Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases - Full Text View

Purpose

The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis.

Condition

Movement Disorders
Myoclonus
Nervous System Diseases
Tic Disorders
Tremor

Genetics Home Reference related topics:

familial paroxysmal nonkinesigenic dyskinesia

MedlinePlus related topics:

Movement Disorders Neurologic Diseases Tremor

U.S. FDA Resources

Study Type:	Observational

Official Title:	Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases

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

Estimated Enrollment:	300
Study Start Date:	March 1997
Estimated Study Completion Date:	April 2000

Detailed Description:

The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Neurologic disease or movement disorders affecting 2 or more family members.

No conditions in which phlebotomy is contra-indicated.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001667

Locations


United States, Maryland
	National Institute of Neurological Disorders and Stroke (NINDS)
	Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

More Information

Publications:

Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996 Jan;46(1):208-13.

Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Junior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 1996 Jan;46(1):214-8.

Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem. 1995 Apr 28;270(17):10062-71.

Study ID Numbers:	970097, 97-N-0097
First Received:	November 3, 1999
Last Updated:	March 3, 2008
ClinicalTrials.gov Identifier:	NCT00001667
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Family Studies

Genetic

Myoclonus

Tics

Tremor

Movement Disorders

Neurological Disease

Study placed in the following topic categories:

Signs and Symptoms

Myoclonus

Mental Disorders

Movement Disorders

Mental Disorders Diagnosed in Childhood

Neurologic Manifestations

Central Nervous System Diseases

Tic Disorders

Dyskinesias

Tremor

Tics

Additional relevant MeSH terms:

Pathologic Processes

Disease

Nervous System Diseases

ClinicalTrials.gov processed this record on November 30, 2008

Sponsored by:	National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00001667