A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.

Abstract:

:The highest prevalence rate of spinocerebellar ataxia type 6 (SCA6) in the worldwide population is in the Chugoku and Kansai areas of Western Japan, but the reason of this geographic characteristics is unclear. We investigated the predisposing haplotypes and their geographic distribution. Genotyping of five microsatellite markers and three single nucleotide polymorphisms linked to the CACNA1A gene in 150 Japanese SCA6 patients from unrelated 118 families revealed three major haplotypes, carrying a pool of one common haplotype core. A founder chromosome was thought to have historically diverged into at least three types. One of the major haplotypes newly identified showed a strong geographical cluster around the Seto Inland Sea in the Chugoku and Kansai areas of Western Japan, whereas the others were widely distributed throughout Japan. The distribution of predisposing haplotypes contributes to the geographical differences in prevalence of SCA6.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Terasawa H,Oda M,Morino H,Miyachi T,Izumi Y,Maruyama H,Matsumoto M,Kawakami H

doi

10.1016/j.neulet.2004.01.007

keywords:

subject

Has Abstract

pub_date

2004-03-25 00:00:00

pages

107-10

issue

2

eissn

0304-3940

issn

1872-7972

pii

S0304394004000485

journal_volume

358

pub_type

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