Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

被引：87

作者：

Corcia, P

Mayeux-Portas, V

Khoris, J

de Toffol, B

Autret, A

Müh, JP

Camu, W

Andres, C

机构：

[1] INSERM, U316, F-37032 Tours, France

[2] Neurol Clin, Tours, France

[3] INSERM, U336, Genet Unit Motor Neuron Dis, Montpellier, France

来源：

ANNALS OF NEUROLOGY | 2002年 / 51卷 / 02期

关键词：

D O I：

10.1002/ana.10104

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies), compared with 4% of controls. Am abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.

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页码：243 / 246

页数：4

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