N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: No evidence for disease causation

被引：15

作者：

Mayeux, V

Corcia, P

Besson, G

Jafari-Schluep, HF

Briolotti, V

Camu, W ^{[1
]}

机构：

[1] CHU Montpellier, Hop Gui De Chauliac, Federat Neurol, F-34295 Montpellier 5, France

[2] Inst Biol, Equipe Clin & Genet Malad Motoneurone U336, Montpellier, France

[3] CHU Tours, Neurol Serv, Tours, France

[4] CHU Grenoble, Serv Neurol, F-38043 Grenoble, France

来源：

ANNALS OF NEUROLOGY | 2003年 / 53卷 / 06期

关键词：

D O I：

10.1002/ana.10605

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a group of 331 sporadic amyotrophic lateral sclerosis (ALS) cases, we identified a new Cu/Zn superoxide dismutase single base substitution, N19S, in two patients. In the first case, seven healthy family members of 15 carried the substitution. Controls (n = 268) and familial ALS index cases (n = 180) were screened and one control subject with N19S was identified. Our data show that, despite a possible role of susceptibility factor for ALS, N19S alone cannot be considered as a direct cause for the disease.

引用

页码：815 / 818

页数：4

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