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Titolo:
A NOVEL SOD1 MUTATION IN AN AUSTRIAN FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS
Autore:
BEREZNAI B; WINKLER A; BORASIO GD; GASSER T;
Indirizzi:
UNIV MUNICH,KLINIKUM GROSSHADERN,DEPT NEUROL,MARCHIONINISTR 15 D-81377 MUNICH GERMANY UNIV MUNICH,KLINIKUM GROSSHADERN,DEPT NEUROL D-81377 MUNICH GERMANY
Titolo Testata:
Neuromuscular disorders
fascicolo: 2, volume: 7, anno: 1997,
pagine: 113 - 116
SICI:
0960-8966(1997)7:2<113:ANSMIA>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUPEROXIDE-DISMUTASE ACTIVITY; MOTOR-NEURON DISEASE; GENE;
Keywords:
AMYOTROPHIC LATERAL SCLEROSIS; AUTOSOMAL-DOMINANT INHERITANCE; SUPEROXIDE DISMUTASE GENE; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
14
Recensione:
Indirizzi per estratti:
Citazione:
B. Bereznai et al., "A NOVEL SOD1 MUTATION IN AN AUSTRIAN FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS", Neuromuscular disorders, 7(2), 1997, pp. 113-116

Abstract

We report on an Austrian pedigree with autosomal dominant amyotrophiclateral sclerosis (ALS), diagnosed in six patients from two generations. The only surviving clinically affected family member was examined in our ALS clinic. Historical information on other affected individuals was obtained from knowledgeable family members. The mean +/- S.D. age of onset of the disease was 54 +/- 6.9 years, with a range of 43-66 years. The duration of;he index patient's disease until death was 8 months. Using single strand conformational polymorphism (SSCP) analysis,we studied the index patient's exons 1, 2 and 4 of the Cu/Zn superoxide dismutase gene (SODI) on chromosome 21. A variant banding pattern was observed for exon 1. Sequencing studies showed a previously undescribed T to A missense mutation at position 8 in exon 1 of the SOD1 gene. This mutation results in the elimination of an Eco57I restriction site. Whereas the index patient was heterozygous for this restriction site, 50 unrelated healthy controls and an unaffected brother were not. The mutation lies in a region involved in dimer contact in the three-dimensional structure of the SOD1 protein. This region comprises other known sites for ALS-causing mutations. (C) 1997 Elsevier Science B.V.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 23:54:28