Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases

Nervous System Diseases Clinical Trial

Official title:

Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00001667
• Other study ID #: 970097
• Secondary ID: 97-N-0097
• Status: Completed
• Phase: N/A
• First received: November 3, 1999
• Last updated: March 3, 2008
• Start date: March 1997
• Est. completion date: April 2000

Study information

• Verified date: February 1999
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 300
• Est. completion date: April 2000
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

No conditions in which phlebotomy is contra-indicated.

Study Design

N/A

Related Conditions & MeSH terms

• Disease
• Movement Disorders
• Myoclonus
• Nervous System Diseases
• Tic Disorders
• Tics
• Tremor

Locations

Country	Name	City	State
United States	National Institute of Neurological Disorders and Stroke (NINDS)	Bethesda	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

References & Publications (3)

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. — View Citation

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. — View Citation

Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior 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. — View Citation