Cognitive, Motor, and Psychological Functioning of Non-Manifesting Glucocerebrosidase Carriers
Mutations in the glucocerbrosidase (GBA) gene are a strong genetic risk factor for the development of Parkinson's disease and dementia with Lewy Bodies. Individuals with GBA related Parkinson's disease are at increased risk for non-motor symptoms, including cognitive decline. For heterozygous carriers, the penetrance is reduced, and less is known about the burden of carrying a single mutation among non-manifesting heterozygous carriers. The aim of this study was to assess the impact of carrying a single GBA mutation on those not currently affected by PD or DLB, through a comprehensive assessment of motor and non-motor functioning among GBA non-manifesting carriers and mutation negative controls. This study found that GBA carriers performed worse than controls on a measure of inhibitory control, and were more likely to exhibit abnormality in motor functioning, when controlling for age. Carriers also reported more symptoms of REM Sleep Behavior Disorder than controls. In summary, the findings suggest that absent clinical disease, differences, albeit mild, between carriers and mutation negative peers are evident on motor and non-motor domains.
Moran, Eileen E, "Cognitive, Motor, and Psychological Functioning of Non-Manifesting Glucocerebrosidase Carriers" (2020). ETD Collection for Fordham University. AAI28024161.