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spinocerebellar ataxia, autosomal recessive 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 23

MONDO:0014846

Also known as:SCAR23autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiencyspinocerebellar ataxia autosomal recessive type 23

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive · TDP2 (chr 6)

OnsetCHILDHOOD

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (9 articles)

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: Microcephaly, Easy fatigability, Seizure, and Ataxia and 6 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Ataxia, Excessive daytime somnolence
Head and neck

Genetic Landscape

TDP2 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 23 is caused by mutations in the TDP2 gene on chromosome 6.

Diagnosis

Genetic testing for TDP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 23 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.

9 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 23. Research spans Case Report / Case Series (44%), Diagnostic / Biomarker (11%), and Review / Meta-Analysis (11%).

Recent Publications

Liu H (2025). [PMID: 40319245](https://pubmed.ncbi.nlm.nih.gov/40319245/). *BMC Med Genomics*. [Case Report / Case Series]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Clinical Trial Publication]
Rudaks LI (2025). [PMID: 40007153](https://pubmed.ncbi.nlm.nih.gov/40007153/). *Ann Clin Transl Neurol*. [Diagnostic / Biomarker]
Colona VL (2025). [PMID: 41457191](https://pubmed.ncbi.nlm.nih.gov/41457191/). *Neurol Sci*. [Case Report / Case Series]
Cesaroni CA (2024). [PMID: 37831383](https://pubmed.ncbi.nlm.nih.gov/37831383/). *Cerebellum*. [Case Report / Case Series]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 6:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616949

Orphanet

European rare disease database

Orphanet:404493

GARD

Genetic and Rare Diseases Info Center

GARD:17677

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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, autosomal recessive 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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