Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
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.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)|
DNA from blood and skin and muscle biopsy samples.
|Study Start Date:||November 1999|
|Study Completion Date:||March 2009|
|Primary Completion Date:||March 2009 (Final data collection date for primary outcome measure)|
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.
|United States, Texas|
|University of Texas Medical Branch at Galveston|
|Galveston, Texas, United States, 77555|
|Principal Investigator:||Tetsuo Ashizawa, MD||University of Texas, Galveston|