Protocol Details

Phenotype/Genotype Correlations in Movement Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	01-N-0206
Sponsoring Institute	National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Keywords	Clinical Evaluation; Genetic Study; Essential Tremor; Familial Myoclonus; Hereditary Ataxia; Natural History
Recruitment Keyword(s)	Essential Tremor; Familial Myoclonus; Hereditary Ataxia; Movement Disorder; Inherited Movement Disorder
Condition(s)	Movement Disorder
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Neurological Disorders and Stroke

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.

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Eligibility

INCLUSION CRITERIA:

Individuals with known or suspected inherited movement disorders.

Family members of movement disorders patients

EXCLUSION CRITERIA:

Pregnant women will be excluded from MRI or X-ray studies

Children less than 2 years of age

Those who cannot provide their own consent or appoint a Durable Power of Attorney (DPA).

Exclusion criteria for MRI

-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, 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.

-Are pregnant

-Under 12 years of age

There is no general exclusion for NIH employees. Inclusion/exclusion criteria will be checked before enrollment in each sub-study to ensure that participants remain eligible.

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Citations:

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Contacts:

Principal Investigator	Referral Contact	For more information:
Debra J. Ehrlich, M.D. National Institute of Neurological Disorders and Stroke (NINDS) NIHBC 10 - CLINICAL CENTER BG RM 7D37 10 CENTER DR BETHESDA MD 20892 (301) 443-7888 debra.ehrlich@nih.gov	Konjit Yirgashewa National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health Building 10 Room 7D53 10 Center Drive Bethesda, Maryland 20892 (301) 594-5277 yirgashewa.konjit@nih.gov	Office of Patient Recruitment National Institutes of Health Clinical Center (CC) Building 61, 10 Cloister Court Bethesda, Maryland 20892 Toll Free: 1-800-411-1222 Local Phone: 301-451-4383 TTY: TTY Users Dial 7-1-1 ccopr@nih.gov

Clinical Trials Number:

NCT00018889

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