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spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

MONDO:0060758

Also known as:SCA42ND

Overview

GeneticsAutosomal dominant · CACNA1G (chr 17)

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 always present findings: Dysmetria, Ataxia, Delayed fine motor development, and Intellectual disability and others; and common findings: Strabismus, Seizure, Oculomotor apraxia, and Clinodactyly and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Inability to walk, Dystonia, Seizure

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.

CACNA1G encodes calcium voltage-gated channel subunit alpha1 G (2,377 aa). Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Highest expression in Brain Cerebellum (32.6 TPM) and Cervix Ectocervix (19.4 TPM).

Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits is associated with mutations in the CACNA1G gene on chromosome 17.

CACNA1G is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 2.2.

Diagnosis

Genetic testing for CACNA1G is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 6 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 42, early-onset, severe, with neurodevelopmental deficits.

4 publications have been identified in PubMed for spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Davakan A (2025). [PMID: 41111510](https://pubmed.ncbi.nlm.nih.gov/41111510/). *Front Pharmacol*. [Basic Science / Preclinical]
Qebibo L (2025). [PMID: 39674904](https://pubmed.ncbi.nlm.nih.gov/39674904/). *Genet Med*. [Basic Science / Preclinical]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum*. [Review / Meta-Analysis]
Szymanowicz O (2024). [PMID: 38785745](https://pubmed.ncbi.nlm.nih.gov/38785745/). *Diseases*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618087

Questions for Your Care Team

→Should I pursue genetic testing for CACNA1G, 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 42, early-onset, severe, with neurodevelopmental deficits

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

Questions for Your Care Team

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