spinocerebellar ataxia with axonal neuropathy 2 (DOID:0050755)
Alliance: disease page
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
Alt IDs: OMIM:606002, ORDO:64753
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.