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spinocerebellar ataxia type 19/22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 19/22

MONDO:0011819

Also known as:SCA19/22spinocerebellar ataxia type 19SCA19

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Overview

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.

GeneticsAutosomal dominant · KCND3 (chr 1)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (8 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) and Gait ataxia; and very common findings: Dysarthria. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Hyporeflexia, Difficulty swallowing (dysphagia), Truncal ataxia

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.

KCND3 encodes potassium voltage-gated channel subfamily D member 3 (655 aa). Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart. Highest expression in Brain Cerebellar Hemisphere (62.6 TPM) and Brain Cerebellum (56.0 TPM).

Spinocerebellar ataxia type 19/22 is associated with mutations in the KCND3 gene on chromosome 1.

The KCND3 protein participates in KCND tetramer:KCNIP tetramer transport K+ from cytosol to extracellular region pathway.

KCND3 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 3.3.

Diagnosis

Genetic testing for KCND3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for spinocerebellar ataxia type 19/22. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Review / Meta-Analysis (13%).

Recent Publications

Ishibashi K (2026). [PMID: 41686818](https://pubmed.ncbi.nlm.nih.gov/41686818/). *Clin Nucl Med*. [Epidemiology / Natural History]
Ma CY (2026). [PMID: 41554439](https://pubmed.ncbi.nlm.nih.gov/41554439/). *Mech Ageing Dev*. [Basic Science / Preclinical]
Lee CJ (2025). [PMID: 40471914](https://pubmed.ncbi.nlm.nih.gov/40471914/). *Acta Neurol Taiwan*. [Review / Meta-Analysis]
Arancibia F (2025). [PMID: 40140957](https://pubmed.ncbi.nlm.nih.gov/40140957/). *Biol Res*. [Basic Science / Preclinical]
Hsiao CT (2025). [PMID: 40293501](https://pubmed.ncbi.nlm.nih.gov/40293501/). *Cell Mol Life Sci*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:06 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607346

Orphanet

European rare disease database

Orphanet:98772

GARD

Genetic and Rare Diseases Info Center

GARD:12365

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for KCND3, 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 19/22

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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