Article
A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.
Muscle & nerve - 1 Oct 2010
Georgoulopoulou Eleni, Gellera Cinzia, Bragato Cinzia, Sola Patrizia, Chiari Annalisa, Bernabei Chiara, Mandrioli Jessica
Abstract excerpt
Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient...
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