|Principal Investigator: David Shprecher|
|Keywords: Parkinson's Disease , Movement Disorder , Family genetic||Department: Neurology|
|IRB Number: 00049741|
|Specialty: Neurology, Neurology, Neurology|
|Sub Specialties: Movement Disorders, Parkinson's Disease, Neurodegenerative Disorders|
|Recruitment Status: Enrolling by invitation|
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.
A family history of PD with positive clinical signs of constipation, dream enactment behavior, excessive daytime somnolence, impaired color visual discrimination and olfactory dysfunction, subtle motor impairment have shown to be predictive of PD and related disorders. A battery of surveys on these symptoms among a significant proportion of our PaGeR family members could justify feasibility for brief pilot study to determine proportion of “at risk” subjects with dopaminergic deficit on a DAT SPECT and feasibility for a neuroprotection trial of promising agents designed to delay phenocoversion and decline in SBR in those at imminent risk.
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)
Specific Aim#3: Identification of early clinical signs of constipation, dream enactment behavior, excessive daytime somnolence, impaired color visual discrimination and olfactory dysfunction, subtle motor impairment of first degree family members of PaGeR participants and feasibility assessment of further research through early intervention therapies.
Hypothesis #2: Clinical signs of constipation, dream enactment behavior, excessive daytime somnolence, impaired color visual discrimination and olfactory dysfunction, subtle motor impairment matched with DAT SPECT imaging would be predictive of PD providing an more effective treatment through early intervention therapies.
Characteristics of Participants/Inclusion Criteria:
- People 18 years and older who have been diagnosed with Parkinson's Disease, as well as their affected and unaffected first degree family members (i.e. parent, sibling, child).
- Ongoing enrollment of interested families and individuals meeting inclusion criteria will continue to be recruited for enrollment in this study.