Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia

Twenty blood samples from Russian patients (Moscow) with idiopathic motor n eurone disease were analysed for mutations in the Cu,Zn superoxide dismutas e (Cu,Zn SOD) gene. Two patients (10%) with the amyotrophic lateral scleros is (ALS) form of the disease were found to have a disease-related mutation. One patient appears to have autosomal recessive adult-onset ALS associated with homozygosity for D90A and presents the characteristic phenotype of ve ry slowly ascending paresis with both lower and upper motor neurone signs. Another patient, heterozygous for D90A, presents ALS with lumbar onset and rapid progression. This is the first report of a Cu,Zn SOD mutation in ALS in Russia.