Article
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Brain : a journal of neurology - 1 Jul 2009
Neumann Juliane, Bras Jose, Deas Emma, O'Sullivan Sean S, Parkkinen Laura, Lachmann Robin H, Li Abi, Holton Janice, Guerreiro Rita, Paudel Reema, Segarane Badmavady, Singleton Andrew, Lees Andrew, Hardy John, Houlden Henry, Revesz Tamas, Wood Nicholas W
Abstract excerpt
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease. In this study, we evaluated the frequency of GBA mutations in British patients affected by...
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