Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2
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.
Exact Synonyms
AOA2
Ataxia with Oculomotor Apraxia Type 2
SCAN2
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2
class Information
code
C165500
Contributing_Source
Cellosaurus
Preferred_Name
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2
Semantic_Type
Disease or Syndrome
UMLS_CUI
C1853761
class Relations
Subclass of