SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist

被引：13

作者：

Corcia, P

Khoris, J

Couratier, P

Mayeux-Portas, V

Bieth, E

de Toffol, B

Autret, A

Müh, JP

Andres, C

Camu, W

机构：

[1] CHRU Bretonneau, Neurol Clin, Dept Neurol, F-37044 Tours, France

[2] INSERM, U316, Tours, France

[3] INSERM, U336, Dept Neurol, Montpellier, France

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

[5] CHRU Dupuytren, Dept Neurol, Limoges, France

[6] CHRU Purpan, Dept Med Genet, Toulouse, France

来源：

NEUROLOGY | 2002年 / 59卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000032500.73621.C5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinal muscular atrophy (SMA) is caused by SMN1 gene deletions or mutations, and ALS is the most frequent motor neuron condition in adults. The authors describe three families in which ALS and SMA coexist. The authors found that no SOD1 mutation was found within these families; all three ALS cases had at least two SMN1 copies; and an abnormal SMN1 gene locus did not explain the co-occurrence of these two motor neuron disorders in these families.

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页码：1464 / 1466

页数：3

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