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Titolo:
Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia
Autore:
Skvortsova, VI; Limborska, SA; Slominsky, PA; Levitskaya, NI; Levitsky, GN; Shadrina, MI; Kondratyeva, EA;
Indirizzi:
Russian State Med Univ, Dept Neurol Lab & Funct Diagnost, Moscow 117437, Russia Russian State Med Univ Moscow Russia 117437 gnost, Moscow 117437, Russia Russian Acad Sci, Inst Mol Genet, Moscow 123182, Russia Russian Acad Sci Moscow Russia 123182 t Mol Genet, Moscow 123182, Russia
Titolo Testata:
EUROPEAN JOURNAL OF NEUROLOGY
fascicolo: 2, volume: 8, anno: 2001,
pagine: 167 - 172
SICI:
1351-5101(200103)8:2<167:SAAWTD>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYOTROPHIC-LATERAL-SCLEROSIS; MOTOR-NEURON DISEASE; SOD1 MUTATION; GENE; IDENTIFICATION; HETEROGENEITY; HOMOZYGOSITY; PENETRANCE;
Keywords:
Cu,Zn SOD mutation; D90A; motor neurone disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Skvortsova, VI City Hosp 20, 129327,Lenskaya Str 15,Block 3, Moscow, Russia City Hosp 20 129327,Lenskaya Str 15,Block 3 Moscow Russia
Citazione:
V.I. Skvortsova et al., "Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia", EUR J NEUR, 8(2), 2001, pp. 167-172

Abstract

Twenty blood samples from Russian patients (Moscow) with idiopathic motor neurone disease were analysed for mutations in the Cu,Zn superoxide dismutase (Cu,Zn SOD) gene. Two patients (10%) with the amyotrophic lateral sclerosis (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 very slowly ascending paresis with both lower and upper motor neurone signs. Another patient, heterozygous for D90A, presents ALS with lumbar onset andrapid progression. This is the first report of a Cu,Zn SOD mutation in ALSin Russia.

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Documento generato il 28/11/20 alle ore 04:28:42