Cognitive and Motor Functioning in Elderly Glucocerebrosidase (GBA) Mutation Carriers


Mutations in the glucocerebrosidase (GBA) gene are a strong genetic risk factor for the development of Parkinson’s disease and dementia with Lewy Bodies. However the penetrance of GBA mutations is low for these diseases in heterozygous carriers. The aim of this study was to examine the relationship between mutation status and cognitive and motor functioning in a sample of community dwelling older adults. Using linear mixed effects models, we examined the effect of heterozygous mutation status on 736 community dwelling older adults (≥70 years) without dementia or Parkinson’s disease assessed over an average of 6 years, 28 of whom had a single GBA mutation (primarily N370S).📍

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