Article
Gaucher-Associated Parkinsonism.
Cellular and molecular neurobiology - 1 Aug 2015
Li Yaqiong, Li Ping, Liang Huimin, Zhao Zhiquan, Hashimoto Makoto, Wei Jianshe
Abstract excerpt
Gaucher disease is associated with Parkinson's disease (PD) by mutations in glucocerebrosidase (GCase). The gene encoding GCase, glucosidase beta acid (GBA), is an important risk factor for PD. Findings from large studies have shown that patients with PD have an increased frequency of mutations in GBA and that GBA mutation carriers exhibit diverse parkinsonian phenotypes and Lewy body pathology. Although the...
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