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  • A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive.
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