spinocerebellar ataxia type 31
Findings
No curated finding names spinocerebellar ataxia type 31 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
Definition from the Mondo Disease Ontology (MONDO:0007296), read 2026-09-29. CC BY 4.0.
Features
11 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 atrophyHPOHP:0001272
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- Gait ataxiaHPOHP:0002066
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
- Hyperactive deep tendon reflexesHPO
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.
- BEAN1HGNC:24160
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Unknown · 2018
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 31
- Also called
- SCA31