Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2

被引：9

作者：

Adams, C

Starkman, S

Pulst, SM

机构：

[1] UNIV CALIF LOS ANGELES,SCH MED,CEDARS SINAI MED CTR,DIV NEUROL,LOS ANGELES,CA 90048

[2] UNIV CALIF LOS ANGELES,SCH MED,CEDARS SINAI MED CTR,DEPT NEUROL & EMERGENCY MED,LOS ANGELES,CA 90048

[3] UNIV CALIF LOS ANGELES,SCH MED,CEDARS SINAI MED CTR,BURNS & ALLEN RES INST,LOS ANGELES,CA 90048

来源：

NEUROLOGY | 1997年 / 49卷 / 04期

关键词：

D O I：

10.1212/WNL.49.4.1163

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe patients from five generations of a pedigree with mutations in the spinocerebellar ataxia type 2 gene (SCA2). The predominant clinical features observed included both appendicular and truncal ataxia, dysarthria, slowness of saccades, and impaired optokinetic responses. Successive generations demonstrated both earlier ages of onset as well as increasing numbers of trinucleotide repeat sequences. The signs found in this family are compared with the description of other families with SCA2 as well as with other types of dominantly inherited spinocerebellar ataxias.

引用

页码：1163 / 1166

页数：4

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