autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Findings
No curated finding names autosomal recessive cerebellar ataxia-saccadic intrusion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.
Definition from the Mondo Disease Ontology (MONDO:0011811), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
32 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.
- Gait ataxiaHPOHP:0002066
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- 10 of 12 reported patients
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 10 of 12 reported patients
- Abnormal lower motor neuron morphologyHPOHP:0002366
- Very frequent (80% to 99% of cases)
- Abnormal visual fixationHPOHP:0025404
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
- VPS13DHGNC:23595
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Illumina · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- VPS41HGNC:12713
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
- Also called
- SCAR4SCASI