title: Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
abstract: Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely short survival time. The mutation has been initially detected in Italian ALS families with common founder effect. However, in the Polish population the G41S mutation most probably originated from an independent mutation event, as indicated by haplotype analysis. Collected data support the hypothesis that a SOD1 mutation is not the sole factor determining the clinical ALS phenotype.
authors: Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, Warsaw, Poland.
authors: Mariusz
authors: M
authors: Berdyński
authors: Magdalena
authors: M
authors: Kuźma-Kozakiewicz
authors: Claudia
authors: C
authors: Ricci
authors: Justyna
authors: J
authors: Kubiszewska
authors: Stéphanie
authors: S
authors: Millecamps
authors: François
authors: F
authors: Salachas
authors: Anna
authors: A
authors: Łusakowska
authors: Paola
authors: P
authors: Carrera
authors: Vincent
authors: V
authors: Meininger
authors: Stefania
authors: S
authors: Battistini
authors: Hubert
authors: H
authors: Kwieciński
authors: Cezary
authors: C
authors: Zekanowski
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011044:Poland; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1