Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spinocerebellar ataxia type 15/16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 15/16

MONDO:0011694

Also known as:SCA15/16SCAR16spinocerebellar ataxia type 15

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.

GeneticsAutosomal dominant · ITPR1 (chr 3)

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), Impaired tandem gait, Gait ataxia, and Intention tremor and others; and common findings: Gaze-evoked nystagmus, Difficulty swallowing (dysphagia), Hypometric saccades, and Dysarthria and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	20	Scanning speech, Action tremor, Impaired tandem gait

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 15/16 is associated with 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: 12 always present features, 7 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 15/16. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Other (13%).

Recent Publications

Zheng KM (2026). [PMID: 41851873](https://pubmed.ncbi.nlm.nih.gov/41851873/). *BMC Neurol*. [Case Report / Case Series]
Masser-Mitchell BE (2025). [PMID: 41187652](https://pubmed.ncbi.nlm.nih.gov/41187652/). *Stem Cell Res*. [Basic Science / Preclinical]
Haddad S (2025). [PMID: 41325768](https://pubmed.ncbi.nlm.nih.gov/41325768/). *J Peripher Nerv Syst*. [Case Report / Case Series]
Agianda HAP (2025). [PMID: 39728009](https://pubmed.ncbi.nlm.nih.gov/39728009/). *Mov Disord Clin Pract*. [Other]
De Winter J (2025). [PMID: 39950762](https://pubmed.ncbi.nlm.nih.gov/39950762/). *Mov Disord*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606658

Orphanet

European rare disease database

Orphanet:98769 Orphanet:98770

GARD

Genetic and Rare Diseases Info Center

GARD:10477

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

spinocerebellar ataxia type 15/16

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