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spinocerebellar ataxia type 40 (SCA40) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 40

MONDO:0014475

Also known as:SCA40spinocerebellar ataxia 40

Overview

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

GeneticsAutosomal dominant · CCDC88C (chr 14)

ResearchLimited published research (4 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: Scanning speech, Pontocerebellar atrophy, Broad-based gait, and Dysmetria and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Scanning speech, Broad-based gait, Gait ataxia
Muscles

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.

CCDC88C encodes coiled-coil and HOOK domain protein 88C (2,028 aa). Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling. Highest expression in Cells EBV-transformed lymphocytes (36.3 TPM) and Spleen (31.0 TPM).

Spinocerebellar ataxia type 40 is associated with mutations in the CCDC88C gene on chromosome 14.

The CCDC88C protein participates in Negative regulation of TCF-dependent signaling by DVL-interacting proteins pathway.

CCDC88C is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CCDC88C is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 type 40.

4 publications have been identified in PubMed for spinocerebellar ataxia type 40. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Onder H (2026). [PMID: 41504964](https://pubmed.ncbi.nlm.nih.gov/41504964/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum (London, England)*. [Review / Meta-Analysis]
Gogus B (2024). [PMID: 38587696](https://pubmed.ncbi.nlm.nih.gov/38587696/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Epidemiology / Natural History]
Cui ZT (2024). [PMID: 38894941](https://pubmed.ncbi.nlm.nih.gov/38894941/). *Frontiers in neuroscience*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616053

Orphanet

European rare disease database

Orphanet:423275

GARD

Genetic and Rare Diseases Info Center

GARD:12371

Questions for Your Care Team

→Should I pursue genetic testing for CCDC88C, 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?

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spinocerebellar ataxia type 40

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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