spinocerebellar ataxia type 27
Findings
No curated finding names spinocerebellar ataxia type 27 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
Definition from the Mondo Disease Ontology (MONDO:0012247), read 2026-09-29. CC BY 4.0.
Features
19 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)
- Gaze-evoked nystagmusHPOHP:0000640
- Very frequent (80% to 99% of cases)
- TremorHPOHP:0001337
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Limb ataxiaHPOHP:0002070
- Frequent (30% to 79% of cases)
- Memory impairmentHPOHP:0002354
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
- Sensory axonal neuropathyHPOHP:0003390
- Frequent (30% to 79% of cases)
- Truncal ataxiaHPOHP:0002078
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
Show the remaining 7
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
- Hand tremorHPOHP:0002378
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- Red-green dyschromatopsiaHPOHP:0000642
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
- AkinesiaHPOHP:0002304
- 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.
- FGF14HGNC:3671
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 27
- Also called
- SCA27