Charlevoix-Saguenay spastic ataxia
Findings
No curated finding names Charlevoix-Saguenay spastic ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0010041), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
52 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.
- AtaxiaHPOHP:0001251
- 16 of 16 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- 22 of 22 reported patients
- Hyperactive patellar reflexHPOHP:0007083
- 18 of 18 reported patients
- NystagmusHPOHP:0000639
- 18 of 18 reported patients
- Peroneal muscle atrophyHPOHP:0009049
- 18 of 18 reported patients · Adult onset
- Pontine T2 hypointensityHPOHP:4000169
- 8 of 8 reported patients
- Spastic gait
Show the remaining 40
- Abnormal motor evoked potentialsHPOHP:0012896
- Frequent (30% to 79% of cases)
- Abnormal pons morphologyHPOHP:0007361
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Arachnoid cystHPOHP:0100702
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- 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.
- SACSHGNC:10519
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Charlevoix-Saguenay spastic ataxia
- Also called
- ARSACSautosomal recessive spastic ataxia of Charlevoix-Saguenayautosomal recessive spastic ataxia type 6SPAX6