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Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
Conditions: Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset, Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
Countries: United States
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.
Sex: ALL
Age: 18 Years to 80 Years
Healthy volunteers: No
Study type: OBSERVATIONAL
* INCLUSION CRITERIA Parkinson's Subjects \- Age 18 years to 80 years old with a history of early onset Parkinson's disease or Parkinsonism (Presentation within the first five decades of life). Healthy Control Subjects \- Age 18 years to 80 years old with no history or family history of Parkinson's disease or Parkinsonism. Family Member Control Subjects -Family members, of enrolled EOPD subjects, who themselves do not have Parkinson's disease or Parkinsonism can be enrolled as controls on this study. All Subjects * Willingness and legal ability to give and sign informed study consent * Willingness to have blood or tissue samples studied, and potentially stored for future research EXCLUSION CRITERIA All Subjects * Subjects who are unable or unwilling to sign an informed consent * Subjects with genetic defects associated with diseases including other neurologic syndromes. * Pregnancy
- Bethesda, Maryland, United States