A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

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

Institution:	Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980–77, Japan;Department of Neurology, Hokkaido University School of Medicine, Kita-ku, Sapporo 060, Japan;Department of Neurology, Jichi Medical School, 3311-1 Minamikawachi-machi, Tochigi 329–04, Japan

Abstract:	We have identified a novel mutation in exon 4 of the Cu/Zn superoxide dismutase (superoxide dismutase 1: SOD1) gene (GAC 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.

Keywords:	amyotrophic lateral sclerosis FALS missense mutation superoxide dismutase Asp90Val