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spinocerebellar ataxia, autosomal recessive 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 22

MONDO:0014845

Also known as:SCAR22VWA3B autosomal recessive cerebellar ataxiaautosomal recessive cerebellar ataxia caused by mutation in VWA3B

Overview

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.

GeneticsAutosomal recessive · VWA3B (chr 2)

ResearchLimited published research (7 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: Truncal ataxia, Hypoplasia of the corpus callosum, Dysmetria, and Shrinkage of the cerebellum (cerebellar atrophy) and 9 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Truncal ataxia, Dysarthria, Ataxia

Genetic Landscape

VWA3B function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 22 is associated with mutations in the VWA3B gene on chromosome 2.

Diagnosis

Genetic testing for VWA3B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 22 has been reported in the published literature.

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 22.

7 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 22. Research spans Basic Science / Preclinical (43%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Recent Publications

Brown BN (2026). [PMID: 42160398](https://pubmed.ncbi.nlm.nih.gov/42160398/). *PLoS Genet*. [Basic Science / Preclinical]
Adarsha N (2026). [PMID: 41673450](https://pubmed.ncbi.nlm.nih.gov/41673450/). *J Hum Genet*. [Review / Meta-Analysis]
Ahmad R (2025). [PMID: 40858856](https://pubmed.ncbi.nlm.nih.gov/40858856/). *Cerebellum*. [Basic Science / Preclinical]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]
Yahia A (2024). [PMID: 37012327](https://pubmed.ncbi.nlm.nih.gov/37012327/). *Eur J Hum Genet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616948

Questions for Your Care Team

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spinocerebellar ataxia, autosomal recessive 22

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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