Background:
Parkinson s disease is a neurologic disorder that affects movement. Its cause is unknown, and it usually begins later in life. Gene changes (PRKN and PINK1) can also cause rare types of Parkinson s disease that start at a young age. Researchers want to conduct a natural history study to learn more about how genes play a role in Parkinson s disease.
Objective:
To collect data and biological samples from people with different types of Parkinson s disease.
Eligibility:
People aged 18 to 80 years with either Parkinson s disease or PRKN- and PINK1-linked Parkinson s disease. Healthy volunteers are also needed.
Design:
Participants will have 6 clinic visits over 5 years. Each visit may take 1 to 3 days.
During each visit:
Participants will have a physical exam. The exam will be videotaped.
They will answer questions about their movement, thinking, mood, and sense of smell. The extent of any symptoms of Parkinson s disease will be evaluated: Participants movements may be assessed with a finger tapping test. They may be asked to scratch and sniff different scented strips to identify odors.
They will wear motion sensors on their arms, legs, chest, and back at the clinic. They will wear motion sensor devices on their wrists at home for 1 week.
Blood and urine samples will be collected.
Other tests are optional:
Magnetic resonance imaging (MRI) scan of the brain. Participants will lie on a table that slides into a tube.
Lumbar puncture (spinal tap). A thin needle will be inserted into their lower back to draw out a sample of the fluid around their spinal cord.
Muscle biopsy. A small sample of tissue will be taken from the leg.
Stated willingness to comply with all study procedures and availability for the duration of the study
Male or female between the ages of 18-80 years old
Ability of subject to understand and the willingness to sign an informed consent document
Ability of subject to travel to the NIH Clinical Center
Symptomatic PD syndromes due to drugs (e.g., metoclopramide, flunarizine, neuroleptics), metabolic disorders (e.g., Wilson's disease hypothyroidism), encephalitis, brain lesion, atypical parkinsonism, other monogenic forms of PD (e.g., GBA1, LRRK2, SNCA, VPS35, CHCHD2, DJ1, ATP13A2) other genetic disorders that may cause parkinsonism (e.g., spinocerebellar ataxia, X-linked dystonia parkinsonism)
Pregnancy at time of study enrollment
Any other reason that, in the opinion of the investigator, would render the participant unsuitable for study enrollment
Unwilling to allow samples or data to be shared with other researchers or institutions.
There will be a total of up to 50 male or female participants 18- 80 years of age and older in 5 cohorts. Target number of completers for each cohort are listed below: - PD mito-biallelic (PD participants carrying two pathogenic variants in PRKN or PINK1): up to 15 - PD mito-monoallelic (PD participants carrying one pathogenic mono-allelic variant in PRKN and/or PINK1): up to 10 - PD idiopathic: up to 5 - Non-manifesting mito (participants who carry one or two pathogenic variants in PRKN and/or PINK1 but do not have a diagnosis of PD): up to 15 - Healthy controls: up to 5
Cohort
Prospective
Not listed
Estimation of progression of motor symptoms across cohorts
Measured by annual change in MDS Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III
Annual change in MDS-UPDRS parts I, II, IV
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Annual change in Montreal Cognitive Assessment (MoCA)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Annual change in Timed up and go (TUG)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Annual change in 10-meter walk
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
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