Phenotype/Genotype Correlations in Movement Disorders

Description

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....

Conditions

Movement Disorder

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Study Overview

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Study Details

Study overview

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....

Phenotype/Genotype Correlations in Movement Disorders

Phenotype/Genotype Correlations in Movement Disorders

Condition
Movement Disorder
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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

Ages Eligible for Study

2 Years to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Institute of Neurological Disorders and Stroke (NINDS),

Debra J Ehrlich, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Neurological Disorders and Stroke (NINDS)

Study Record Dates

N/A