The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, NYU Langone Health, New York, NY 10017, USA.
Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Cells. 2019 Apr 19;8(4):364. doi: 10.3390/cells8040364.
Parkinson's disease (PD) is the second most common degenerative disorder. Although the disease was described more than 200 years ago, its pathogenetic mechanisms have not yet been fully described. In recent years, the discovery of the association between mutations of the gene (encoding for the lysosomal enzyme glucocerebrosidase) and PD facilitated a better understating of this disorder. mutations are the most common genetic risk factor of the disease. However, mutations of this gene can be found in different phenotypes, such as Gaucher's disease (GD), PD, dementia with Lewy bodies (DLB) and rapid eye movements (REM) sleep behavior disorders (RBDs). Understanding the pathogenic role of this mutation and its different manifestations is crucial for geneticists and scientists to guide their research and to select proper cohorts of patients. Moreover, knowing the implications of the mutation in the context of PD and the other associated phenotypes is also important for clinicians to properly counsel their patients and to implement their care. With the present review we aim to describe the genetic, clinical, and therapeutic features related to the mutation of the gene.
帕金森病（PD）是第二常见的退行性疾病。尽管这种疾病早在 200 多年前就被描述过，但它的发病机制尚未完全阐明。近年来，发现 基因突变（编码溶酶体酶葡萄糖脑苷脂酶）与 PD 之间存在关联，这有助于更好地理解这种疾病。 突变是该疾病最常见的遗传风险因素。然而，这种基因的突变可以在不同的表型中发现，如戈谢病（GD）、PD、路易体痴呆（DLB）和快速眼动（REM）睡眠行为障碍（RBD）。了解这种突变的致病作用及其不同表现对于遗传学家和科学家指导他们的研究和选择合适的患者队列至关重要。此外，了解 PD 和其他相关表型中 突变的影响对临床医生为患者提供适当的咨询和实施护理也很重要。通过本综述，我们旨在描述与 基因突变相关的遗传、临床和治疗特征。
