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

Journal of the Neurological Sciences
H SasakiK Tashiro

Abstract

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.

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Apr 5, 2008·Rinshō shinkeigaku = Clinical neurology·Tohru Matsuura
Jul 16, 2015·Brain : a Journal of Neurology·Mafalda RaposoManuela Lima
Jul 2, 2019·Genetics and Molecular Biology·Raphael Machado de CastilhosUNKNOWN RedeNeurogenética
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