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spinocerebellar ataxia type 30 (SCA30) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 30

MONDO:0013241

Also known as:SCA30spinocerebellar ataxia 30

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Overview

Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (4 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 sometimes findings: Gaze-evoked nystagmus. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Gaze-evoked nystagmus, Hypermetric saccades
Brain and nerves

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.

4 publications have been identified in PubMed for spinocerebellar ataxia type 30. Research spans Clinical Trial Publication (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Nakagawa Y (2025). [PMID: 41079917](https://pubmed.ncbi.nlm.nih.gov/41079917/). *Journal of Alzheimer's disease reports*. [Case Report / Case Series]
Macpherson CE (2025). [PMID: 41445681](https://pubmed.ncbi.nlm.nih.gov/41445681/). *International journal of telerehabilitation*. [Clinical Trial Publication]
McNames J (2025). [PMID: 41107202](https://pubmed.ncbi.nlm.nih.gov/41107202/). *The Lancet. Digital health*. [Clinical Trial Publication]
Zesiewicz TA (2025). [PMID: 40748127](https://pubmed.ncbi.nlm.nih.gov/40748127/). *Continuum (Minneapolis, Minn.)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613371

Orphanet

European rare disease database

Orphanet:211017

GARD

Genetic and Rare Diseases Info Center

GARD:4950

Questions for Your Care Team

→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 type 30

Overview

Clinical Presentation

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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