spinocerebellar ataxia type 6
Findings
No curated finding names spinocerebellar ataxia type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.
Definition from the Mondo Disease Ontology (MONDO:0008457), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Insidious onset · Juvenile onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
30 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
- 1 of 1 reported patient
- Progressive cerebellar ataxiaHPOHP:0002073
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 4 of 5 reported patients
- BradyopsiaHPOHP:0030511
- Very frequent (80% to 99% of cases)
- Gait ataxiaHPOHP:0002066
- Very frequent (80% to 99% of cases)
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- 3 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Choking episodesHPOHP:0030842
- Frequent (30% to 79% of cases)
- DiplopiaHPOHP:0000651
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 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.
- CACNA1AHGNC:1388
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia type 6
- Also called
- autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1ACACNA1A autosomal dominant cerebellar ataxia type IIISCA6