spinocerebellar ataxia type 26
Findings
No curated finding names spinocerebellar ataxia type 26 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0012246), 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.
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- Impaired horizontal smooth pursuitHPOHP:0001151
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Dysmetric saccadesHPOHP:0000641
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Truncal ataxiaHPOHP:0002078
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
- Generalized hyperreflexiaHPOHP:0007034
- Occasional (5% to 29% of cases)
Reported absent (4)
- FasciculationsHPOHP:0002380
- ParalysisHPOHP:0003470
- SeizureHPOHP:0001250
- Somatic sensory dysfunctionHPOHP:0003474
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.
- EEF2HGNC:3214
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2026
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 26
- Also called
- SCA26