Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.

Abstract:

:Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Takahashi H,Makifuchi T,Nakano R,Sato S,Inuzuka T,Sakimura K,Mishina M,Honma Y,Tsuji S,Ikuta F

doi

10.1007/BF00294513

subject

Has Abstract

pub_date

1994-01-01 00:00:00

pages

185-8

issue

2

eissn

0001-6322

issn

1432-0533

journal_volume

88

pub_type

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