No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

被引：11

作者：

Broom, WJ

Parton, MJ

Vance, CA

Russ, C

Andersen, PM

Hansen, V

Leigh, PN

Powell, JF

Al-Chalabi, A

Shaw, CE ^{[1
]}

机构：

[1] Guys Kings & St Thomass Sch Med, Dept Med & Mol Genet, London SE1 9RT, England

[2] Inst Psychiat, Dept Neurol, London SE5 8AF, England

[3] Inst Psychiat, Dept Neurosci, London SE5 8AF, England

[4] Umea Univ, Dept Neurol, S-90187 Umea, Sweden

来源：

NEUROLOGY | 2004年 / 63卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000147264.60349.EB

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the copper zinc superoxide dismutase gene (SOD1) are found in 20% of familial and 3% of sporadic ALS patients. SOD1 protein aggregation can be detected in motor neurons of mutation-negative sporadic cases but a pathogenic role for wild-type SOD1 in ALS has not been demonstrated. In this study of 233 ALS cases and 248 controls the authors found no significant association between four individual single nucleotide polymorphisms and a deletion spanning the SOD1 locus (or their combined haplotypes), and disease susceptibility, or phenotype.

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页码：2419 / 2422

页数：4

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