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spinocerebellar ataxia with axonal neuropathy 2
Summary
- Synonym
-
- AOA2
- SCAN2
- SCAR1
- ataxia with oculomotor apraxia type 2
- autosomal recessive spinocerebellar ataxia 1
- autosomal recessive spinocerebellar ataxia with axonal neuropathy 2
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050755
- Mondo Disease Ontology
- ORDO
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z333 | Probable helicase senataxin |
