Article
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2013
Duran Raquel, Mencacci Niccolo E, Angeli Aikaterini V, Shoai Maryam, Deas Emma, Houlden Henry, Mehta Atul, Hughes Derralynn, Cox Timothy M, Deegan Patrick, Schapira Anthony H, Lees Andrew J, Limousin Patricia, Jarman Paul R, Bhatia Kailash P, Wood Nicholas W, Hardy John, Foltynie Tom
Abstract excerpt
BACKGROUND: Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD. METHODS: One hundred and eighty-five PD patients (with an onset age of ≤50) and...
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