Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder
Parkinsonism & Related Disorders Mar 15, 2018
Gamez-Valero A, et al. - Experts aspired to investigate the possibility of overrepresentation of glucocerebrosidase (GBA) variants in idiopathic REM sleep behavior disorder (IRBD). Furthermore, they determined if their presence shortened the time to conversion to clinically-defined Lewy body disorders (LBD). It was determined that in IRBD, GBA variants were more frequent compared to controls and were related to impending Parkinson's disease (PD) and dementia with Lewy bodies (DLB). However, these were not indicative of a short-term risk of LBD after IRBD diagnosis. Herein, analysis of IRBD patients carrying GBA variants could be performed with disease-modifying interventions focusing on restoring the GBA metabolic pathway.
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