Article
Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2020
Lopez Grisel, Steward Alta, Ryan Emory, Groden Catherine, Wiggs Edythe, Segalà Laura, Monestime Gianina M, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
BACKGROUND: Although the association between mutations in GBA1 and parkinsonism is well established, most GBA1 mutation carriers never develop parkinsonism, implicating the contribution of other genetic, epigenetic, and/or environmental modifiers. OBJECTIVES: To identify factors predisposing to or offering protection from parkinsonism among siblings with Gaucher's disease) discordant for Parkinson disease (PD)....
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