Natural history of Huntington disease.
Identifieur interne : 000832 ( PubMed/Curation ); précédent : 000831; suivant : 000833Natural history of Huntington disease.
Auteurs : E Ray Dorsey [États-Unis] ; Christopher A. Beck [États-Unis] ; Kristin Darwin [États-Unis] ; Paige Nichols [États-Unis] ; Alicia F D. Brocht [États-Unis] ; Kevin M. Biglan [États-Unis] ; Ira Shoulson [États-Unis]Source :
- JAMA neurology [ 2168-6157 ] ; 2013.
English descriptors
- KwdEn :
- Adult, Aged, Australia, Canada, Cognition Disorders (etiology), Cohort Studies, Disability Evaluation, Disease Progression, Female, Humans, Huntingtin Protein, Huntington Disease (complications), Male, Mental Disorders (etiology), Middle Aged, Movement Disorders (etiology), Nerve Tissue Proteins (genetics), Retrospective Studies, Severity of Illness Index, Trinucleotide Repeats (genetics), United States.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- chemical : Huntingtin Protein.
- complications : Huntington Disease.
- etiology : Cognition Disorders, Mental Disorders, Movement Disorders.
- genetics : Trinucleotide Repeats.
- Adult, Aged, Australia, Canada, Cohort Studies, Disability Evaluation, Disease Progression, Female, Humans, Male, Middle Aged, Retrospective Studies, Severity of Illness Index, United States.
Abstract
Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials.
DOI: 10.1001/jamaneurol.2013.4408
PubMed: 24126537
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Three hundred thirty-four individuals with clinically manifest Huntington disease who had at least 3 years of annually accrued longitudinal data and 142 controls consisting of caregivers and spouses who had no genetic risk of Huntington disease.</AbstractText><AbstractText Label="MAIN OUTCOMES AND MEASURES" NlmCategory="METHODS">Change in movement, cognition, behavior, and function as measured by the Unified Huntington's Disease Rating Scale, the Mini-Mental State Examination, and vital signs.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Total motor score worsened by 3.0 points (95% CI, 2.5-3.4) per year and chorea worsened by 0.3 point per year (95% CI, 0.1-0.5). Cognition declined by 0.7 point (95% CI, 0.6-0.8) per year on the Mini-Mental State Examination. Behavior, as measured by the product of frequency and severity score on the Unified Huntington's Disease Rating Scale, worsened by 0.6 point per year (95% CI, 0.0-1.2). Total functional capacity declined by 0.6 point per year (95% CI, 0.5-0.7). Compared with controls, baseline body mass index was lower in those with Huntington disease (25.8 vs 28.8; P < .001), and average pulse was higher (74.2 vs 69.6 beats/min; P < .001).</AbstractText><AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">Over 3 years, the cardinal features of Huntington disease all declined in a monotonic manner. These data quantify the natural history of the disease and may inform the design of trials aimed at reducing its burden.</AbstractText><AbstractText Label="TRIAL REGISTRATION" NlmCategory="BACKGROUND">clinicaltrials.gov Identifier: NCT00313495.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dorsey</LastName><ForeName>E Ray</ForeName><Initials>ER</Initials><AffiliationInfo><Affiliation>Department of Neurology, Johns Hopkins Medicine, Baltimore, Maryland6now with the University of Rochester Medical Center, Rochester, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Beck</LastName><ForeName>Christopher A</ForeName><Initials>CA</Initials><AffiliationInfo><Affiliation>Department of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Darwin</LastName><ForeName>Kristin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurology, Johns Hopkins Medicine, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nichols</LastName><ForeName>Paige</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Neurology, Johns Hopkins Medicine, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brocht</LastName><ForeName>Alicia F D</ForeName><Initials>AF</Initials><AffiliationInfo><Affiliation>Center for Human Experimental Therapeutics, University of Rochester Medical Center, Rochester, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Biglan</LastName><ForeName>Kevin M</ForeName><Initials>KM</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Rochester Medical Center, Rochester, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shoulson</LastName><ForeName>Ira</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neurology, Georgetown University Medical Center, Washington, DC.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>Huntington Study Group COHORT Investigators</CollectiveName></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN="Y"><DataBank><DataBankName>ClinicalTrials.gov</DataBankName><AccessionNumberList><AccessionNumber>NCT00313495</AccessionNumber></AccessionNumberList></DataBank></DataBankList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016448">Multicenter Study</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>JAMA Neurol</MedlineTA><NlmUniqueID>101589536</NlmUniqueID><ISSNLinking>2168-6149</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C086055">HTT protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000071058">Huntingtin Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Nat Rev Neurol. 2014 Jan;10(1):12-3</RefSource><PMID Version="1">24323048</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001315" MajorTopicYN="N">Australia</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002170" MajorTopicYN="N">Canada</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003072" MajorTopicYN="N">Cognition Disorders</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004185" MajorTopicYN="N">Disability Evaluation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018450" MajorTopicYN="Y">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000071058" MajorTopicYN="N">Huntingtin Protein</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006816" MajorTopicYN="N">Huntington Disease</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001523" MajorTopicYN="N">Mental Disorders</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009069" MajorTopicYN="N">Movement Disorders</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" 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