Reed Xylena, Schumacher-Schuh Artur, Hu Jing, Bandres-Ciga Sara
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Room 1A-211, Bethesda, MD 20892-3707, USA.
Serviço de Neurologia, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-003, Brazil.
J Pers Med. 2021 Mar 1;11(3):169. doi: 10.3390/jpm11030169.
Parkinson's disease (PD) is a condition with heterogeneous clinical manifestations that vary in age at onset, rate of progression, disease course, severity, motor and non-motor symptoms, and a variable response to antiparkinsonian drugs. It is considered that there are multiple PD etiological subtypes, some of which could be predicted by genetics. The characterization and prediction of these distinct molecular entities provides a growing opportunity to use individualized management and personalized therapies. Dissecting the genetic architecture of PD is a critical step in identifying therapeutic targets, and genetics represents a step forward to sub-categorize and predict PD risk and progression. A better understanding and separation of genetic subtypes has immediate implications in clinical trial design by unraveling the different flavors of clinical presentation and development. Personalized medicine is a nascent area of research and represents a paramount challenge in the treatment and cure of PD. This manuscript summarizes the current state of precision medicine in the PD field and discusses how genetics has become the engine to gain insights into disease during our constant effort to develop potential etiological based interventions.
帕金森病（PD）是一种临床表现具有异质性的疾病，其发病年龄、进展速度、病程、严重程度、运动和非运动症状各不相同，对抗帕金森病药物的反应也存在差异。人们认为存在多种帕金森病病因亚型，其中一些可以通过遗传学进行预测。对这些不同分子实体的特征描述和预测为采用个体化管理和个性化治疗提供了越来越多的机会。剖析帕金森病的遗传结构是确定治疗靶点的关键步骤，遗传学是对帕金森病风险和进展进行亚分类和预测的一个进步。更好地理解和区分遗传亚型通过揭示不同的临床表现和发展情况，对临床试验设计具有直接影响。精准医学是一个新兴的研究领域，是帕金森病治疗和治愈面临的一项重大挑战。本手稿总结了帕金森病领域精准医学的现状，并讨论了在我们不断努力开发基于潜在病因的干预措施的过程中，遗传学如何成为深入了解疾病的驱动力。
