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ataxia - oculomotor apraxia type 4 (AOA4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ataxia - oculomotor apraxia type 4

MONDO:0014557

Also known as:AOA4PNKP oculomotor apraxia or related oculomotor diseaseoculomotor apraxia or related oculomotor disease caused by mutation in PNKP

Overview

Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.

GeneticsAutosomal recessive · PNKP (chr 19)

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), Areflexia, Ataxia, and Oculomotor apraxia and others; and common findings: Dystonia, Hypercholesterolemia, Impaired vibratory sensation, and Hypoalbuminemia and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Dystonia, Ataxia, Difficulty with thinking and memory (cognitive impairment)

Genetic Landscape

PNKP function has not been fully characterized.

Ataxia - oculomotor apraxia type 4 is associated with mutations in the PNKP gene on chromosome 19.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for ataxia - oculomotor apraxia type 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 7 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.

No clinical trials have been registered for ataxia - oculomotor apraxia type 4.

218 publications have been identified in PubMed for ataxia - oculomotor apraxia type 4. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	73	33%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616267

Orphanet

European rare disease database

Orphanet:459033

GARD

Genetic and Rare Diseases Info Center

GARD:13111

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

ataxia - oculomotor apraxia type 4

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

ataxia - oculomotor apraxia type 4

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