Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Hereditary Ataxia
- Sponsor
- Office of Rare Diseases (ORD)
- Enrollment
- 18
- Locations
- 1
- Status
- Completed
- Last Updated
- 14 years ago
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.
Investigators
Tetsuo Ashizawa
Professor and Chair, Department of Neurology, The University of Texas Medical Branch
Office of Rare Diseases (ORD)
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Not specified