NCIt synonyms : AOA2; Ataxia with Oculomotor Apraxia Type 2; SCAN2;
NCIt 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.;