Vi. Skvortsova et al., Sporadic amyotrophic lateral sclerosis associated with Asp90Ala CuZn-superoxide dismutase mutations in Russia, ZH NEVR PS, 100(1), 2000, pp. 44-47
Citations number
55
Categorie Soggetti
Neurology
Journal title
ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
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.