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Phenotype/Genotype Correlations in Movement Disorders

This study is currently recruiting participants.
Verified by National Institutes of Health Clinical Center (CC), July 2008

Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00018889
  Purpose

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.


Condition
Movement Disorder

Genetics Home Reference related topics:   essential tremor    familial paroxysmal nonkinesigenic dyskinesia    Friedreich ataxia   

MedlinePlus related topics:   Movement Disorders   

U.S. FDA Resources

Study Type:   Observational
Official Title:   Phenotype/Genotype Correlations in Movement Disorders

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:   500
Study Start Date:   July 2001

Detailed 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.

  Eligibility
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Criteria
  • INCLUSION CRITERIA:

Individuals with known or suspected inherited movement disorders.

Families where multiple family members that are affected with a movement disorder.

EXCLUSION CRITERIA:

Pregnant women will be excluded from any tests involving radiation treatment.

  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00018889

Contacts
Contact: Patient Recruitment and Public Liaison Office     (800) 411-1222     prpl@mail.cc.nih.gov    
Contact: TTY     1-866-411-1010    

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike     Recruiting
      Bethesda, Maryland, United States, 20892

Sponsors and Collaborators
  More Information


NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site
 

Study ID Numbers:   010206, 01-N-0206
First Received:   July 7, 2001
Last Updated:   July 18, 2008
ClinicalTrials.gov Identifier:   NCT00018889
Health Authority:   United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Clinical Evaluation  
Genetic Study  
Essential Tremor  
Familial Myoclonus  
Hereditary Ataxia  
Essential Tremor
Familial Myoclonus
Hereditary Ataxia
Movement Disorder
Inherited Movement Disorder

Study placed in the following topic categories:
Essential Tremor
Myoclonus
Movement Disorders
Benign essential tremor syndrome
Ataxia
Central Nervous System Diseases
Hereditary ataxia
Tremor

Additional relevant MeSH terms:
Pathologic Processes
Disease
Nervous System Diseases

ClinicalTrials.gov processed this record on October 31, 2008




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