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spinocerebellar ataxia, autosomal recessive 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 26

MONDO:0033116

Also known as:SCAR26autosomal recessive spinocerebellar ataxia 26

Overview

GeneticsAutosomal recessive · XRCC1 (chr 19)

OnsetMIDDLE_AGE

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: Difficulty swallowing (dysphagia), Impaired distal proprioception, Dysmetria, and Shrinkage of the cerebellum (cerebellar atrophy) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Difficulty swallowing (dysphagia), Dysarthria, Gait ataxia

Genetic Landscape

XRCC1 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 26 is associated with mutations in the XRCC1 gene on chromosome 19.

Diagnosis

Genetic testing for XRCC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 26 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 18 always present features.

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 26.

12 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 26. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (25%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	4	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617633

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 26

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 26

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