spinocerebellar ataxia type 2
Findings
No curated finding names spinocerebellar ataxia type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Definition from the Mondo Disease Ontology (MONDO:0008458), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Young adult onset
HPO, annotations 2026-09-02
Features
33 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.
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abnormal substantia nigra morphologyHPOHP:0045007
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- 2 of 3 reported patients
- DysphagiaHPOHP:0002015
- 2 of 3 reported patients
- Unsteady gait
Show the remaining 21
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Kinetic tremorHPOHP:0030186
- Frequent (30% to 79% of cases)
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.
- ATXN2HGNC:10555
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: spinocerebellar ataxia type 2
- Also called
- ATXN2 autosomal dominant cerebellar ataxia type Iautosomal dominant cerebellar ataxia type I caused by mutation in ATXN2OPCA2SCA2