title: Presenting symptoms of GBA-related Parkinson's disease.
abstract: BACKGROUND
  Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD).
  
  
  OBJECTIVE
  To explore whether presenting symptoms differ between PD-GBA and sPD patients.
  
  
  METHODS
  Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants.
  
  
  RESULTS
  39 PD patients (6.7%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3%) than in the sPD group (3.0%) (chi square p = 0.039; logistic regression analysis OR = 3.74; p = 0.024).
  
  
  CONCLUSIONS
  Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA.
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Nikola
authors.initials: N
authors.lastname: Kresojević
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Milena
authors.initials: M
authors.lastname: Janković
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Igor
authors.initials: I
authors.lastname: Petrović
authors.affiliation: Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW, Australia.
authors.forename: Kishore R
authors.initials: KR
authors.lastname: Kumar
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Nataša
authors.initials: N
authors.lastname: Dragašević
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Valerija
authors.initials: V
authors.lastname: Dobričić
authors.affiliation: Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Ivana
authors.initials: I
authors.lastname: Novaković
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Marina
authors.initials: M
authors.lastname: Svetel
authors.affiliation: Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.affiliation: Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Pekmezović
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address: vladimir.s.kostic@gmail.com.
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
mesh_terms: D000368:Aged; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010146:Pain / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D010300:Parkinson Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D005962:Glucosylceramidase
keywords: Glucocerebrosidase; Pain; Parkinson's disease; Presenting symptom