Sporadic amyotrophic lateral sclerosis associated with Asp90Ala CuZn-superoxide dismutase mutations in Russia

16 blood samples from Russian patients (Moscow) with idiopathic motor neuro n disease were analysed for mutations in the CuZn-superoxide dismutase gene . Two patients (12,5%) with amyotrophic lateral sclerosis (ALS) were found to have a disease related mutation. One patient appears to have autosomal r ecessive adult-onset ALS associated with homozygosity for Asp90Ala and pres ents the characteristic phenotype of very slowly ascending paresis with bot h lower and upper motor neuron signs. The other patient heterozygous for As p90Ala presents ALS with lumbar onset and rapid progression. Both of cases are apparently sporadic.