spinocerebellar ataxia type 11
Findings
No curated finding names spinocerebellar ataxia type 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
Definition from the Mondo Disease Ontology (MONDO:0011464), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
17 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
- 9 of 9 reported patients
- DysarthriaHPOHP:0001260
- 21 of 21 reported patients
- Very frequent (80% to 99% of cases)
- Gait ataxiaHPOHP:0002066
- 21 of 21 reported patients
- HyperreflexiaHPOHP:0001347
- 18 of 18 reported patients
- Jerky ocular pursuit movementsHPOHP:0008003
- 18 of 18 reported patients
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- 18 of 18 reported patients
Show the remaining 5
- Horizontal nystagmusHPOHP:0000666
- Very frequent (80% to 99% of cases)
- Vertical nystagmusHPOHP:0010544
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very rare (1% to 4% of cases)
- DystoniaHPOHP:0001332
- Very rare (1% to 4% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very rare (1% to 4% 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.
- TTBK2HGNC:19141
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 11
- Also called
- SCA11