spinocerebellar ataxia type 1
Findings
No curated finding names spinocerebellar ataxia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0008119), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
50 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.
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 9 of 9 reported patients
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Abnormal flash visual evoked potentialsHPOHP:0007928
- Frequent (30% to 79% of cases)
- Abnormal nerve conduction velocityHPOHP:0040129
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
Show the remaining 38
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- InertiaHPOHP:0030216
- 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.
- ATXN1HGNC:10548
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia type 1
- Also called
- ATXN1 autosomal dominant cerebellar ataxia type Iautosomal dominant cerebellar ataxia type I caused by mutation in ATXN1SCA1