Author:
Boukaftane Y.,Khoris J.,Moulard B.,Salachas F.,Meininger V.,Malafosse A.,Camu W.,Rouleau G.A.
Abstract
ABSTRACT:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SODl) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SODl mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.
Publisher
Cambridge University Press (CUP)
Subject
Neurology (clinical),Neurology,General Medicine
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