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LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease

2020-09-24 neurology Title + abstract only
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Background and objectivesThe LRRK2 p.G2019S Parkinsons disease (PD) variant is associated with elevated glucocerebrosidase (GCase) activity in peripheral blood. We aimed to evaluate the association of other LRRK2 variants with PD and its association with GCase activity. MethodsLRRK2 and GBA were fully sequenced in 1,123 PD patients and 576 controls from the Columbia and PPMI cohorts, in which GCase activity was measured in dried blood spots by liquid chromatography-tandem mass spectrometry. Re...

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