autosomal dominant cerebellar ataxia
Findings
No curated finding names autosomal dominant cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0020380), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- Spinocerebellar tract degenerationMondoHP:0002503
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.
- NPTX1HGNC:7952
- Limited · ClinGen · Autosomal dominant · 2024
Where it sits
- Narrower terms (16)
- autosomal dominant cerebellar ataxia type I
- autosomal dominant cerebellar ataxia type III
- autosomal dominant cerebellar ataxia type IV
- GRID2-related autosomal dominant spinocerebellar ataxia
- spinocerebellar ataxia 27A
- spinocerebellar ataxia 27B, late-onset
- spinocerebellar ataxia 43
- spinocerebellar ataxia 44
- spinocerebellar ataxia 47
- spinocerebellar ataxia 48
- spinocerebellar ataxia 49
- spinocerebellar ataxia 50
- spinocerebellar ataxia 51
- spinocerebellar ataxia 52
- spinocerebellar ataxia 7
- spinocerebellar ataxia 9
Other names
4 names
Resolves to: autosomal dominant cerebellar ataxia
- Also called
- ADCAAutosomal Dominant Hereditary Ataxiaautosomal dominant spinocerebellar ataxiacerebellar ataxia, autosomal dominant