Glucocerebrosidase gene gross deletion and Parkinson’s disease pathology in a Japanese family

Takeaway

  • While mutation of the glucocerebrosidase gene (GBA) is associated with Parkinson’s disease (PD), a direct correlation of glucocerebrosidase (GCase) activity with PD progression could not be proven in a Japanese family with GBA mutations.

Why this matters

  • This study highlights the complicated mechanisms underly GBA-associated PD, indicating that genetic factors other than GBA mutation affect pathological development of GBA-associated PD.