spinocerebellar ataxia type 12
Findings
No curated finding names spinocerebellar ataxia type 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
Definition from the Mondo Disease Ontology (MONDO:0011439), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
- Action tremorHPOHP:0002345
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Limb dysmetriaHPOHP:0002406
- Frequent (30% to 79% of cases)
- ParkinsonismHPOHP:0001300
- Frequent (30% to 79% of cases)
- Tremor by anatomical siteHPOHP:0030188
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- BradykinesiaHPOHP:0002067
- Occasional (5% to 29% of cases)
Show the remaining 9
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- DementiaHPOHP:0000726
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- HypokinesiaHPOHP:0002375
- Occasional (5% to 29% of cases)
- Intention tremorHPOHP:0002080
- Occasional (5% to 29% of cases)
- Poor fine motor coordinationHPOHP:0007010
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- PPP2R2BHGNC:9305
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 12
- Also called
- SCA12