Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - AOA2 - Ataxia with Oculomotor Apraxia Type 2 - SCAN2