The largest monocentric study on sex distribution, penetrance, incidence, and association with dementia of GBA mutations in Parkinson's disease

Abstract

Background: Despite GBA mutations are considered the most frequent genetic risk factor for Parkinson's disease (PD), uncertainty still exists on their impact on PD risk. Our objective is to provide, for the first time, an accurate mutation-specific estimate of penetrance, incidence, sex distribution, and association with dementia of the four most common PD-associated GBA variants.