NIH Clinical Research Studies

Protocol Number: 01-N-0206

Active Accrual, Protocols Recruiting New Patients

Title:
Phenotype/Genotype Correlations in Movement Disorders
Number:
01-N-0206
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.
Sponsoring Institute:
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA:

Patients of all ages and their families with known or suspected inherited neurological disorders will be considered as potential candidates for this study. In particular, families with more than one affected relative will be sought.

Movement disorders to be studied include but are not limited to Parkinson's disease, spinocerebellar ataxias, hereditary tremor and myoclonus.

Pregnant women will be included except for tests involving radiation or anesthesia.

Referrals will be accepted from geneticists, genetic counselors, neurologists and other health care providers and family members who express interest in participating when sufficient clinical and/or laboratory diagnostic evidence is available.

Medical records that support the diagnosis will be requested and evaluated by the principal investigator and his associates. Those identified to meet diagnostic criteria, will be invited to the NIH for evaluation.

Some family members may choose not to travel to the NIH for the clinical component of this project, but may choose to participate in the registry and tissue analysis aspects of this research project.

Appropriateness for inclusion in the protocol will be considered after medical record review and discussion with the referring health care provider.

The general health and well being of each potential participant must be sufficient to allow for travel to the NIH, blood drawing, and as indicated, pulmonary and cardiac evaluations, physical therapy assessments, and other routine diagnostic procedures.

Patients will be enrolled without regard to race, creed, color, religion, or national origin.

EXCLUSION CRITERIA:

Pregnant women will be included except for tests involving radiation or anesthesia.

Special Instructions: Currently Not Provided
Keywords:
Clinical Evaluation
Genetic Study
Essential Tremor
Familial Myoclonus
Hereditary Ataxia
Recruitment Keywords:
Essential Tremor
Familial Myoclonus
Hereditary Ataxia
Movement Disorder
Inherited Movement Disorder
Conditions:
Movement Disorder
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations: Not Provided

Active Accrual, Protocols Recruiting New Patients

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