PHENOTYPING

Background: To improve our understanding of the consequences of new profiling technologies and therapeutic interventions, it is important to adequately profile the clinical spectrum of patients with Parkinson’s disease (PD). The continued focus on motor problems, however, has distorted the view of the clinical spectrum of PD, which may also encompass features of the domains of cognitive dysfunction, depression/anxiety, sleep disruption/excessive daytime sleepiness, autonomic dysfunction, pain, and motor and psychiatric complications of therapy. To date, there is no thorough insight in the role, clinical course and interrelations of the different domains in PD. PD phenotype subgroups likely exist but cannot be recognized unless the full spectrum of the disease is assessed in a large group of patients. Fundamental to profiling the clinical expression of patients with PD is the need of high quality outcome measures that cover the broad clinical spectrum. To address this issue, the SCales for Outcomes in PArkinson's disease (SCOPA) program (1999-2003) developed clinimetric sound rating scales for all impairment and disability domains, and other global outcomes of PD. Hence, there now exists a unique opportunity to evaluate the clinical expression profile of patients with PD.

Hypothesis:

PD consists of subgroups of patients that display differences of content and progression of the clinical expression profile.

Study objectives:

To characterize the different impairment domains, their interrelations, determinants, and change over five years time, with the goal of identifying clinical expression profiles of subgroups of PD.

Study design:

A prospective cohort study.  

Material & Methods:

Yearly assessment with SCOPA impairment and disability modules. Recording of socio-demographics, age at onset, disease duration, familial history of PD and therapeutic interventions. 400 PD patients are stratified in 4 cohorts based on age at onset (< / > 50 years) and disease duration (< / >10 years). The first-year assessments started in 2003, and have all taken place.

Expected results:

Knowledge generated by this project can improve patient management and establishes a new framework for the evaluation of future therapeutic interventions, and translational research in PD.