Title
Deep Phenotyping of Parkinson's Disease
Date Issued
01 January 2020
Access level
open access
Resource Type
review
Author(s)
Dorsey E.R.
Omberg L.
Waddell E.
Adams J.L.
Adams R.
Ali M.R.
Amodeo K.
Arky A.
Augustine E.F.
DInesh K.
Hoque M.E.
Glidden A.M.
Jensen-Roberts S.
Kabelac Z.
Katabi D.
Kieburtz K.
Kinel D.R.
Little M.A.
Myers T.
Riggare S.
Rosero S.Z.
Saria S.
Schifitto G.
Schneider R.B.
Sharma G.
Shoulson I.
Stevenson E.A.
Tarolli C.G.
Luo J.
McDermott M.P.
University of Rochester
Publisher(s)
IOS Press
Abstract
Phenotype is the set of observable traits of an organism or condition. While advances in genetics, imaging, and molecular biology have improved our understanding of the underlying biology of Parkinson's disease (PD), clinical phenotyping of PD still relies primarily on history and physical examination. These subjective, episodic, categorical assessments are valuable for diagnosis and care but have left gaps in our understanding of the PD phenotype. Sensors can provide objective, continuous, real-world data about the PD clinical phenotype, increase our knowledge of its pathology, enhance evaluation of therapies, and ultimately, improve patient care. In this paper, we explore the concept of deep phenotyping - the comprehensive assessment of a condition using multiple clinical, biological, genetic, imaging, and sensor-based tools - for PD. We discuss the rationale for, outline current approaches to, identify benefits and limitations of, and consider future directions for deep clinical phenotyping.
Start page
855
End page
873
Volume
10
Issue
3
Language
English
OCDE Knowledge area
Neurología clínica
Patología
Subjects
Scopus EID
2-s2.0-85089129921
PubMed ID
Source
Journal of Parkinson's Disease
ISSN of the container
18777171
Sponsor(s)
Suchi Saria has received research support from American Heart Association, Child Health Imprints, Defense Advanced Research Projects Agency, National Institutes of Health/National Institute of Neurological Disorders and Stroke, and National Science Foundation.
Karl Kieburtz has served as a consultant to Black-fynn, Clintrex, Genentech/Roche, and Novartis. He has received research support from National Institutes of Health (National Institute of Neurological Disorders and Stroke and National Center for Advancing Translational Sciences) and Michael J. Fox Foundation. Dr. Kieburtz has ownership interests in Clintrex, Hoover Brown LLC, and Safe Therapuetics.
Erika Augustine has served as a consultant to Biomarin Pharma, Neurogene, Regenxbio, and Beyond Batten Disease Foundation. She has received research support from Abeona Therapeutics, Neu-rogene, and National Institutes of Health/National Institute of Neurological Disorders and Stroke. Dr. Augustine has served as central rater for a clinical trial funded by Signant Health.
Sources of information:
Directorio de Producción Científica
Scopus