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

Office of Rare Diseases (ORD)

Status: Completed

Conditions: Hereditary Ataxia

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004306

199/11796

Details and patient eligibility

About

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.

Full 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.

Enrollment: 18 patients

Sex: All

Ages: 3+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

Subjects who have the diagnosis of SCA10 and their immediate relatives.

Exclusion criteria

Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.