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autosomal recessive cerebellar ataxia with late-onset spasticity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive cerebellar ataxia with late-onset spasticity

MONDO:0018129

Also known as:autosomal recessive cerebellar ataxia due to GBA2 deficiency

Find Clinical TrialsTrials

Overview

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.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (7 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for autosomal recessive cerebellar ataxia with late-onset spasticity. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

Selmaj I (2026). [PMID: 41913895](https://pubmed.ncbi.nlm.nih.gov/41913895/). *Ther Adv Neurol Disord*. [Case Report / Case Series]
Borel F (2026). [PMID: 41483232](https://pubmed.ncbi.nlm.nih.gov/41483232/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Review / Meta-Analysis]
De Riso G (2025). [PMID: 39853590](https://pubmed.ncbi.nlm.nih.gov/39853590/). *Cerebellum (London, England)*. [Basic Science / Preclinical]
Aloisio S (2025). [PMID: 40824590](https://pubmed.ncbi.nlm.nih.gov/40824590/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:352641

GARD

Genetic and Rare Diseases Info Center

GARD:21525

Questions for Your Care Team

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autosomal recessive cerebellar ataxia with late-onset spasticity

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team