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spinocerebellar ataxia type 41 (SCA41) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 41

MONDO:0014626

Also known as:SCA41spinocerebellar ataxia 41

Overview

Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.

GeneticsAutosomal dominant · TRPC3 (chr 4)

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: Unsteady gait; and common findings: Gait ataxia, Postural instability, and Cerebellar vermis atrophy. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Gait ataxia, Ataxia, Unsteady gait

Genetic Landscape

TRPC3 function has not been fully characterized.

Spinocerebellar ataxia type 41 is associated with mutations in the TRPC3 gene on chromosome 4.

Diagnosis

Genetic testing for TRPC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia type 41 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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.

No clinical trials have been registered for spinocerebellar ataxia type 41.

40 publications have been identified in PubMed for spinocerebellar ataxia type 41. Research spans Review / Meta-Analysis (20%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	8	20%

Data assembled from 6 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:616410

Orphanet

European rare disease database

Orphanet:458798

GARD

Genetic and Rare Diseases Info Center

GARD:17810

Questions for Your Care Team

→Should I pursue genetic testing for TRPC3, 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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Kisho

spinocerebellar ataxia type 41

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia type 41

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications