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spinocerebellar ataxia type 35 (SCA35) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 35

MONDO:0013485

Also known as:SCA35spinocerebellar ataxia 35

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.

GeneticsAutosomal dominant · TGM6 (chr 20)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (3 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 very common findings: Progressive cerebellar ataxia. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Difficulty walking (gait disturbance), Babinski sign, Dysarthria

Genetic Landscape

TGM6 function has not been fully characterized.

Spinocerebellar ataxia type 35 is associated with mutations in the TGM6 gene on chromosome 20.

Diagnosis

Genetic testing for TGM6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 10 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.

3 publications have been identified in PubMed for spinocerebellar ataxia type 35. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Attar A (2026). [PMID: 41636949](https://pubmed.ncbi.nlm.nih.gov/41636949/). *Cerebellum*. [Review / Meta-Analysis]
Li J (2026). [PMID: 42081010](https://pubmed.ncbi.nlm.nih.gov/42081010/). *Cerebellum*. [Case Report / Case Series]
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, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613908

Orphanet

European rare disease database

Orphanet:276193

GARD

Genetic and Rare Diseases Info Center

GARD:12366

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 TGM6, 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 35

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

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.

spinocerebellar ataxia type 35

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

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.