Clinical and MRI findings in spinocerebellar ataxia type 5

被引：58

作者：

Stevanin, G

Herman, A

Brice, A

Dürr, A

机构：

[1] Hop La Pitie Salpetriere, INSERM, U289, F-75651 Paris 13, France

[2] Hop La Pitie Salpetriere, Federat Neurol, F-75651 Paris, France

来源：

NEUROLOGY | 1999年 / 53卷 / 06期

关键词：

spinocerebellar ataxia type 5; linkage; autosomal dominant cerebellar ataxia; chromosome; 11; cerebellar atrophy; anticipation;

D O I：

10.1212/WNL.53.6.1355

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of President Abraham Lincoln. We report a second, apparently unrelated, SCA5 family of French origin. The overall clinical picture was a slowly progressive cerebellar syndrome beginning mostly in the third decade (27 +/- 10 years, range 14 to 40). MRI showed a marked global cerebellar atrophy similar to SCA6.

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页码：1355 / 1357

页数：3

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