A NOVEL MUTATION ASP90VAL IN THE SOD1 GENE ASSOCIATED WITH JAPANESE FAMILIAL ALS

We have identified a novel mutation in exon 4 of the Cu/Zn superoxide dismutase (superoxide dismutase 1: SOD1) gene (GAC to GTC), which resu lted in an Asp(90) to Val substitution in a Japanese family with amyot rophic lateral sclerosis (ALS) inherited as an autosomal dominant trai t. The patients in this family usually died in 2-3 years without senso ry or urinary impairment. The SOD1 activity was lower in the proband a s compared to the normal controls. The clinical characteristics of thi s family resemble those of some patients heterozygous for the Asp90Ala mutation, but both the clinical features and SOD1 activity of this fa mily differ from those of patients homozygous for the ASP90Ala mutatio n, Eur J Neurol 5:389-392 (C) 1998 Lippincott-Raven Publishers.