Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, United States.
Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, United States.
Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1(Suppl 1):S15-S18. doi: 10.1016/j.parkreldis.2017.07.021. Epub 2017 Jul 22.
First described 200 years ago, Parkinson Disease (PD) exhibits considerable heterogeneity in clinical presentation, as well as trajectory of motor and non-motor decline. This heterogeneity, in turn, complicates the planning of clinical research, particularly trials of disease-modifying therapies, as well as the care of PD patients. While clinical features have been used to delineate subgroups of PD patients, clinical subtyping is hampered by change in features over time, and clinical subtyping may fail to capture the biological processes underlying heterogeneity. In contrast, biomarkers - objective measures that serve as indicators of normal biological processes, pathogenic processes, or pharmacologic responses to therapeutic interventions - have promise to delineate molecularly-defined subgroups of PD patients who may be most likely to benefit from specific therapeutic interventions. Here we review the present role of genetic and biochemical biomarkers in PD. Moreover, we highlight areas where the use of biomarkers may benefit clinical trial planning, as well as clinical care through the application of a "precision medicine" approach, in the near term.
帕金森病（PD）在 200 年前首次被描述，其临床表现以及运动和非运动功能下降的轨迹存在很大的异质性。这种异质性反过来又使临床研究的规划变得复杂，特别是在疾病修饰治疗的试验中，以及 PD 患者的护理方面。虽然临床特征已被用于描绘 PD 患者的亚组，但由于特征随时间的变化，临床亚型划分受到阻碍，而且临床亚型划分可能无法捕捉到异质性背后的生物学过程。相比之下，生物标志物——作为正常生物学过程、发病过程或药物治疗反应的指标的客观测量——有望描绘出最有可能从特定治疗干预中获益的分子定义的 PD 患者亚组。在这里，我们回顾了遗传和生化标志物在 PD 中的现有作用。此外，我们强调了在近期通过应用“精准医学”方法，在临床试验规划以及临床护理方面使用生物标志物可能带来的益处的领域。
