Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features

We refer to the article by Radunovic et al 1 and the kindred referred to in this article and in the article by Cleveland et al 2 as the Australian superoxide dismutase (SOD1) Gly37Arg familial amyotrophic lateral sclerosis (FALS) kindred. It did seem extraordinary that the same mutation should produce such different disease phenotypes in two separate continents. Investigations in Australia, subsequent to the publication of the paper by Cleveland et al ,2identified the mutation in this family as His43Arg, not Gly37Arg. The mutation was identified as H43R by …