autosomal recessive ataxia, Beauce type
Findings
No curated finding names autosomal recessive ataxia, Beauce type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.
Definition from the Mondo Disease Ontology (MONDO:0012549), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
49 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.
- Cerebellar atrophyHPOHP:0001272
- 34 of 34 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 53 of 53 reported patients
- Occasional (5% to 29% of cases)
- Gait ataxiaHPOHP:0002066
- 52 of 53 reported patients
- Limb ataxiaHPOHP:0002070
- 52 of 53 reported patients
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
Show the remaining 37
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Short attention spanHPOHP:0000736
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Jerky ocular pursuit movementsHPOHP:0008003
- 23 of 51 reported patients
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.
- SYNE1HGNC:17089
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: autosomal recessive ataxia, Beauce type
- Also called
- ARCA1autosomal recessive cerebellar ataxia type 1SCAR8spinocerebellar ataxia, autosomal recessive type 8