患有脊髓小脑共济失调10型的巴西家庭的临床表型

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

作者信息

Teive H A G, Roa B B, Raskin S, Fang P, Arruda W O, Neto Y Correa, Gao R, Werneck L C, Ashizawa T

机构信息

Neurology Service, Federal University of Paraná, Curitiba, Brazil.

出版信息

Neurology. 2004 Oct 26;63(8):1509-12. doi: 10.1212/01.wnl.0000142109.62056.57.

DOI:10.1212/01.wnl.0000142109.62056.57

PMID:15505178

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

摘要

10型脊髓小脑共济失调（SCA10）是一种常染色体显性共济失调，由SCA10基因内含子中的ATTCT重复序列扩增引起。SCA10仅在墨西哥家族中被报道过，在这些家族中，该疾病表现为小脑共济失调和癫痫的组合。作者报告了来自五个巴西新家族的28例SCA10患者。所有28例患者均表现为小脑共济失调但无癫痫，这表明SCA10突变的表型表达在巴西和墨西哥家族中有所不同。