Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

被引：26

作者：

Gamez, J

Barceló, MJ

Muñoz, X

Carmona, F

Cuscó, I

Baiget, M

Cervera, C

Tizzano, EF

机构：

[1] Hosp Gen Valle Hebron, Dept Neurol, Barcelona 08035, Spain

[2] Hosp Gen Valle Hebron, Dept Pneumol, Barcelona 08035, Spain

[3] Hosp Santa Creu & Sant Pau, Dept Genet, Tarragona, Spain

[4] Univ Barcelona, Dept Stat, E-08007 Barcelona, Spain

来源：

NEUROLOGY | 2002年 / 59卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000032496.64510.4E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The presence of the SMN2 deletion in 124 patients with ALS was investigated. Eleven patients had the homozygous deletion of SMN2 (8.8%) in comparison with 20 of 200 (10%) of the healthy control population. No significant differences in sex, age at onset, initial symptoms, form of inheritance, decline in ventilatory function, or survival time were found between patients with and without the deletion. The hypothesis that SMN2 is a prognostic factor in sporadic or familial ALS was not confirmed in this study.

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页码：1456 / 1460

页数：5

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