NCT00004306

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

Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 18 (actual)
• Sponsor: Office of Rare Diseases (ORD) · NIH
• Sex: All
• Age: 3 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Hereditary Ataxia

Timeline

• Start date: 1999-11-01
• Primary completion: 2009-03-01
• Completion: 2009-03-01
• First posted: 1999-10-19
• Last updated: 2012-03-06

Locations

1 site across 1 country: United States