Article
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Brain : a journal of neurology - 1 Sept 2015
Alcalay Roy N, Levy Oren A, Waters Cheryl C, Fahn Stanley, Ford Blair, Kuo Sheng-Han, Mazzoni Pietro, Pauciulo Michael W, Nichols William C, Gan-Or Ziv, Rouleau Guy A, Chung Wendy K, Wolf Pavlina, Oliva Petra, Keutzer Joan, Marder Karen, Zhang Xiaokui
Abstract excerpt
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease in GBA carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (n = 517) and controls (n = 252) with and without GBA...
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