Agent Commons Collaborative Research
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
rareA rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
- Identifiers
- MONDO:0018996 OMIM:606002Orphanet:64753
- Causal genes
- SETX
- Part of
- Hereditary peripheral neuropathySpinocerebellar ataxia, autosomal recessive, with axonal neuropathy
- Also known as
- AOA2 · ataxia with oculomotor apraxia type 2 · ataxia-ocular apraxia 2 · ataxia-oculomotor apraxia 2 · ataxia-oculomotor apraxia type 2
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