title: GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study.
abstract: BACKGROUND
  Parkinson's disease (PD) patients with GBA mutations show an earlier age at onset and more severe non-motor symptoms compared with PD patients without GBA mutations.
  
  
  OBJECTIVE
  This study was undertaken to evaluate progression of motor and non-motor symptoms in sporadic PD patients depending on the mutational GBA status.
  
  
  METHODS
  We used regression analysis to evaluate independent effects of the mutational GBA status, age at onset, age at examination, and disease duration on motor (Unified Parkinson's Disease Rating Scale [UPDRS]-III, Hoehn and Yahr [H&Y] stage, Levodopa [L-dopa]-equivalent-dosage) and non-motor characteristics (cognition and mood). Disease progression was assessed prospectively over 3 years.
  
  
  RESULTS
  The GBA-associated PD patients compared with non-mutation PD patients, although younger and with an earlier age at onset, show (1) a more rapid disease progression of motor impairment and cognitive decline and (2) reduced survival rates.
  
  
  CONCLUSIONS
  The mutational GBA status, rather than older age and age at onset, presents an important predictor for disease progression in this specific subgroup of PD patients.
authors.affiliation: Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Graduate School of Cellular & Molecular Neuroscience, Tübingen, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Brockmann
authors.forename: Karin
authors.initials: K
authors.lastname: Srulijes
authors.forename: Sylvia
authors.initials: S
authors.lastname: Pflederer
authors.forename: Ann-Kathrin
authors.initials: AK
authors.lastname: Hauser
authors.forename: Claudia
authors.initials: C
authors.lastname: Schulte
authors.forename: Walter
authors.initials: W
authors.lastname: Maetzler
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000401:mortality*; D012044:Regression Analysis
chemical_list: D005962:Glucosylceramidase
keywords: GBA; Parkinson; dementia; progression; survival