Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases

NCT ID: NCT00001667

Last Updated: 2008-03-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

1997-03-31

Study Completion Date

2000-04-30

Brief Summary

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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

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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.

Conditions

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Movement Disorders Myoclonus Nervous System Diseases Tic Disorders Tremor

Eligibility Criteria

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Inclusion Criteria

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

No conditions in which phlebotomy is contra-indicated.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role lead

Locations

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National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND
PMID: 8559377 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 8559378 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 7730309 (View on PubMed)

Other Identifiers

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97-N-0097

Identifier Type: -

Identifier Source: secondary_id

970097

Identifier Type: -

Identifier Source: org_study_id

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