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spinocerebellar ataxia 48 (SCA48) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia 48

MONDO:0032526

Also known as:SCA48

Overview

GeneticsAutosomal dominant · STUB1 (chr 16)

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: Ataxia, Depression, and Mental deterioration; and very common findings: Dysarthria. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	16	Bilateral tonic-clonic seizure, Difficulty swallowing (dysphagia), Parkinsonism

Genetic Landscape

STUB1 function has not been fully characterized.

Spinocerebellar ataxia 48 is associated with mutations in the STUB1 gene on chromosome 16.

Diagnosis

Genetic testing for STUB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia 48 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 9 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 spinocerebellar ataxia 48.

31 publications have been identified in PubMed for spinocerebellar ataxia 48. Research spans Case Report / Case Series (23%), Clinical Trial Publication (20%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	7	23%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618093

Orphanet

European rare disease database

Orphanet:631103

Questions for Your Care Team

→Should I pursue genetic testing for STUB1, 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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Kisho

spinocerebellar ataxia 48

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia 48

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications