Supporting data for thesis "A Study of Glucocerebrosidase Gene Variants and Enzyme Activity in Parkinson's Disease"

This is the data supporting my thesis "A Study of Glucocerebrosidase Gene Variants and Enzyme Activity in Parkinson's Disease". The dataset contains demographics, clinical data, and genetic sequencing data of a cohort of patients with Parkinson's disease.Parkinson's disease (PD) is the most prevalent movement disorder, characterised by motor features of bradykinesia, rigidity, tremor, and gait impairment. In addition to motor features, a combination of non-motor symptoms (NMS), such as anxiety, depression, cognitive impairment, hyposmia, urinary, and gastrointestinal symptoms may be present. Mutations in the glucocerebrosidase gene (GBA) are the most common genetic risk factor for PD and cause depletion of the activity of the lysosomal enzyme glucocerebrosidase (GCase). Current evidence shows that clinical features in PD patients with GBA mutations present worse clinical features in terms of earlier age of onset, more frequent cognitive impairment, and higher prevalence of (NMS).While GCase level is significantly reduced in GBA carriers, and GBA mutation carriers show worse clinical features, it is open to question if lower GCase activity is also associated with worse clinical outcomes in PD.The aims of the current study are:To explore the prevalence of GBA variantsTo compare the level of GCase enzymatic activity between PD patients and healthy controlsTo study the association among GBA genetic variants, GCase enzymatic activity and clinical features in PD patients in Hong Kong

本数据集支持我的论文《帕金森病中葡萄糖脑苷脂酶基因变异及酶活性的研究》。该数据集包含了一组帕金森病患者的人口统计学、临床数据和遗传测序数据。帕金森病（PD）是最常见的运动障碍，以运动迟缓、肌张力增高、震颤和步态障碍为其典型特征。除了运动症状外，患者可能还会出现一系列非运动症状（NMS），如焦虑、抑郁、认知障碍、嗅觉减退、泌尿和胃肠道症状等。葡萄糖脑苷脂酶基因（GBA）突变是帕金森病最常见的遗传风险因素，导致溶酶体酶葡萄糖脑苷脂酶（GCase）活性下降。现有证据表明，携带GBA突变的帕金森病患者临床特征更差，表现为发病年龄更早、认知障碍更频繁以及非运动症状的发病率更高。尽管GCase水平在GBA携带者中显著降低，且GBA突变携带者临床特征更差，但GCase活性降低是否也与帕金森病更差的临床结果相关，尚存疑问。本研究旨在：探讨GBA变异的流行率；比较帕金森病患者与健康对照者之间GCase酶活性水平；研究香港帕金森病患者中GBA遗传变异、GCase酶活性和临床特征之间的关联。