autosomal recessive cerebellar ataxia with late-onset spasticity
Findings
No curated finding names autosomal recessive cerebellar ataxia with late-onset spasticity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0018129), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormal saccadic eye movementsHPOHP:0000570
- Frequent (30% to 79% of cases)
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- Dysphagia
Show the remaining 12
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
- Spastic dysarthriaHPOHP:0002464
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Occasional (5% to 29% of cases)
- Distal amyotrophyHPOHP:0003693
- Occasional (5% to 29% of cases)
- Head tremorHPOHP:0002346
- Occasional (5% to 29% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- 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.
- GBA2HGNC:18986
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive cerebellar ataxia with late-onset spasticity
- Also called
- autosomal recessive cerebellar ataxia due to GBA2 deficiency