Mutations for Gaucher disease confer high susceptibility to Parkinson disease

J Mitsui, I Mizuta, A Toyoda, R Ashida… - Archives of …, 2009 - jamanetwork.com
Background Increased frequency of pathogenic variants inGBA, the causative gene for
Gaucher disease, has been suggested to be associated with Parkinson disease (PD).
Objectives To conduct comprehensive resequencing ofGBAto identify all sequence variants
and to investigate the association of these variants with PD. Design Case-control study.
Setting Multicenter university-based study. Participants Five hundred thirty-four patients with
PD, 34 families in which multiple patients with PD are present, and 544 control subjects …
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