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spinocerebellar ataxia type 5 (SCA5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 5

MONDO:0010848

Also known as:SCA5spinocerebellar ataxia 5

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Overview

Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.

GeneticsAutosomal dominant · SPTBN2 (chr 11)

Clinical Trials1 registered

ResearchLimited published research (3 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: Poor head control, Strabismus, Dysmetria, and Shrinkage of the cerebellum (cerebellar atrophy) and others. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Gait ataxia, Ataxia, Intention tremor

Genetic Landscape

SPTBN2 function has not been fully characterized.

Spinocerebellar ataxia type 5 is caused by mutations in the SPTBN2 gene on chromosome 11.

Diagnosis

Genetic testing for SPTBN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 always present 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. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

3 publications have been identified in PubMed for spinocerebellar ataxia type 5. Research spans Basic Science / Preclinical (67%) and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Avery AW (2026). [PMID: 41890131](https://pubmed.ncbi.nlm.nih.gov/41890131/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Denha SA (2025). [PMID: 40484375](https://pubmed.ncbi.nlm.nih.gov/40484375/). *J Biol Chem*. [Basic Science / Preclinical]
Denha SA (2024). [PMID: 39345584](https://pubmed.ncbi.nlm.nih.gov/39345584/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600224

Orphanet

European rare disease database

Orphanet:98766

GARD

Genetic and Rare Diseases Info Center

GARD:4953

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 SPTBN2, 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 5

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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