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.

Key words::

• Amyotrophic lateral sclerosis
• Cu/Zn superoxide dismutase
• SOD1
• mutation
• recurrent

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Acknowledgements

We acknowledge the Association pour la Recherche sur la Sclérose latérale amyotrophique et autres maladies du motoneurone, ARSla, France and Association française contre les myopathies, AFM, France) (SM, FS, VM). The study was supported by grants PNRF-204-AI-1/07 (HK, MK-K, JK, AL) and N N402 373539 (MK-K) from the Ministry of Science and Higher Education of Poland.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.