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spinocerebellar ataxia type 34 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 34

MONDO:0007574

Also known as:Erythrokeratodermia with AtaxiaSCA34spinocerebellar ataxia and erythrokeratodermia

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Overview

A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

GeneticsAutosomal dominant · ELOVL4 (chr 6)

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 always present findings: Dysarthria, Limb ataxia, and Nystagmus; and common findings: Hyporeflexia, Peripheral axonal neuropathy, Shrinkage of the cerebellum (cerebellar atrophy), and Cerebral cortical atrophy and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Hyporeflexia, Peripheral axonal neuropathy, Cerebral cortical atrophy

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.

ELOVL4 encodes ELOVL fatty acid elongase 4 (314 aa). Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. Highest expression in Skin Sun Exposed Lower leg (68.2 TPM) and Skin Not Sun Exposed Suprapubic (64.1 TPM).

Spinocerebellar ataxia type 34 is associated with mutations in the ELOVL4 gene on chromosome 6.

The ELOVL4 protein participates in ELOVL1,4 elongate TCS-CoA and Mal-CoA to 3OHC-CoA pathway.

ELOVL4 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for ELOVL4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 8 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.

4 publications have been identified in PubMed for spinocerebellar ataxia type 34. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Morikawa-Yujiri Y (2026). [PMID: 42173623](https://pubmed.ncbi.nlm.nih.gov/42173623/). *J Pharmacol Sci*. [Basic Science / Preclinical]
Cundari M (2025). [PMID: 41445982](https://pubmed.ncbi.nlm.nih.gov/41445982/). *Frontiers in computational neuroscience*. [Case Report / Case Series]
Makhoul K (2025). [PMID: 40635543](https://pubmed.ncbi.nlm.nih.gov/40635543/). *Journal of clinical neurology (Seoul, Korea)*. [Case Report / Case Series]
Gazulla J (2024). [PMID: 38771545](https://pubmed.ncbi.nlm.nih.gov/38771545/). *Cerebellum (London, England)*. [Gene Therapy / Novel Therapeutics]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:133190

Orphanet

European rare disease database

Orphanet:1955

GARD

Genetic and Rare Diseases Info Center

GARD:59

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 ELOVL4, 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?

← Back to All Diseases

Kisho

spinocerebellar ataxia type 34

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.

spinocerebellar ataxia type 34

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

Explore clinical features

Latest News & Developments

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.