title: Leukocyte glucocerebrosidase and β-hexosaminidase activity in sporadic and genetic Parkinson disease.
abstract: 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 β-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 β-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.
  
  
  CONCLUSIONS
  The glucocerebrosidase and β-hexosaminidase activities in PBLs cannot be used as a biomarker in sPD and other genetic parkinsonism.
authors.affiliation: Department of Neurology and Movement Disorder Center, Parkinson Study Group, and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, South Korea.
authors.forename: Han-Joon
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Neurology and Movement Disorder Center, Parkinson Study Group, and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, South Korea. Electronic address: brain@snu.ac.kr.
authors.forename: Beomseok
authors.initials: B
authors.lastname: Jeon
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
authors.forename: Junghan
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Neurology, Eulji General Hospital, Seoul, South Korea.
authors.forename: Woong-Woo
authors.initials: WW
authors.lastname: Lee
authors.affiliation: Department of Neurology and Movement Disorder Center, Parkinson Study Group, and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, South Korea.
authors.forename: Hyeyoung
authors.initials: H
authors.lastname: Park
authors.affiliation: Department of Neurology and Movement Disorder Center, Parkinson Study Group, and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, South Korea.
authors.forename: Chae-Won
authors.initials: CW
authors.lastname: Shin
mesh_terms: D015415:Biomarkers / Q000097:blood; D005962:Glucosylceramidase / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D010300:Parkinson Disease / Q000097:blood* / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000097:blood*
chemical_list: D015415:Biomarkers; D005962:Glucosylceramidase; D001619:beta-N-Acetylhexosaminidases
keywords: Gaucher disease; Leukocyte; Parkinson disease; β-Glucocerebrosidase; β-hexosaminidase