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spinocerebellar ataxia, autosomal recessive 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 28

MONDO:0032923

Also known as:THG1L-related autosomal recessive congenital cerebellar ataxiaSCAR28

Overview

GeneticsAutosomal recessive · THG1L (chr 5)

ResearchLimited published research (2 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 always present findings: Dysarthria and Motor delay; and very common findings: Cerebellar vermis hypoplasia and Abnormal pyramidal sign. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Gait ataxia, Dysarthria

Genetic Landscape

THG1L function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 28 has limited evidence linking it to mutations in the THG1L gene on chromosome 5.

Diagnosis

Genetic testing for THG1L is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 2 common 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 28.

3 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 28. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (100%).

Recent Publications

Chamova T (2025). [PMID: 40565533](https://pubmed.ncbi.nlm.nih.gov/40565533/). *Genes (Basel)*. [Case Report / Case Series]
Sarma GR (2025). [PMID: 39934002](https://pubmed.ncbi.nlm.nih.gov/39934002/). *Ann Indian Acad Neurol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:20 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618800

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 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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