SPINOCEREBELLAR ATAXIA TYPE 6 IN BRAZIL

被引：15

作者：

Teive, Helio A. G. ^{[1
]}

Munhoz, Renato Puppi ^{[1
]}

Raskin, Salmo ^{[2
]}

Werneck, Lineu Cesar ^{[1
]}

机构：

[1] Univ Fed Parana, Hosp Clin, Neurol Serv, Movement Disorders Unit, BR-80060000 Curitiba, Parana, Brazil

[2] Genetika Lab, Curitiba, Parana, Brazil

来源：

ARQUIVOS DE NEURO-PSIQUIATRIA | 2008年 / 66卷 / 3B期

关键词：

spinocerebelar ataxia type 6; autosomal dominant cerebellar ataxia; pure cerebellar ataxia; CACNA1A gene;

D O I：

10.1590/S0004-282X2008000500015

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.

引用

页码：691 / 694

页数：4

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