Term Name:	spinocerebellar ataxia with axonal neuropathy 2
Synonyms:	AOA2, ataxia with oculomotor apraxia type 2, autosomal recessive spinocerebellar ataxia 1, autosomal recessive spinocerebellar ataxia with axonal neuropathy 2, SCAN2, SCAR1, spinocerebellar ataxia with axonal neuropathy type 2
Definition:	An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.
Ontology:	Human Disease [DOID:0050755]   ( DOID:0050755 )