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spinocerebellar ataxia type 12 (SCA12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 12

MONDO:0011439

Also known as:SCA12spinocerebellar ataxia 12

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal dominant · PPP2R2B (chr 5)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Action tremor, Parkinsonism, Abnormal eye movements (abnormality of eye movement), and Dysmetria and 14 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Action tremor, Parkinsonism, Axial dystonia
Muscles

Genetic Landscape

PPP2R2B function has not been fully characterized.

Spinocerebellar ataxia type 12 is associated with mutations in the PPP2R2B gene on chromosome 5.

Diagnosis

Genetic testing for PPP2R2B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia type 12 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

18 publications have been identified in PubMed for spinocerebellar ataxia type 12. Research spans Basic Science / Preclinical (44%), Case Report / Case Series (22%), and Other (11%).

Research Type	Count	% of Total
Laboratory research	8	44%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604326

Orphanet

European rare disease database

Orphanet:98762

GARD

Genetic and Rare Diseases Info Center

GARD:10476

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for PPP2R2B, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spinocerebellar ataxia type 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia type 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications