Document Detail

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.
MedLine Citation:
PMID:  8583215     Owner:  NLM     Status:  MEDLINE    
Machado-Joseph disease (MJD) is caused by abnormal expansion of an unstable CAG repeat in a novel gene locating on chromosome 14q32.1. We analysed this CAG repeat polymorphism with 66 Japanese MJD patients. All the patients were selectively associated with abnormal expansion of the CAG repeat. Repeat length of the mutant allele did not overlap that of normal allele and closely correlated with not only age at onset but also with clinical phenotypes. CAG repeat size is apparently related to a wide variety of phenotypic presentations in MJD.
H Sasaki; A Wakisaka; T Fukazawa; K Iwabuchi; T Hamada; A Takada; E Mukai; T Matsuura; T Yoshiki; K Tashiro
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  133     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1995 Nov 
Date Detail:
Created Date:  1996-03-19     Completed Date:  1996-03-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  128-33     Citation Subset:  IM    
Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
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MeSH Terms
Age of Onset
Base Sequence
Chromosomes, Human, Pair 14
Machado-Joseph Disease / genetics*
Middle Aged
Molecular Sequence Data
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid*
Sex Characteristics*

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