Glucocerebrosidase mutation, substrate accumulation, and susceptibility to Parkinson’s disease


  • Glucocerebrosidase (GBA) mutation carriers and individuals with Gaucher disease (GD) have similar susceptibility to developing Parkinson’s disease (PD), as indicated by substantia nigra hyperechogenicity.

Why this matters ?

  • The similar susceptibility to PD amongst individuals with GD, who have accumulated glycolipid substrates, and healthy GBA mutation carriers suggests substrate reduction therapy for PD lacks clinical benefit.