Hereditary Ataxia Clinical Trial
Official title:
Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
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.
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Observational Model: Cohort, Time Perspective: Prospective
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