Opsoclonus Myoclonus |
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Clinical Trial: Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases
This study has been completed.
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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 |
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| 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
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
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.
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
- Dancing Eyes-Dancing Feet Syndrome (National Institute of Neurological Disorders and Stroke)
- Opsoclonus myoclonus (Cleveland Clinic)

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