Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
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|ClinicalTrials.gov Identifier: NCT00004306|
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : March 6, 2012
OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.
II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.
|Condition or disease|
PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction from blood, skin and muscle; genotype phenotype correlation.
A neuropathologic evaluation is conducted postmortem, when possible.
|Study Type :||Observational|
|Actual Enrollment :||18 participants|
|Official Title:||Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)|
|Study Start Date :||November 1999|
|Actual Primary Completion Date :||March 2009|
|Actual Study Completion Date :||March 2009|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004306
|United States, Texas|
|University of Texas Medical Branch at Galveston|
|Galveston, Texas, United States, 77555|
|Principal Investigator:||Tetsuo Ashizawa, MD||University of Texas, Galveston|