Autosomal recessive spinocerebellar ataxia type 11
An autosomal recessive condition caused by mutation(s) in the SETX gene, encoding probable helicase senataxin. It is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. Oculomotor apraxia is common, but is not always present.
Disease Alternative Name
ataxia with oculomotor apraxia type 2
spinocerebellar ataxia
autosomal recessive
with axonal neuropathy 2
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