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

Office of Rare Diseases (ORD)18 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Hereditary Ataxia

Eligibility

Sex: ALLMin age: 3 Years

Medical Language ↔ Plain English

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.

Locations (1)

University of Texas Medical Branch at Galveston

Galveston, Texas, United States

Data from ClinicalTrials.gov

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