spastic ataxia 1
MONDO:0007164Mondo
Findings
No curated finding names spastic ataxia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007164), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
23 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.
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Supranuclear gaze palsyHPOHP:0000605
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Gait disturbance
Show the remaining 11
- Spastic ataxiaHPOHP:0002497
- Frequent (30% to 79% of cases)
- Spastic dysarthriaHPOHP:0002464
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Spastic paraplegiaHPOHP:0001258
- Frequent (30% to 79% of cases)
- Abnormal eyelid morphologyHPOHP:0000492
- Occasional (5% to 29% of cases)
- DystoniaHPOHP:0001332
- Occasional (5% to 29% 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.
- VAMP1HGNC:12642
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: spastic ataxia 1
- Also called
- autosomal dominant spastic ataxia caused by mutation in VAMP1spastic ataxia type 1SPAX1VAMP1 autosomal dominant spastic ataxia