Status: Enrolling by invitation
Keywords: Parkinson's Disease , Movement Disorder , Family genetic
IRB Number: 00049741
Specialty: Neurology, Neurology, Neurology
Sub Specialties: Movement Disorders, Parkinson's Disease, Neurodegenerative Disorders
Parkinson disease (PD) is the second most common neurodegenerative disorder. In most instances, PD is thought to result from a complex interaction between multiple common genetic and environmental factors, each having a small effect. Preliminary data suggest that there might be genes that modify risk for developing cognitive dysfunction in PD, but no such “modifier” genes have been definitively established to date.
The purpose of the PaGeR Study is to identify new causal, risk, and modifier genes in PD. To do this, the study will compare the frequencies of genetic variants in patients with PD with those of their unaffected relatives and with unrelated healthy controls. The study will also compare the frequencies of genetic markers in PD patients with and without cognitive impairment. Identification of new PD-related genes will lead to a better understanding of the pathophysiology of the disease. Such knowledge is critically needed to develop more effective treatments for PD.
Specific Aim#1: To identify genes that increase a person’s risk of developing PD or a related disorder. Genes will be compared between patients with PD, their family members, and unrelated controls.
Hypothesis #1: Patients with PD will have detectable DNA alterations compared to non-PD patients.
Specific Aim#2: For PD patients, this study is also trying to find genes that increase the likelihood of developing certain PD-related problems such as cognitive deficit.
Hypothesis #2: Subtypes of PD patients (e.g., those with cognitive deficits) will have differences in their genetic make-up (e.g., those without cognitive deficits)
Principle Investigator: David Shprecher
Principle Department: Neurology