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episodic ataxia type 4 (PATX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia type 4

MONDO:0011681

Also known as:PATXperiodic vestibulocerebellar ataxiaEA4

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Overview

Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.

GeneticsAutosomal dominant

Clinical Trials1 registered

ResearchLimited published research (5 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: Gaze-evoked nystagmus, Diplopia, Vertigo, and Abnormality of ocular smooth pursuit and 5 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Gaze-evoked nystagmus, Diplopia, Abnormality of ocular smooth pursuit
Ears

Diagnosis

Biomarker and diagnostic research for episodic ataxia type 4 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. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

5 publications have been identified in PubMed for episodic ataxia type 4. Research spans Epidemiology / Natural History (40%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).

Recent Publications

Gold DR (2026). [PMID: 40693779](https://pubmed.ncbi.nlm.nih.gov/40693779/). *J Neuroophthalmol*. [Epidemiology / Natural History]
Pons NC (2026). [PMID: 42090775](https://pubmed.ncbi.nlm.nih.gov/42090775/). *J Neurol Sci*. [Diagnostic / Biomarker]
Rettenmaier LA (2025). [PMID: 40679574](https://pubmed.ncbi.nlm.nih.gov/40679574/). *Cerebellum*. [Epidemiology / Natural History]
Verriello L (2025). [PMID: 39954114](https://pubmed.ncbi.nlm.nih.gov/39954114/). *J Neurol*. [Case Report / Case Series]
Mammadova D (2024). [PMID: 39416668](https://pubmed.ncbi.nlm.nih.gov/39416668/). *Front Neurol*. [Basic Science / Preclinical]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606552

Orphanet

European rare disease database

Orphanet:79136

GARD

Genetic and Rare Diseases Info Center

GARD:16703

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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episodic ataxia type 4

Overview

Clinical Presentation

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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