Back to resultsGenotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases
Primary Purpose
Movement Disorders, Myoclonus, Nervous System Diseases
Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Movement Disorders focused on measuring Family Studies, Genetic, Myoclonus, Tics, Tremor, Movement Disorders, Neurological Disease
Eligibility Criteria
Neurologic disease or movement disorders affecting 2 or more family members. No conditions in which phlebotomy is contra-indicated.
Sites / Locations
- National Institute of Neurological Disorders and Stroke (NINDS)
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00001667
First Posted
November 3, 1999
Last Updated
March 3, 2008
Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
1. Study Identification
Unique Protocol Identification Number
NCT00001667
Brief Title
Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases
Official Title
Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases
Study Type
Observational
2. Study Status
Record Verification Date
February 1999
Overall Recruitment Status
Completed
Study Start Date
March 1997 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
April 2000 (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
4. Oversight
5. Study Description
Brief 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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Movement Disorders, Myoclonus, Nervous System Diseases, Tic Disorders, Tremor
Keywords
Family Studies, Genetic, Myoclonus, Tics, Tremor, Movement Disorders, Neurological Disease
7. Study Design
Enrollment
300 (false)
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Neurologic disease or movement disorders affecting 2 or more family members.
No conditions in which phlebotomy is contra-indicated.
Facility Information:
Facility Name
National Institute of Neurological Disorders and Stroke (NINDS)
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
8559377
Citation
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. doi: 10.1212/wnl.46.1.208.
Results Reference
background
PubMed Identifier
8559378
Citation
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. doi: 10.1212/wnl.46.1.214.
Results Reference
background
PubMed Identifier
7730309
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. doi: 10.1074/jbc.270.17.10062.
Results Reference
background
Learn more about this trial
Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases
We'll reach out to this number within 24 hrs