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February 01, 1994; 44 (2) Brief Communications

SOD1 missense mutation in an Italian family with ALS

I. Rainero, L. Pinessi, T. Tsuda, M. G. Vignocchi, G. Vaula, L. Calvi, P. Cerrato, B. Rossi, L. Bergamini, D. R. Crapper McLachlan, P. H. St. George-Hyslop
First published February 1, 1994, DOI: https://doi.org/10.1212/WNL.44.2.347
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Abstract

We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean ± SD age of onset of the disease was 46.8 ± 13.5 years, with a range of 29 to 63 years. The mean ± SD duration of the disease was 11.6 ± 1.7 months. Molecular genetic studies showed a missense mutation (Gly→Ser, codon 41) in exon 2 of the Cu/Zn superoxide dismutase gene (SOD1) on chromosome 21 in the available affected member and in 45% of the at-risk subjects of the pedigree. This study confirms the presence of SOD1 point mutations in families with autosomal-dominant ALS and suggests that additional genetic or environmental factors may be involved in the full expression of the disease.

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