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spinocerebellar ataxia type 26 (SCA26) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 26

MONDO:0012246

Also known as:SCA26spinocerebellar ataxia 26

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.

GeneticsAutosomal dominant · EEF2 (chr 19)

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: Incoordination, Truncal ataxia, Nystagmus, and Impaired horizontal smooth pursuit and 5 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Truncal ataxia, Dysarthria, Gait ataxia
Eyes

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EEF2 encodes eukaryotic translation elongation factor 2 (858 aa). Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. Highest expression in Ovary (2,998 TPM) and Cells Cultured fibroblasts (2,856 TPM).

Spinocerebellar ataxia type 26 is associated with mutations in the EEF2 gene on chromosome 19.

The EEF2 protein participates in aminocarboxypropyl EEF2, Me-diphthine EEF2, and GTP-binding activates eEF2 pathways.

EEF2 is classified as a druggable target (Druggable Genome and Kinase categories) with score 5.8.

Diagnosis

Genetic testing for EEF2 is available. Testing is considered confirmatory for diagnosis.

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 26. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Honda N (2025). [PMID: 40271315](https://pubmed.ncbi.nlm.nih.gov/40271315/). *Cureus*. [Basic Science / Preclinical]
Prasun P (2024). [PMID: 39359947](https://pubmed.ncbi.nlm.nih.gov/39359947/). *Molecular syndromology*. [Case Report / Case Series]
Tveit Solheim E (2024). [PMID: 39473143](https://pubmed.ncbi.nlm.nih.gov/39473143/). *Ann Clin Transl Neurol*. [Epidemiology / Natural History]
Fulton MD (2024). [PMID: 39652595](https://pubmed.ncbi.nlm.nih.gov/39652595/). *PLoS Genet*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609306

Orphanet

European rare disease database

Orphanet:101112

GARD

Genetic and Rare Diseases Info Center

GARD:9995

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 EEF2, 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 26

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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