巴西10型脊髓小脑共济失调的历史：一个基因的传播历程。

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene.

作者信息

Teive Hélio A G, Arruda Walter O, Raskin Salmo, Ashizawa Tetsuo, Werneck Lineu César

机构信息

Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, Curitiba, PR, Brazil.

出版信息

Arq Neuropsiquiatr. 2007 Dec;65(4A):965-8. doi: 10.1590/s0004-282x2007000600008.

DOI:10.1590/s0004-282x2007000600008

PMID:18094855

Abstract

The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.

摘要

作者报告了脊髓小脑共济失调10型（SCA10）的病史，从其在一个具有常染色体显性纯小脑共济失调的葡萄牙裔大家族中的首次报告，到最终确定其他无墨西哥血统的家族。这些家族呈现出与在墨西哥描述的SCA10家族截然不同的表型。