A genetic epidemiological study of spinocerebellar ataxias in Tottori Prefecture, Japan

被引：21

作者：

Mori, M ^{[1
]}

Adachi, Y ^{[1
]}

Kusumi, M ^{[1
]}

Nakashima, K ^{[1
]}

机构：

[1] Tottori Univ, Fac Med, Inst Neurol Sci, Div Neurol, Yonago, Tottori 6838504, Japan

来源：

NEUROEPIDEMIOLOGY | 2001年 / 20卷 / 02期

关键词：

prevalence; phenotype; spinocerebellar ataxia; CAG repeat;

D O I：

10.1159/000054775

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

We investigated the genotype frequencies of patients with spinocerebellar ataxias (SCA), using a community-based prevalence study among 613,349 inhabitants in Tottori prefecture, Japan. Prevalence date was April 1, 1998. On this date, 109 SCA patients were identified in this community. The prevalence of SCA was 17.8 per 100,000 individuals. The most common cause of inherited SCA was a mutation at the SCA6 locus (25%), followed by mutation at the SCA1 locus (15%), SCA3 locus (5%) and dentatorubral-pallidoluysian atrophy locus (5%), None of the expanded alleles was found in SCA2, SCA7 or Friedreich's ataxia. Mutation at SCA6 was also the most common form of sporadic SCA at 11%. Prevalences per 100,000 individuals were as follows: SCA6, 2.40; SCA1, 0.48; DRPLA, 0.32, and SCA3, 0.16. Copyright (C) 2001 S. Karger AG, Basel.

引用

页码：144 / 149

页数：6

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