spinocerebellar ataxia type 17
Findings
No curated finding names spinocerebellar ataxia type 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0011781), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
20 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.
- DementiaHPOHP:0000726
- 5 of 5 reported patients
- AtaxiaHPOHP:0001251
- 12 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
Show the remaining 8
- Involuntary movementsHPOHP:0004305
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- Neuronal loss in central nervous systemHPOHP:0002529
- Frequent (30% to 79% of cases)
- ParkinsonismHPOHP:0001300
- Frequent (30% to 79% of cases)
- RigidityHPOHP:0002063
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- 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.
- TBPHGNC:11588
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
11 names
Resolves to: spinocerebellar ataxia type 17
- Also called
- cerebelloparenchymal disorder IICPD2HDL4Huntington disease-like 4olivopontocerebellar atrophy 5olivopontocerebellar atrophy type 5OPCA VOPCA with dementia and extrapyramidal signsSCA 17SCA17spinocerebellar ataxia 17