Background: \- Parkinson s disease is a disease of the nervous system that affects movement. People usually get it in their 70s or 80s. Early onset Parkinson s disease (EOPD) begins before the age of 50. Researchers think EOPD may be caused by a mutation in a gene. They want to study the genetic causes so they can find therapies for this disease. Objective: \- To better understand the genetic causes of EOPD. Eligibility: * Adults ages 18 80 with a history of EOPD. Their family members, who do not have Parkinson s disease, can join as controls. * Healthy volunteers ages 18 80. Design: * Participants with EOPD and their relatives will be screened with a review of medical records. Healthy volunteers will have medical history, physical exam, and blood drawn. * Relatives may send blood samples to NIH to test for mutations in genes that are linked to Parkinson s disease. They may have a physical exam. * Participants may be asked to return to clinic for another visit that can last up to 2 hours. * During this visit, participants will have blood taken from a vein in the arm via a needle stick. * Participants may give a sample of their skin. The skin on the arm or leg will be numbed and a small skin punch biopsy will be taken with a special needle. * Some cells from the blood or skin sample may be grown in a lab to establish cell lines. The cells may also potentially be genetically modified to make stem cells. * Researchers may perform genetic analysis on the samples to compare them to EOPD patient samples.
Age range
18 Years – 80 Years
Sex
ALL
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The primary objective of this study is to genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopamine...
Timeframe: 5 years