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spinocerebellar ataxia type 29 (SCA29) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 29

MONDO:0007298

Also known as:SCA29congenital nonprogressive spinocerebellar ataxiaspinocerebellar ataxia 29, congenital nonprogressive

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Overview

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

GeneticsAutosomal dominant · ITPR1 (chr 3)

Clinical Trials1 registered · 1 recruiting

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: Decreased body weight, Inability to walk, Strabismus, and Dystonia and others; and very common findings: Tremor, Dysmetria, Intention tremor, and Delayed speech and language development and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	31	Inability to walk, Dystonia, Focal impaired awareness 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.

ITPR1 encodes inositol 1,4,5-trisphosphate receptor type 1 (2,758 aa). Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER). Highest expression in Artery Tibial (82.0 TPM) and Brain Cerebellum (76.2 TPM).

Spinocerebellar ataxia type 29 is caused by mutations in the ITPR1 gene on chromosome 3.

The ITPR1 protein participates in AHCYL1:NAD+:ITPR1:I(1,4,5)P3 tetramer and VDAC1,2,3 translocate calcium from the cytosol to the mitochondrial intermembrane space pathways.

ITPR1 is classified as a druggable target (Druggable Genome, Ion Channel, Kinase, and Transporter categories) with score 5.8.

Diagnosis

Genetic testing for ITPR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 58 always present features, 7 very common features, 20 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

4 publications have been identified in PubMed for spinocerebellar ataxia type 29. Research spans Case Report / Case Series (100%).

Recent Publications

Ordaz T (2026). [PMID: 40968496](https://pubmed.ncbi.nlm.nih.gov/40968496/). *Am J Med Genet A*. [Case Report / Case Series]
Cardoso-Teixeira P (2026). [PMID: 42165520](https://pubmed.ncbi.nlm.nih.gov/42165520/). *Eur J Ophthalmol*. [Case Report / Case Series]
In Lee J (2024). [PMID: 38860480](https://pubmed.ncbi.nlm.nih.gov/38860480/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Li R (2024). [PMID: 39011359](https://pubmed.ncbi.nlm.nih.gov/39011359/). *Front Neurol*. [Case Report / Case Series]

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:117360

Orphanet

European rare disease database

Orphanet:208513

GARD

Genetic and Rare Diseases Info Center

GARD:10480

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 ITPR1, 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?

← Back to All Diseases

Kisho

spinocerebellar ataxia type 29

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Rare but Instructive: Pediatric-Onset Spinocerebellar Ataxia Type 2 and Its Clinical and Genetic Insights.

spinocerebellar ataxia type 29

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

Explore clinical features

Latest News & Developments

Rare but Instructive: Pediatric-Onset Spinocerebellar Ataxia Type 2 and Its Clinical and Genetic Insights.