Evidence map›Paper›PMID 41689662›Full record

ArticleJournal of neurology2026

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.

Renana Storm, Bente Lübbers, Max Borsche, Emmelie Weiss, Astrid Nümann, Christos Ganos, Norbert Brüggemann, Christoph Helmchen, Andreas Sprenger

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Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Renana StormDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.ORCID http://orcid.org/0009-0007-8111-6281
Bente LübbersDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
Max BorscheDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
Emmelie WeissDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
Astrid NümannDepartment of Neurology With Experimental Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.
Christos GanosEdmond J Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, Toronto, ON, Canada.
Norbert BrüggemannDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
Christoph HelmchenDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany. christoph.helmchen@uni-luebeck.de.ORCID http://orcid.org/0000-0003-2493-2294
Andreas SprengerDepartment of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBiallelic intronic repeat expansions in the RFC1 gene are associated with the cerebellar ataxia, neuropathy, and vestibular areflexia (bilateral vestibulopathy) syndrome (CANVAS). Oculomotor abnormalities may serve as a state marker exclusively reflecting the midline cerebellar involvement in CANVAS, i.e., independent of the combined disorders affecting the patient's postural control stance and gait.

methodsSlow and fast eye movements of 15 CANVAS patients and 14 healthy subjects were compared using a high-resolution video-based eye tracker allowing to record visually-guided saccades, gaze-holding function and smooth pursuit paradigms. Scores of cognitive impairment were related to oculomotor performance.

resultsSaccades (latency, metria, velocity) were normal. Small amplitude omnidirectional gaze-holding deficit was found in 70% of patients, with downbeat nystagmus (60%) being more common than upbeat nystagmus (13%). Latency of initial acceleration of smooth pursuit was prolonged and there was severe impairment of smooth pursuit eye movements. Montreal Cognitive Assessment (MoCA) scores were lower in patients and correlated with saccade and pursuit latency and initial acceleration. Disease duration and vestibulopathy correlated with no oculomotor abnormalities.

conclusionCerebellar oculomotor dysfunction affected mainly smooth pursuit and gaze holding function at eccentric gaze positions, but it did neither comprise spontaneous nystagmus nor saccade abnormalities. Prolonged latencies in initial pursuit acceleration might be related to the patient's cognitive decline, but normal saccade latencies point to cerebellar oculomotor neurodegeneration. Smooth pursuit impairment was not related to disease duration and vestibulopathy, contrariwise pursuit impairment became worse with larger functional impairment. Oculomotor abnormalities in CANVAS are in line with midline cerebellar impairment without evidence for extracerebellar (brainstem) brain involvement.

Indexed as

Bilateral VestibulopathyCerebellar AtaxiaOcular Motility DisordersAdultAgedCognitive DysfunctionFemaleHumansMaleMiddle AgedNystagmus, PathologicPursuit, SmoothSaccadesCANVASNystagmusOculomotorRFC1Saccades

Identifiers

PMID41689662
PMCPMC12906546

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.