Clinical Trial: Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

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 Summary:

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.

Sponsor: Office of Rare Diseases (ORD)

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Office of Rare Diseases (ORD)

Dates:
Date Received: October 18, 1999
Date Started: November 1999
Date Completion:
Last Updated: March 5, 2012
Last Verified: March 2012