Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spinocerebellar ataxia type 31 (SCA31) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 31

MONDO:0007296

Also known as:SCA31spinocerebellar ataxia 16q22-linkedspinocerebellar ataxia 31

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

GeneticsAutosomal dominant · BEAN1 (chr 16)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (6 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 common findings: Gaze-evoked horizontal nystagmus; and sometimes findings: Inner ear hearing loss (sensorineural hearing impairment). 8 total HPO annotations.

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

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.

BEAN1 encodes brain expressed associated with NEDD4 1 (259 aa). Highest expression in Brain Cortex (2.6 TPM) and Testis (2.6 TPM).

Spinocerebellar ataxia type 31 is associated with mutations in the BEAN1 gene on chromosome 16.

BEAN1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for BEAN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia type 31 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

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.

7 publications have been identified in PubMed for spinocerebellar ataxia type 31. Research spans Basic Science / Preclinical (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

Kagaya R (2026). [PMID: 41843260](https://pubmed.ncbi.nlm.nih.gov/41843260/). *J Neurol*. [Epidemiology / Natural History]
Fujiwara Y (2026). [PMID: 41841436](https://pubmed.ncbi.nlm.nih.gov/41841436/). *Angew Chem Int Ed Engl*. [Basic Science / Preclinical]
Chen Z (2025). [PMID: 39349043](https://pubmed.ncbi.nlm.nih.gov/39349043/). *Pract Neurol*. [Review / Meta-Analysis]
Mateja-Pluta M (2025). [PMID: 40966516](https://pubmed.ncbi.nlm.nih.gov/40966516/). *Nucleic Acids Res*. [Basic Science / Preclinical]
Bando K (2025). [PMID: 40906249](https://pubmed.ncbi.nlm.nih.gov/40906249/). *Cerebellum*. [Clinical Trial Publication]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:23 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:117210

Orphanet

European rare disease database

Orphanet:217012

GARD

Genetic and Rare Diseases Info Center

GARD:9975

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 BEAN1, 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 31

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

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

Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.

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

spinocerebellar ataxia type 31

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

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

Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.

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