Effects of GBA variants on rapid eye movement sleep behavior disorder


  • 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.