Article
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.
Parkinsonism & related disorders - 1 Dec 2008
Remes A M, Hinttala R, Kärppä M, Soini H, Takalo R, Uusimaa J, Majamaa K
Abstract excerpt
Parkinsonism has been described in patients with mutations in POLG1 gene. The W748S mutation is one of the most common mutations in this gene and it has been found to be a frequent cause of autosomal recessive ataxia in adults and the Alpers syndrome in children. We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy,...
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