A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

Autosomal-dominant familial amyotrophic lateral sclerosis (FALS) is associa ted with mutation in the gene that encodes Cu/Zn superoxide dismutase (SOD1 ). We identified a novel missense mutation of SOD-1 (Cys6Gly) in exon 1 in a Japanese woman and her family. The illness showed rapid progression simil arly to the FALS with a mutation of Cys6Phe that was reported by Morita et al. (1996) (Morita, M., Aoki, M., Abe, K., Hasegawa, T., Sakuma, R., Onoder a, Y., Ichikawa, N., Nishizawa, M, and Itoyama, Y., A novel two-base mutati on in the Cu/Zn superoxide dismutase gene associated with familiar amyotrop hic lateral sclerosis in Japan. Neurosci. Lett., 205 (1996) 79-82). Mutatio n of the cystein at amino acid 6 might be associated with the rapid progres sion of ALS. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.