Brockmann Kathrin, Srulijes Karin, Pflederer Sylvia, Hauser Ann-Kathrin, Schulte Claudia, Maetzler Walter, Gasser Thomas, Berg Daniela
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.
Mov Disord. 2015 Mar;30(3):407-11. doi: 10.1002/mds.26071. Epub 2014 Dec 1.
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.
This study was undertaken to evaluate progression of motor and non-motor symptoms in sporadic PD patients depending on the mutational GBA status.
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.
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.
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.
与无GBA突变的帕金森病（PD）患者相比，携带GBA突变的PD患者发病年龄更早，非运动症状更严重。
本研究旨在评估散发性PD患者根据GBA突变状态的运动和非运动症状进展情况。
我们使用回归分析来评估GBA突变状态、发病年龄、检查时年龄和病程对运动（统一帕金森病评定量表[UPDRS]-III、 Hoehn和Yahr[H&Y]分期、左旋多巴[L-多巴]等效剂量）和非运动特征（认知和情绪）的独立影响。前瞻性评估疾病进展3年。
与非突变PD患者相比，携带GBA突变的PD患者虽然更年轻且发病年龄更早，但显示出（1）运动障碍和认知衰退的疾病进展更快，以及（2）生存率降低。
在这个特定的PD患者亚组中，GBA突变状态而非年龄和发病年龄是疾病进展的重要预测因素。
