spinocerebellar ataxia with axonal neuropathy 2

Term ID

DOID:0050755

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. (3)

References

• GARD:12860
• OMIM:606002
• ORDO:64753

Ontology

Human Disease   ( DOID:0050755 )