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

Phenomics. 2022 May 21;2(5):349-361. doi: 10.1007/s43657-022-00051-4. eCollection 2022 Oct.

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.

Keywords: Deep phenotyping; Motor symptoms; Non-motor symptoms; Parkinson’s disease.

Publication types

  • Review