CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype

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. Repea...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the neurological sciences 1995-11, Vol.133 (1), p.128-133
Main Authors: Sasaki, Hidenao, Wakisaka, Akemi, Fukazawa, Toshiyuki, Iwabuchi, Kiyoshi, Hamada, Takeshi, Takada, Akio, Mukai, Eiichiro, Matsuura, Tohru, Yoshiki, Takashi, Tashiro, Kunio
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Alleles
Base Sequence
Biological and medical sciences
CAG repeat
Chromosomes, Human, Pair 14
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Hereditary ataxia
Humans
Japan
Machado-Joseph disease
Machado-Joseph Disease - genetics
Male
Medical sciences
Middle Aged
Molecular Sequence Data
Mutation
Neurology
Parents
Phenotype
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
SCA3
Sex Characteristics
Triplet repeat disorder
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0022-510X
1878-5883
DOI:10.1016/0022-510X(95)00175-2