title: [Sporadic amyotrophic lateral sclerosis associated with Asp90Ala CuZn-superoxide dismutase mutations in Russia].
abstract: 16 blood samples from Russian patients (Moscow) with idiopathic motor neuron 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 recessive adult-onset ALS associated with homozygosity for Asp90Ala and presents the characteristic phenotype of very slowly ascending paresis with both lower and upper motor neuron signs. The other patient heterozygous for Asp90Ala presents ALS with lumbar onset and rapid progression. Both of cases are apparently sporadic.
authors.forename: V I
authors.initials: VI
authors.lastname: Skvortsova
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: N I
authors.initials: NI
authors.lastname: Levitskaia
authors.forename: G N
authors.initials: GN
authors.lastname: Levitskiĭ
authors.forename: M I
authors.initials: MI
authors.lastname: Shadrina
authors.forename: E A
authors.initials: EA
authors.lastname: Kondrat'eva
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009842:Oligopeptides / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D012426:Russia / Q000453:epidemiology; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism*
chemical_list: D009842:Oligopeptides; C431583:aspartyl-alanyl-histidyl-lysine; D013482:Superoxide Dismutase