GBA gene variants increase the risk for isolated rapid-eye-movement (REM)-sleep behavior disorder (iRBD) and may be associated with earlier age at onset of iRBD and conversion to overt neurodegenerative disease.
Why this matters
Isolated REM sleep behavior disorder (iRBD) is considered a prodromal synucleinopathy because >80% of iRBD patients will eventually develop an α-synuclein accumulation-associated neurodegenerative syndrome such as Parkinson’s disease (PD) or dementia with Lewy bodies (DLB).
Variants in GBA, the gene encoding the lysosomal enzyme glucocerebrosidase, are implicated in the risk of iRBD and other neurological disorders.
Early identification of GBA variant status could potentially impact the treatment of iRBD and associated neurodegeneration syndromes.