Article
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
Molecular genetics and metabolism - 1 Dec 2019
Goldstein Orly, Gana-Weisz Mali, Cohen-Avinoam Danielle, Shiner Tamara, Thaler Avner, Cedarbaum Jesse M, John Sally, Lalioti Maria, Gurevich Tanya, Bar-Shira Anat, Mirelman Anat, Giladi Nir, Orr-Urtreger Avi
Abstract excerpt
BACKGROUND: GBA variants are the most common genetic risk factors for Parkinson's disease (PD) world-wide, and can be found in up to 20% of Ashkenazi PD patients. The E326K variant, which is not considered a Gaucher's disease causing mutation, was recently shown to increase the risk for PD. Since E326K is a common variant among Europeans, Finnish and Ashkenazi (2.4, 8.6 and 1.2% carrier rate, respectively), we...
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