背景:葡糖脑苷脂酶(GBA)基因突变是目前发现的帕金森病(PD)最常见的遗传危险因素,在大约5-14%的白种人患者中发现。
目的:我们旨在使用标准化和验证的量表评估GBA相关PD(GBA-PD)患者与特发性PD(iPD)患者的运动和非运动症状(NMS)。
方法:11(4米,7F)GBA-PD患者和22iPD患者,从同一队列中选择并匹配性别,年龄,和疾病持续时间,已注册。疾病严重程度通过统一帕金森病评定量表-第三节评估,步态障碍和跌倒冻结步态问卷,和运动波动,通过磨损问卷。使用以下量表评估NMS:迷你精神状态检查和扩展的神经心理电池,如果需要,非运动症状量表,SCOPA-AUT问卷,冷漠评估量表,贝克抑郁量表,Epworth嗜睡量表,不宁腿综合征评定量表,快速眼动睡眠行为障碍筛查问卷,帕金森氏病中冲动-强迫症的问卷。
结果:GBA-PD患者表现出更严重和快速进展的疾病,更频繁的PD阳性家族史,运动-刚性表型,姿势不稳定,痴呆症,与IPD相比,精神病。三名携带L444P突变的受试者中有两名表现出早期痴呆。我们还发现了更高的疲劳发生率,昼夜嗜睡,和不耐受热/冷的载体组。
结论:我们的结果证实,与iPD相比,GBA-PD患者中NMS和更严重和更快的病程发生频率更高。
BACKGROUND: Mutations of the Glucocerebrosidase (GBA) gene are the most common genetic risk factor yet discovered for Parkinson\'s Disease (PD), being found in about 5-14% of Caucasian patients.
OBJECTIVE: We aimed to assess motor and non-motor symptoms (NMS) in patients with GBA-related PD (GBA-PD) in comparison with idiopathic PD (iPD) subjects using standardized and validated scales.
METHODS: Eleven (4 M, 7 F) patients with GBA-PD and 22 iPD patients, selected from the same cohort and matched for gender, age, and disease duration, were enrolled. The disease severity was assessed by Unified Parkinson\'s Disease Rating Scale-section III, gait disorder and falls by Freezing of Gait Questionnaire, and motor fluctuations by Wearing off questionnaire. NMS were evaluated using the following scales: Mini-Mental State Examination and extended neuropsychological battery, if required, Non-Motor Symptoms Scale, SCOPA-AUT Questionnaire, Apathy Evaluation Scale, Beck Depression Inventory, Epworth Sleepiness Scale, Restless Legs Syndrome Rating Scale, REM Sleep Behavior Disorder Screening Questionnaire, and Questionnaire for Impulsive-Compulsive Disorders in Parkinson\'s disease.
RESULTS: GBA-PD patients showed a more severe and rapidly progressive disease, and more frequent positive family history for PD, akinetic-rigid phenotype, postural instability, dementia, and psychosis in comparison to iPD. Two of three subjects carrying L444P mutation presented with early dementia. We also found a higher occurrence of fatigue, diurnal sleepiness, and intolerance to heat/cold in the carriers group.
CONCLUSIONS: Our results confirm that NMS and a more severe and faster disease course more frequently occur among GBA-PD patients in comparison to iPD.