Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis

被引：46

作者：

Rooke, K

Figlewicz, DA

Han, FY

Rouleau, GA

机构：

[1] MCGILL UNIV,MONTREAL GEN HOSP,DEPT NEUROL,CTR RES NEUROSCI,MONTREAL,PQ H3G 1A4,CANADA

[2] UNIV ROCHESTER,MED CTR,DEPT NEUROL,ROCHESTER,NY 14642

来源：

NEUROLOGY | 1996年 / 46卷 / 03期

关键词：

D O I：

10.1212/WNL.46.3.789

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We examined the neurofilament heavy subunit (NEFH) as a candidate gene for familial amyotrophic lateral sclerosis. We screened the KSP repeat region of the NEFH gene in 117 unrelated individuals who inherited familial amyotrophic lateral sclerosis as an autosomal trait but who do not have the mutation at the SOD1 locus, and we found no variants in any individual. We conclude that the motor neuron degeneration observed in non-SOD1 familial amyotrophic lateral sclerosis is not due to mutations in the KSP repeat of the NEFH gene.

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页码：789 / 790

页数：2

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