Phenotype/Genotype Correlations in Movement Disorders
National Institute of Neurological Disorders and Stroke (NINDS)
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.
Description
Objective: The primary objective of this study is to perform phenotypic and genotypic characterizations of patients and family members with a known or suspected diagnosis of a movement disorder and screen for eligibility to participate in other movement disorder related protocols: * 14-N-0086 Deep brain stimulation therapy in movement disorders * 11-N-0211 Deep brain stimulation surgery for movement disorders * 000865: Natural history of movement disorders * 00-N-0043: Clinical and molecular manifestations of inherited neurologic disorders * 03-AG-N-329 (NIA): The genetic characterization of…
Eligibility
- Age range
- 2–100 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA: * 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 CRITERIA: * Pregnant women * Children less than 2 years of age * Employees of the P…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland