Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis

被引：45

作者：

Kress, JA

Kühnlein, P

Winter, P

Ludolph, AC

Kassubek, J

Müller, U

Sperfeld, AD

机构：

[1] Univ Ulm, Dept Neurol, D-89081 Ulm, Germany

[2] Univ Giessen, Dept Human Genet, Giessen, Germany

来源：

ANNALS OF NEUROLOGY | 2005年 / 58卷 / 05期

关键词：

D O I：

10.1002/ana.20665

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553de1A). Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers.

引用

页码：800 / 803

页数：4

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