Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

Mariusz Berdyński, Magdalena Kuźma-Kozakiewicz, Claudia Ricci, Justyna Kubiszewska, Stéphanie Millecamps, François Salachas, Anna Łusakowska, Paola Carrera, Vincent Meininger, Stefania Battistini, Hubert Kwieciński, Cezary Zekanowski

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 1223% 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.

Original languageEnglish
Pages (from-to)132-136
Number of pages5
JournalAmyotrophic Lateral Sclerosis
Volume13
Issue number1
DOIs
Publication statusPublished - Jan 2012

Keywords

  • Amyotrophic lateral sclerosis
  • Cu/Zn superoxide dismutase
  • Mutation
  • Recurrent
  • SOD1

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Fingerprint Dive into the research topics of 'Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family'. Together they form a unique fingerprint.

Cite this