105, 129 Neuronal, 8, 9, 11, 26, 30, 41, 44, 78, 129 Neurons, 9, 11, 13, 21, 25, 55, 66, 67, 69, 70, 116, 119, 120, 127, 128, 129, 139 Neurophysiology, 39, 116, 128, 129 Neuroprotective Agents, 66, 67, 129 Neuropsychological Tests, 3, 129 Neuroretinitis, 129, 136 Neurotoxic, 68, 129 Neurotoxicity, 124, 129 Neurotoxin, 56, 129 Neurotransmitters, 66, 67, 119, 129 Nitrogen, 106, 120, 129 Norepinephrine, 105, 117, 129 Nuclear, 7, 8, 10, 21, 56, 109, 117, 119, 125, 128, 129, 130, 139 Nuclear Localization Signal, 56, 129 Nuclear Pore, 130 Nuclei, 26, 106, 107, 117, 120, 125, 126, 127, 130, 134 Nucleic acid, 123, 129, 130, 133 Nucleus, 9, 10, 107, 108, 109, 112, 115, 117, 119, 126, 130, 133, 134, 138, 139 O Oculomotor, 7, 130 Oncogene, 88, 130 Opsin, 130, 135 Optic Nerve, 129, 130, 135 Orthostatic, 108, 130 Outpatient, 130 Overexpress, 12, 68, 130 Ovum, 120, 125, 130, 142

148

Huntington Disease

Oxygenase, 12, 130 Oxygenation, 122, 130 P Pancreas, 109, 116, 123, 130, 141 Pancreatic, 88, 130 Pancreatic cancer, 88, 130 Parkinsonism, 66, 67, 108, 130 Paroxysmal, 88, 121, 130 Pathogenesis, 8, 9, 11, 44, 51, 130 Pathologic, 108, 114, 131 Pathologic Processes, 108, 131 Pathophysiology, 10, 131 Pelvic, 131, 134 Peptide, 78, 119, 131, 132, 134 Peptide T, 78, 131 Perinatal, 66, 68, 131 Peripheral Nervous System, 70, 117, 128, 131 PH, 21, 131 Pharmacologic, 121, 131, 140 Phenotype, 8, 16, 27, 34, 131 Philately, 32, 131 Phosphodiesterase, 21, 131 Phospholipids, 42, 131 Photoreceptor, 21, 131 Physiologic, 105, 121, 131, 135, 140 Physiology, 27, 117, 129, 131 Pigment, 126, 132 Piperidines, 66, 68, 132 Pituitary Gland, 119, 132 Plants, 105, 108, 112, 120, 125, 129, 132, 140 Plasma, 36, 107, 111, 120, 121, 132, 136 Polycystic, 89, 132 Polymerase, 37, 132 Polymerase Chain Reaction, 37, 132 Polymorphic, 17, 21, 45, 116, 132 Polymorphism, 18, 132 Polypeptide, 106, 113, 114, 132, 142 Polyposis, 113, 132 Pons, 110, 132 Porphyria, 55, 132 Porphyrins, 132 Posterior, 109, 111, 112, 130, 133 Postherpetic Neuralgia, 106, 133 Post-traumatic, 121, 127, 133 Potentiates, 70, 133 Practice Guidelines, 86, 94, 133 Preclinical, 29, 133 Precursor, 112, 117, 118, 129, 133, 141 Prefrontal Cortex, 44, 133 Prenatal, 27, 36, 45, 51, 117, 133

Prenatal Diagnosis, 27, 36, 45, 133 Prevalence, 26, 49, 133 Prion, 11, 35, 69, 111, 133 Probe, 58, 133 Progeny, 68, 133 Progression, 7, 9, 38, 49, 107, 133 Progressive, 8, 9, 27, 74, 113, 116, 117, 121, 128, 133 Projection, 13, 25, 129, 130, 133, 135 Promoter, 54, 133 Prophase, 133, 139 Prophylaxis, 11, 134 Prostate, 88, 109, 134, 141 Protease, 12, 134 Protein C, 11, 106, 119, 134 Protein S, 89, 109, 114, 134 Protocol, 18, 49, 54, 134 Protons, 122, 126, 134, 135 Proximal, 23, 116, 134 Psychiatric, 16, 22, 61, 127, 134 Psychiatry, 33, 34, 35, 44, 48, 134 Psychomotor, 110, 115, 129, 134 Psychosis, 66, 67, 107, 134 Public Policy, 85, 134 Publishing, 12, 73, 74, 134 Pulmonary, 66, 68, 110, 134, 141 Pyramidal Tracts, 119, 134 R Radiation, 50, 109, 115, 117, 118, 134, 135, 142 Radioactive, 31, 109, 121, 122, 129, 135 Randomized, 10, 15, 38, 135 Randomized clinical trial, 38, 135 Reagent, 106, 135, 137 Reality Testing, 134, 135 Receptor, 13, 14, 33, 66, 67, 70, 107, 112, 114, 117, 121, 124, 131, 135, 137 Recombination, 5, 6, 23, 38, 51, 135 Rectum, 110, 113, 116, 123, 124, 134, 135 Red blood cells, 118, 130, 135 Red Nucleus, 109, 135 Refer, 1, 125, 128, 129, 134, 135 Regeneration, 119, 135 Restriction Mapping, 23, 135 Retina, 112, 129, 130, 135, 136 Retinal, 69, 114, 130, 135 Retinitis, 66, 67, 135 Retinoblastoma, 88, 136 Retinol, 135, 136 Rigidity, 74, 130, 132, 136 Rod, 21, 131, 136

Index 149

S Salivary, 116, 130, 136 Salivary glands, 116, 136 Schizoid, 136, 142 Schizophrenia, 13, 44, 61, 69, 70, 136, 142 Schizotypal Personality Disorder, 136, 142 Sclerosis, 9, 68, 69, 74, 89, 136 Screening, 5, 36, 52, 68, 113, 136 Second Messenger Systems, 129, 136 Secretion, 117, 122, 124, 136 Secular trends, 43, 136 Segregation, 52, 135, 136 Seizures, 110, 116, 130, 136, 138 Semen, 134, 136 Sequence Homology, 131, 136 Sequencing, 132, 137 Serotonin, 108, 137 Sertraline, 46, 137 Sex Determination, 89, 137 Shock, 137, 140 Side effect, 105, 108, 137, 140 Silver Staining, 24, 137 Skeletal, 40, 117, 128, 137 Skeleton, 137 Sleep apnea, 137, 138 Smooth muscle, 110, 122, 137 Soma, 137 Somatic, 18, 36, 44, 52, 53, 125, 126, 127, 131, 133, 137 Somatic cells, 126, 127, 137 Sound wave, 114, 137 Spasm, 70, 137 Specialist, 96, 137 Species, 13, 25, 52, 113, 114, 118, 122, 126, 127, 136, 137, 138, 141, 142 Speech Intelligibility, 75, 137 Sperm, 5, 18, 23, 53, 112, 138, 141 Spinal cord, 9, 68, 70, 110, 111, 127, 128, 129, 131, 134, 138 Spinal Cord Injuries, 68, 138 Spinal Nerves, 131, 138 Sporadic, 38, 50, 128, 136, 138 Status Epilepticus, 66, 68, 138 Stimulus, 117, 119, 124, 125, 138 Stomach, 116, 118, 122, 128, 138 Stool, 123, 124, 138 Strand, 6, 132, 138 Stress, 6, 9, 109, 111, 128, 138 Striatum, 10, 138 Stroke, 62, 63, 66, 67, 68, 69, 84, 122, 129, 138 Strychnine, 70, 138

Subacute, 123, 138 Subarachnoid, 121, 138 Subclinical, 7, 123, 136, 138 Subiculum, 122, 138 Subspecies, 137, 138 Substrate, 11, 118, 138 Sympathomimetic, 117, 118, 129, 138 Symphysis, 134, 138 Symptomatic, 7, 30, 62, 106, 138, 139 Symptomatic treatment, 106, 139 Synapses, 129, 139 Synapsis, 139 Synaptic, 70, 139 Systemic, 110, 116, 118, 123, 139 T Tardive, 50, 108, 139 Telangiectasia, 89, 139 Telencephalon, 109, 139 Telomere, 14, 56, 139 Temporal, 106, 121, 122, 139 Thalamic, 41, 109, 139 Thalamic Diseases, 109, 139 Thalamus, 116, 125, 133, 139 Thermal, 132, 139 Threonine, 131, 139 Thrombin, 134, 139 Thrombomodulin, 134, 139 Thrombosis, 124, 134, 138, 140 Thyroid, 124, 140, 141 Tissue Culture, 128, 140 Tolerance, 66, 67, 105, 140 Tomography, 21, 54, 126, 140 Toxic, iv, 9, 78, 117, 118, 140 Toxicity, 8, 9, 140 Toxicology, 86, 140 Toxins, 107, 123, 140 Transcription Factors, 9, 10, 140 Transfection, 109, 140 Transgenes, 8, 140 Transmitter, 105, 117, 119, 124, 129, 139, 140 Transport Vesicles, 8, 140 Trauma, 66, 67, 116, 128, 129, 140 Tremor, 74, 130, 140 Trigger zone, 108, 140 Trinucleotide Repeat Expansion, 15, 140 Trinucleotide Repeats, 4, 141 Trophic, 128, 141 Tuberculosis, 124, 141 Tuberculostatic, 124, 141 Tuberous Sclerosis, 89, 141 Tubulin, 11, 141

150

Huntington Disease

Tumor marker, 109, 141 Tyrosine, 117, 141 U Ubiquitin, 7, 12, 141 Unconscious, 122, 141 Urethra, 134, 141 Urinary, 66, 67, 123, 141 Urine, 110, 121, 123, 141 V Vaccine, 134, 141 Vascular, 110, 112, 121, 123, 141 Vasculitis, 112, 141 Vasodilator, 107, 117, 122, 141 Vein, 108, 129, 141 Venous, 108, 111, 124, 134, 141 Venous blood, 111, 141 Ventral, 130, 132, 138, 141 Ventricle, 106, 122, 139, 141 Vertebrae, 138, 142 Veterinary Medicine, 85, 142 Vinblastine, 141, 142 Vincristine, 141, 142

Virulence, 140, 142 Virus, 111, 118, 120, 121, 142 Viscera, 137, 142 Vital Capacity, 10, 142 Vitro, 68, 142 Vivo, 142 Volition, 124, 142 Vomica, 138, 142 W White blood cell, 107, 125, 126, 142 Withdrawal, 66, 67, 116, 142 Wound Healing, 119, 142 Wounds, Gunshot, 138, 142 X Xenograft, 107, 142 X-ray, 113, 114, 129, 142 Y Yeasts, 131, 142 Z Zygote, 114, 127, 142 Zymogen, 134, 142

Index 151

152

Huntington Disease