A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course |
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| Authors: | Eleni Georgoulopoulou MD Cinzia Gellera PhD Cinzia Bragato MSc Patrizia Sola PhD Annalisa Chiari MD Chiara Bernabei MD Jessica Mandrioli MD |
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| Institution: | 1. Department of Neurology, Nuovo Ospedale Civile S. Agostino Estense, Via Giardini 1355, 41126 Modena, Italy;2. Unit of Gentics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS‐Istituto Neurologico Carlo Besta, Milano, Italy |
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| Abstract: | 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 with ALS and an unusually slow disease progression. Muscle Nerve, 2010 |
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| Keywords: | amyotrophic lateral sclerosis atypical natural history D11Y slow progression SOD1 mutation |
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