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Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS
Author(s) -
Borsche Max,
Tadic Vera,
König Inke R.,
Lohmann Katja,
Helmchen Christoph,
Brüggemann Norbert
Publication year - 2022
Publication title -
brain and behavior
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.915
H-Index - 41
ISSN - 2162-3279
DOI - 10.1002/brb3.2546
Subject(s) - medicine , ataxia , reflex , cerebellar ataxia , vestibular system , vestibulo–ocular reflex , vertigo , interquartile range , audiology , surgery , psychiatry
Background To 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. Methods Retrospective 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. Results Vestibulo‐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. Conclusions Our 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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