Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
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.
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.