True sporadic ALS associated with a novel SOD-1 mutation

被引：84

作者：

Alexander, MD

Traynor, BJ

Miller, N

Corr, B

Frost, E

McQuaid, S

Brett, FM

Green, A

Hardiman, O

机构：

[1] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland

[2] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

[3] St James Hosp, Dublin, Ireland

[4] Motor Neuron Dis Asoc Ireland, Dublin, Ireland

[5] Beaumont Hosp, Dept Neuropathol, Dublin, Ireland

[6] Univ Coll Dublin, Conway Inst, Dept Med Genet, Dublin 2, Ireland

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 05期

关键词：

D O I：

10.1002/ana.10369

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 Cu/Zn superoxide dismutase gene (SOD-1) arc reported in 20% of familial amyotrophic lateral sclerosis (ALS) cases, but no definite report of a mutation in a "truly" sporadic case of ALS has been proved. We present the first case of a novel SOD-1 mutation in a patient with genetically proven sporadic ALS. This mutation (H80A) is believed to alter zinc ligand binding, and its functional significance correlates well with the aggressive clinical course and postmortem findings observed in this patient.

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页码：680 / 683

页数：4

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