Deep Clinical Phenotyping of Parkinson's Disease: Towards a New Era of Research and Clinical Care.

IF 3.7 Q2 GENETICS & HEREDITY Phenomics (Cham, Switzerland) Pub Date : 2022-05-21 eCollection Date: 2022-10-01 DOI:10.1007/s43657-022-00051-4
Zhiheng Xu, Bo Shen, Yilin Tang, Jianjun Wu, Jian Wang
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引用次数: 2

Abstract

Despite recent advances in technology, clinical phenotyping of Parkinson's disease (PD) has remained relatively limited as current assessments are mainly based on empirical observation and subjective categorical judgment at the clinic. A lack of comprehensive, objective, and quantifiable clinical phenotyping data has hindered our capacity to diagnose, assess patients' conditions, discover pathogenesis, identify preclinical stages and clinical subtypes, and evaluate new therapies. Therefore, deep clinical phenotyping of PD patients is a necessary step towards understanding PD pathology and improving clinical care. In this review, we present a growing community consensus and perspective on how to clinically phenotype this disease, that is, to phenotype the entire course of disease progression by integrating capacity, performance, and perception approaches with state-of-the-art technology. We also explore the most studied aspects of PD deep clinical phenotypes, namely, bradykinesia, tremor, dyskinesia and motor fluctuation, gait impairment, speech impairment, and non-motor phenotypes.

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帕金森病的深层临床表型:迈向研究和临床护理的新时代。
尽管技术取得了最新进展,但帕金森病(PD)的临床表型仍然相对有限,因为目前的评估主要基于临床的经验观察和主观分类判断。缺乏全面、客观和可量化的临床表型数据阻碍了我们诊断、评估患者病情、发现发病机制、确定临床前阶段和临床亚型以及评估新疗法的能力。因此,对PD患者进行深入的临床表型分析是了解PD病理和改善临床护理的必要步骤。在这篇综述中,我们就如何在临床上对这种疾病进行表型,即通过将能力、表现和感知方法与最先进的技术相结合,对疾病进展的整个过程进行表型,提出了越来越多的社区共识和观点。我们还探索了PD深层临床表型研究最多的方面,即运动迟缓、震颤、运动障碍和运动波动、步态障碍、言语障碍和非运动表型。
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