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Clinical and genetic epidemiology of Parkinson's disease: focus on disease progression and non-motor symptoms.
Parkinson's disease (PD) is the second most common neurodegenerative brain disorder. Five causal genes (SNCA, LRRK2, PARK2, PINK1 and DJ1) leading to familial PD have already been identified. Variations in these genes have also been shown to increase susceptibility for sporadic PD. In my project, I am prospectively recruiting a population of familial and sporadic PD patients. Detailed phenotypic characterization of the patients is performed with standardized clinical scales at different time intervals. Genetic variations (simple and complex mutations) in the known causal genes will be identified and genotype-phenotype correlations will be established. Since disease progression is an important part of the phenotypic variability of PD, these correlations will focus on clinical features associated with disease progression, non-motor symptoms and motor complications. Genetic association studies will be conducted to identify new genetic risk factors for PD. In informative families new causal PD genes will be identified using a positional cloning strategy. The combination of objective and longitudinal clinical data on disease progression in a genetically well-characterized population of PD patients, is a major asset of the project.
Date:1 Oct 2009 → 30 Sep 2011
Keywords:PARKINSONS DISEASE, EPIDEMIOLOGY, NEUROLOGY
Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Public health care, Public health sciences, Public health services, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing