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

22 Sept 2016

Abstract excerpt

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 progression rates. METHODS: A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median,...

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PMID: 27717005
DOI: 10.1002/ana.24781

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