All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. In this study, carried out by the ISN-CNR researchers, 169 unrelated ALS patients (eight familial ALS and 155 sporadic cases, 84 men and 79 women) from Southern Italy were investigated for the presence of this mutation. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation. Two out of three patients were familial cases and the remaining patient was an apparently sporadic case. The available members of one of the FALS cases were also screened. In this family, the research group identified an affected and an unaffected individual carrying the D90A mutation in homozygous and heterozygous state, respectively. According to previous data that reported for all D90A homozygous ALS patients a phenotype characterized by slow progression of the disease, also patients analyzed in this study show a mild phenotype with a prolonged survival. This study provides further evidence that D90A is an autosomal recessively inherited mutation in ALS patients in Southern Italy. Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. Amyotroph Lateral Scler. 2009 Feb;10(1):58-60.
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