spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0018996), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- 39 of 39 reported patients
- Diminished deep tendon reflexHPOHP:0001315
- 18 of 18 reported patients
- Distal amyotrophyHPOHP:0003693
- 10 of 10 reported patients
- Distal muscle weaknessHPOHP:0002460
- 10 of 10 reported patients
- DysarthriaHPOHP:0001260
- 10 of 10 reported patients
- DysphagiaHPOHP:0002015
- 10 of 10 reported patients
- Occasional (5% to 29% of cases)
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 43 of 43 reported patients
- Frequent (30% to 79% of cases)
- Impaired proprioceptionHPOHP:0010831
- 10 of 10 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 8 of 8 reported patients
- AreflexiaHPOHP:0001284
- 41 of 47 reported patients
- Very frequent (80% to 99% of cases)
- Gait ataxiaHPOHP:0002066
- 23 of 28 reported patients
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
Show the remaining 23
- Cerebellar vermis atrophyHPOHP:0006855
- Very frequent (80% to 99% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Very frequent (80% to 99% of cases)
- Pes cavusHPOHP:0001761
- 12 of 18 reported patients
- Gait imbalanceHPOHP:0002141
- Frequent (30% to 79% of cases)
- Gaze-evoked nystagmusHPOHP:0000640
- Frequent (30% to 79% of cases)
- Oculomotor apraxiaHPOHP:0000657
- 18 of 47 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
10 names
Resolves to: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Also called
- AOA2ataxia with oculomotor apraxia type 2ataxia-ocular apraxia 2ataxia-oculomotor apraxia 2ataxia-oculomotor apraxia type 2SCAN 2SCAN2spinocerebellar ataxia with axonal neuropathy type 2spinocerebellar ataxia, autosomal recessive 1spinocerebellar ataxia, autosomal recessive type 1