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spinocerebellar ataxia, autosomal recessive 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 27

MONDO:0032706

Also known as:SCAR27

Overview

GeneticsAutosomal recessive · GDAP2 (chr 1)

ResearchLimited published research (9 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: Shrinkage of the cerebellum (cerebellar atrophy), Brisk reflexes, Overactive reflexes (hyperreflexia), and Scarring in the brain (gliosis) and others; and common findings: Gaze-evoked nystagmus, Cerebral cortical atrophy, Gait ataxia, and Gait imbalance and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Cerebral cortical atrophy, Gait ataxia, Gait imbalance

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.

GDAP2 encodes ganglioside induced differentiation associated protein 2 (497 aa). Highest expression in Testis (5.4 TPM) and Cervix Endocervix (4.7 TPM).

Spinocerebellar ataxia, autosomal recessive 27 is strongly associated with mutations in the GDAP2 gene on chromosome 1.

GDAP2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GDAP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 27 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 17 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 27.

9 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 27. Research spans Diagnostic / Biomarker (22%), Review / Meta-Analysis (22%), and Case Report / Case Series (22%).

Recent Publications

Zheng KM (2026). [PMID: 41851873](https://pubmed.ncbi.nlm.nih.gov/41851873/). *BMC Neurol*. [Case Report / Case Series]
Novis LE (2025). [PMID: 39920364](https://pubmed.ncbi.nlm.nih.gov/39920364/). *Cerebellum*. [Review / Meta-Analysis]
Ruggieri AG (2025). [PMID: 41373471](https://pubmed.ncbi.nlm.nih.gov/41373471/). *Int J Mol Sci*. [Case Report / Case Series]
Milne SC (2025). [PMID: 39520242](https://pubmed.ncbi.nlm.nih.gov/39520242/). *Ann Neurol*. [Clinical Trial Publication]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618369

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 27

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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