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spinocerebellar ataxia type 25 (SCA25) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 25

MONDO:0012103

Also known as:SCA25spinocerebellar ataxia 25

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Overview

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

GeneticsAutosomal dominant · PNPT1 (chr 2)

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: Ataxia and Decreased number of peripheral myelinated nerve fibers; and very common findings: Abolished vibration sense and Shrinkage of the cerebellum (cerebellar atrophy). 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Babinski sign, Dysarthria, Ataxia

Genetic Landscape

PNPT1 function has not been fully characterized.

Spinocerebellar ataxia type 25 is associated with mutations in the PNPT1 gene on chromosome 2.

Diagnosis

Genetic testing for PNPT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

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

Recent Publications

Zhou F (2025). [PMID: 41220167](https://pubmed.ncbi.nlm.nih.gov/41220167/). *Brain Behav*. [Case Report / Case Series]
Tenorio RB (2025). [PMID: 39899068](https://pubmed.ncbi.nlm.nih.gov/39899068/). *Cerebellum*. [Case Report / Case Series]
Cui ZT (2024). [PMID: 38894941](https://pubmed.ncbi.nlm.nih.gov/38894941/). *Front Neurosci*. [Review / Meta-Analysis]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608703

Orphanet

European rare disease database

Orphanet:101111

GARD

Genetic and Rare Diseases Info Center

GARD:9996

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 PNPT1, 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 25

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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