Leukocyte glucocerebrosidase and β-hexosaminidase activity in sporadic and genetic Parkinson disease

Background: Recent reports have shown that the activities of lysosomal enzymes are altered in the CNS of sporadic PD (sPD) without GBA mutations. We hypothesized that the activities of lysosomal enzymes are altered in peripheral blood leukocytes (PBLs) of patients with sPD and other genetic parkinsonism. Methods: Glucocerebrosidase and beta-hexosaminidase activities in PBLs were measured in 36 patients with sPD, 5 PD patients with PARK2 mutations, 10 patients with spinocerebellar ataxia (SCA) 17 with parkinsonism, and 20 healthy controls. Results: The glucocerebrosidase and beta-hexosaminidase activities were not different in patients with sPD, PD with PARK2 mutations, and SCA17 with parkinsonism from those of the controls. In the patients with sPD, the activity of GCase was positively correlated with disease duration. Conclusion: The glucocerebrosidase and beta-hexosaminidase activities in PBLs cannot be used as a biomarker in sPD and other genetic parkinsonism. (C) 2015 Elsevier Ltd. All rights reserved.