Document Detail


Phenotypic heterogeneity in Huntington disease.
MedLine Citation:
PMID:  6242167     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two Huntington disease (HD) pedigrees are presented which differ according to mean and distribution of the age at onset, the effect of paternal transmission on the age at onset, presence of manic-depressive symptoms, and type of presenting symptoms. Together with previous reports, the data suggest clinical heterogeneity between HD kindreds which may imply some kind of genetic heterogeneity, most likely subsequent mutation at a single HD locus. The possibility of genetic heterogeneity has important consequences, both in research, and in the counseling and care of families and patients with differing manifestations of the disease.
Authors:
S E Folstein; M H Abbott; M L Franz; S Huang; G A Chase; M F Folstein
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of neurogenetics     Volume:  1     ISSN:  0167-7063     ISO Abbreviation:  J. Neurogenet.     Publication Date:  1984 Apr 
Date Detail:
Created Date:  1985-08-23     Completed Date:  1985-08-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8406473     Medline TA:  J Neurogenet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  175-84     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Age Factors
Aged
Alcoholism / genetics
Family Characteristics
Female
Heterozygote Detection
Humans
Huntington Disease / diagnosis,  genetics*,  psychology
Male
Middle Aged
Pedigree
Phenotype
Sex Factors
Grant Support
ID/Acronym/Agency:
P01-NS-16375/NS/NINDS NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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