Phenotype/Genotype Correlations in Movement Disorders
National Institute of Neurological Disorders and Stroke (NINDS)
2,500 participants
Oct 22, 2001
OBSERVATIONAL
Conditions
Summary
The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder.
Eligibility
Inclusion Criteria5
- Individuals with suspected movement disorders
- Family members of movement disorders patients
- Ability to give informed consent or have a legally authorized representative able to give consent (for adults without consent capacity) or parent/guardian able to provide informed consent (for a child)
- If unable to give informed consent, ability to give assent (for children or adults without consent capacity)
- NIH Employees can participate in this study if they meet eligibility.
Exclusion Criteria8
- Pregnant women
- Children less than 2 years of age
- Employees of the Parkinson's Disease Clinic, NINDS
- Presence of metal in subject s body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if subject was a welder or metal worker, since small metal fragments in the eye may be present.
- Subject is uncomfortable in small closed spaces (have claustrophobia) so that they would feel uncomfortable in the MRI machine.
- Unable to lie comfortably on back for up to 1 hour
- Under 12 years of age
- There is no general exclusion for NIH employees.
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT00018889