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

Citation
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
ISSN journal
00444588 → ACNP
Volume
100
Issue
1
Year of publication
2000
Pages
44 - 47
Database
ISI
SICI code
0044-4588(2000)100:1<44:SALSAW>2.0.ZU;2-#
Abstract
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.