spinocerebellar ataxia 47
Findings
No curated finding names spinocerebellar ataxia 47 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.
Definition from the Mondo Disease Ontology (MONDO:0033482), read 2026-09-29. CC BY 4.0.
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.
- PUM1HGNC:14957
- Moderate · Illumina · Autosomal dominant · 2022
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: spinocerebellar ataxia 47
- Also called
- PUM1-related cerebellar ataxia