A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS

Mitsuya Morita; Koji Abe; Mitsu Takahashi; Yoshiaki Onodera; Hitoshi Okumura; Masaaki Niino; Kunio Tashiro; Imaharu Nakano; Yasuto Itoyama

doi:10.1046/j.1468-1331.1998.540389.x

A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS

Mitsuya Morita, Koji Abe, Mitsu Takahashi, Yoshiaki Onodera, Hitoshi Okumura, Masaaki Niino, Kunio Tashiro, Imaharu Nakano, Yasuto Itoyama

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

Abstract

We have identified a novel mutation in exon 4 of the Cu/Zn superoxide dismutase (superoxide dismutase 1: SOD1) gene (GAG to GTC), which resulted in an Asp⁹⁰ to Val substitution in a Japanese family with amyotrophic lateral sclerosis (ALS) inherited as an autosomal dominant trait. The patients in this family usually died in 2-3 years without sensory or urinary impairment. The SOD1 activity was lower in the proband as compared to the normal controls. The clinical characteristics of this family resemble those of some patients heterozygous for the Asp90Ala mutation, but both the clinical features and SOD1 activity of this family differ from those of patients homozygous for the ASP90Ala mutation.

Original language	English
Pages (from-to)	389-392
Number of pages	4
Journal	European Journal of Neurology
Volume	5
Issue number	4
DOIs	https://doi.org/10.1046/j.1468-1331.1998.540389.x
Publication status	Published - Jan 1 1998

Keywords

Amyotrophic lateral sclerosis
Asp90Val
FALS
Missense mutation
Superoxide dismutase

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1046/j.1468-1331.1998.540389.x

Cite this

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abstract = "We have identified a novel mutation in exon 4 of the Cu/Zn superoxide dismutase (superoxide dismutase 1: SOD1) gene (GAG to GTC), which resulted in an Asp90 to Val substitution in a Japanese family with amyotrophic lateral sclerosis (ALS) inherited as an autosomal dominant trait. The patients in this family usually died in 2-3 years without sensory or urinary impairment. The SOD1 activity was lower in the proband as compared to the normal controls. The clinical characteristics of this family resemble those of some patients heterozygous for the Asp90Ala mutation, but both the clinical features and SOD1 activity of this family differ from those of patients homozygous for the ASP90Ala mutation.",

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AU - Morita, Mitsuya

AU - Abe, Koji

AU - Takahashi, Mitsu

AU - Onodera, Yoshiaki

AU - Okumura, Hitoshi

AU - Niino, Masaaki

AU - Tashiro, Kunio

AU - Nakano, Imaharu

AU - Itoyama, Yasuto

PY - 1998/1/1

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AB - We have identified a novel mutation in exon 4 of the Cu/Zn superoxide dismutase (superoxide dismutase 1: SOD1) gene (GAG to GTC), which resulted in an Asp90 to Val substitution in a Japanese family with amyotrophic lateral sclerosis (ALS) inherited as an autosomal dominant trait. The patients in this family usually died in 2-3 years without sensory or urinary impairment. The SOD1 activity was lower in the proband as compared to the normal controls. The clinical characteristics of this family resemble those of some patients heterozygous for the Asp90Ala mutation, but both the clinical features and SOD1 activity of this family differ from those of patients homozygous for the ASP90Ala mutation.

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KW - Asp90Val

KW - FALS

KW - Missense mutation

KW - Superoxide dismutase

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A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS

Abstract

Keywords

ASJC Scopus subject areas

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