Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS
Abstract 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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-06-01
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| Series: | Brain and Behavior |
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| Online Access: | https://doi.org/10.1002/brb3.2546 |
| _version_ | 1827877394248105984 |
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| author | Max Borsche Vera Tadic Inke R. König Katja Lohmann Christoph Helmchen Norbert Brüggemann |
| author_facet | Max Borsche Vera Tadic Inke R. König Katja Lohmann Christoph Helmchen Norbert Brüggemann |
| author_sort | Max Borsche |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-12T17:35:38Z |
| format | Article |
| id | doaj.art-805daff9c34b4f38a4f488b266145174 |
| institution | Directory Open Access Journal |
| issn | 2162-3279 |
| language | English |
| last_indexed | 2024-03-12T17:35:38Z |
| publishDate | 2022-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Brain and Behavior |
| spelling | doaj.art-805daff9c34b4f38a4f488b2661451742023-08-04T11:01:02ZengWileyBrain and Behavior2162-32792022-06-01126n/an/a10.1002/brb3.2546Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVASMax Borsche0Vera Tadic1Inke R. König2Katja Lohmann3Christoph Helmchen4Norbert Brüggemann5Institute of Neurogenetics University of Lübeck Lübeck GermanyInstitute of Neurogenetics University of Lübeck Lübeck GermanyInstitute of Medical Biometry and Statistics University of Lübeck Lübeck GermanyInstitute of Neurogenetics University of Lübeck Lübeck GermanyDepartment of Neurology University Medical Center Schleswig‐Holstein Campus Lübeck Lübeck GermanyInstitute of Neurogenetics University of Lübeck Lübeck GermanyAbstract 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.https://doi.org/10.1002/brb3.2546ataxiabilateral vestibulopathyCANVASRFC1vestibulo‐ocular reflexvideo head impulse test |
| spellingShingle | Max Borsche Vera Tadic Inke R. König Katja Lohmann Christoph Helmchen Norbert Brüggemann Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS Brain and Behavior ataxia bilateral vestibulopathy CANVAS RFC1 vestibulo‐ocular reflex video head impulse test |
| title | Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS |
| title_full | Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS |
| title_fullStr | Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS |
| title_full_unstemmed | Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS |
| title_short | Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS |
| title_sort | head impulse testing in bilateral vestibulopathy in patients with genetically defined canvas |
| topic | ataxia bilateral vestibulopathy CANVAS RFC1 vestibulo‐ocular reflex video head impulse test |
| url | https://doi.org/10.1002/brb3.2546 |
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