spinocerebellar ataxia type 41
Findings
No curated finding names spinocerebellar ataxia type 41 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014626), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient · Adult onset
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Postural instabilityHPOHP:0002172
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRPC3HGNC:12335
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 41
- Also called
- SCA41