日本鸟取县脊髓小脑共济失调的遗传流行病学研究。
A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan.
作者信息
Mori M, Adachi Y, Kusumi M, Nakashima K
机构信息
Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
出版信息
Neuroepidemiology. 2001 May;20(2):144-9. doi: 10.1159/000054775.
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.
我们在日本鸟取县613,349名居民中开展了一项基于社区的患病率研究，调查脊髓小脑共济失调（SCA）患者的基因型频率。患病率数据统计时间为1998年4月1日。在该日，此社区共识别出109例SCA患者。SCA的患病率为每10万人中有17.8例。遗传性SCA最常见的病因是SCA6位点的突变（25%），其次是SCA1位点的突变（15%）、SCA3位点的突变（5%）和齿状核红核苍白球路易体萎缩位点的突变（5%）。在SCA2、SCA7或弗里德赖希共济失调中未发现任何扩增等位基因。SCA6的突变也是散发性SCA最常见的形式，占11%。每10万人中的患病率如下：SCA6为2.40；SCA1为0.48；齿状核红核苍白球路易体萎缩（DRPLA）为0.32，SCA3为0.16。
Zotero 插件