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spinocerebellar ataxia, autosomal recessive 24 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 24

MONDO:0014934

Also known as:SCAR24UBA5 autosomal recessive cerebellar ataxiaautosomal recessive cerebellar ataxia caused by mutation in UBA5

Overview

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.

GeneticsAutosomal recessive · UBA5 (chr 3)

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: Cataract, Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, and Gait ataxia and others; and common findings: Spastic gait.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Dysarthria, Gait ataxia, Spastic gait

Genetic Landscape

UBA5 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 24 is associated with mutations in the UBA5 gene on chromosome 3.

Diagnosis

Genetic testing for UBA5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 1 common feature.

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 spinocerebellar ataxia, autosomal recessive 24.

19 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 24. Research spans Review / Meta-Analysis (32%), Basic Science / Preclinical (26%), and Clinical Trial Publication (21%).

Research Type	Count	% of Total
Research summaries	6	32%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617133

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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spinocerebellar ataxia, autosomal recessive 24

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia, autosomal recessive 24

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications