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Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases - Article


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Opsoclonus Myoclonus

 




Clinical Trial: Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases

This study has been completed.

Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: Warren G Magnuson Clinical Center (CC)

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

MedlinePlus related topics:  Mental Health;   Movement Disorders;   Neurologic Diseases;   Tremor

Study Type: Observational
Study Design: Natural History

Further Study Details: 

Expected Total Enrollment:  300

Study start: March 26, 1997;  Study completion: April 28, 2000

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

Criteria

Neurologic disease or movement disorders affecting 2 or more family members.
No conditions in which phlebotomy is contra-indicated.

Location Information


Maryland
      National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States

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
Record last reviewed:  February 18, 1999
Last Updated:  December 11, 2002
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001667
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08


Source: ClinicalTrials.gov
Cache Date: April 9, 2005

Resources



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November 30, 2009



Page Updated: October 3, 2005
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