ArticleBrain and behavior2022
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS.
Article in Brain and behavior, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 3 of them syntheses that pooled it.
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Who cites it
7 citing papers in PubMed, 3 syntheses or guidelines pooled it, 10 citations in OpenAlex.
- Prevalence of vestibulo-ocular reflex dysfunction in people with neurological disorders: a systematic review and meta-analysis.Journal of neurology · 2026Pooled it
- Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.Cerebellum (London, England) · 2025Pooled it
- The Spectrum of Peripheral-Vestibular Deficits and Their Change Over Time in CANVAS/RFC1-Related Ataxia Systematic Review and Meta-Analysis of Quantitative Head-Impulse Testing.Cerebellum (London, England) · 2025Pooled it
- Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.Journal of neurology · 2026Article
- Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.Journal of neurology · 2024Article
- Frequency and Phenotype ofNeurology · 2023Article
- Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS.Brain and behavior · 2022Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo investigate the association between disease duration and the severity of bilateral vestibulopathy in individuals with complete or incomplete CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome) and biallelic RFC1 repeat expansions.
methodsRetrospective analysis of clinical data and the vestibulo-ocular reflex quantified by the video head impulse test in 20 patients with confirmed biallelic RFC1 repeat expansions.
resultsVestibulo-ocular reflex gain at first admittance 6.9 ± 5.0 years after disease onset was 0.16 [0.15-0.31] (median [interquartile range]). Cross-sectional analysis revealed that gain reduction was associated with disease duration. Follow-up measurements were available for ten individuals: eight of them exhibited a progressive decrease of the vestibulo-ocular reflex gain over time. At the first visit, six of all patients (30%) did not show clinical signs of cerebellar ataxia.
conclusionsOur data suggest a pathological horizontal head impulse test, which can easily be obtained in many outpatient clinics, as a sign of bilateral vestibulopathy in genetically confirmed CANVAS that can precede clinically accessible cerebellar ataxia at least in a subset of patients. The presumably continuous decline over time possibly reflects the neurodegenerative character of the disease. Thus, genetic testing for RFC1 mutations in (isolated) bilateral vestibulopathy might allow disease detection before the onset of cerebellar signs. Further studies including a wider spectrum of vestibular function tests are warranted in a prospective design.
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