Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 18
- Locations
- 1
Study Overview
Brief Summary
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.
Detailed Description
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 Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 3 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Investigators
Tetsuo Ashizawa
Professor and Chair, Department of Neurology, The University of Texas Medical Branch
Office of Rare Diseases (ORD)