Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Liu, Ganqiang; Boot, Brendon; J. Locascio, Joseph; E. Jansen, Iris; Winder‐Rhodes, Sophie; Eberly, Shirley; Elbaz, Alexis; Brice, Alexis; Ravina, Bernard; J. van Hilten, Jacobus; Cormier‐Dequaire, Florence; Corvol, Jean‐Christophe; A. Barker, Roger; Heutink, Peter; Marinus, Johan; H. Williams‐Gray, Caroline; R. Scherzer, Clemens

doi:10.1002/ana.24781

Public

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Published in Annals of Neurology • Sep 22, 2016

Authors:

Ganqiang Liu

Brendon Boot

Joseph J. Locascio

Abstract

OBJECTIVE: We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progres...

Subject

Glucocerebrosidase

Cognitive decline

Medicine

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