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spinocerebellar ataxia type 23 (SCA23) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 23

MONDO:0012449

Also known as:SCA23spinocerebellar ataxia 23

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Overview

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

GeneticsAutosomal dominant · PDYN (chr 20)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (3 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 always present findings: Shrinkage of the cerebellum (cerebellar atrophy) and Limb ataxia; and very common findings: Gait ataxia and Overactive reflexes (hyperreflexia). 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Babinski sign, Dysarthria, Gait ataxia

Genetic Landscape

PDYN function has not been fully characterized.

Spinocerebellar ataxia type 23 is associated with mutations in the PDYN gene on chromosome 20.

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 6 common features.

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.

3 publications have been identified in PubMed for spinocerebellar ataxia type 23. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Saadeh VMD (2026). [PMID: 42008026](https://pubmed.ncbi.nlm.nih.gov/42008026/). *Cerebellum*. [Epidemiology / Natural History]
Santens P (2025). [PMID: 39820997](https://pubmed.ncbi.nlm.nih.gov/39820997/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum (London, England)*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610245

Orphanet

European rare disease database

Orphanet:101108

GARD

Genetic and Rare Diseases Info Center

GARD:9950

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 PDYN, 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 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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