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.
BACKGROUND:Parkinson's disease (PD) patients with GBA mutations show an earlier age at onset and more severe non-motor symptoms compared with PDpatients without GBA mutations. OBJECTIVE: This study was undertaken to evaluate progression of motor and non-motor symptoms in sporadic PDpatients 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 PDpatients compared with non-mutation PDpatients, 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 PDpatients.
Authors: Jennifer Y Y Szeto; Courtney C Walton; Alexandra Rizos; Pablo Martinez-Martin; Glenda M Halliday; Sharon L Naismith; K Ray Chaudhuri; Simon J G Lewis Journal: NPJ Parkinsons Dis Date: 2020-01-07
Authors: Matthew Swan; Nancy Doan; Robert A Ortega; Matthew Barrett; William Nichols; Laurie Ozelius; Jeannie Soto-Valencia; Sarah Boschung; Andres Deik; Harini Sarva; Jose Cabassa; Brooke Johannes; Deborah Raymond; Karen Marder; Nir Giladi; Joan Miravite; William Severt; Rivka Sachdev; Vicki Shanker; Susan Bressman; Rachel Saunders-Pullman Journal: J Neurol Sci Date: 2016-08-30 Impact factor: 3.181
Authors: Laurie A Robak; Iris E Jansen; Jeroen van Rooij; André G Uitterlinden; Robert Kraaij; Joseph Jankovic; Peter Heutink; Joshua M Shulman Journal: Brain Date: 2017-12-01 Impact factor: 13.501
Authors: Gian D Pal; Deborah Hall; Bichun Ouyang; Jessica Phelps; Roy Alcalay; Michael W Pauciulo; William C Nichols; Lorraine Clark; Helen Mejia-Santana; Lucia Blasucci; Christopher G Goetz; Cynthia Comella; Amy Colcher; Ziv Gan-Or; Guy A Rouleau; Karen Marder Journal: Mov Disord Clin Pract Date: 2016-01-18