Case Summary
An 85-year-old man suffered from a 20-year history of idiopathic sensory neuronopathy (figure). Neurologic examination was characterized by severe sensory ataxia needing bilateral support during walking, subtle dysarthria, and reduced sensation for all modalities. Bedside head impulse test (HIT) revealed vestibular areflexia (video 1), arising suspicion of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), then confirmed by the presence of biallelic expansion in RFC1 gene.1 Clinical sensory involvement can be the only manifestation in some CANVAS patients,2 and HIT, although overlooked in neurologic examination, should be performed in all patients with sensory ataxia to raise suspicion of CANVAS.
Brain MR T1-weighted, midsagittal image shows cerebellar vermian atrophy. CANVAS = cerebellar ataxia, neuropathy and vestibular areflexia syndrome.
Video 1
Bedside Head Impulse Test is an easy, quick and efficient tool to examine vestibular-ocular reflex. The rapid rotation of the head in both directions revealed the presence of abnormal catch-up saccades to move the eyes back on visual target, and as a consequence of bilateral vestibular areflexia. Download Supplementary Video 1 via http://dx.doi.org/10.1212/000541_Video_1
Study Funding
A. Cortese thanks Medical Research Council (MR/T001712/1), Fondazione CARIPLO (2019-1836), Italian Ministry of Health Ricerca Corrente 2018-2019 and 2020 and the Inherited Neuropathy Consortium (INC) for grant support.
Disclosure
The authors declare no financial or other conflicts of interest. Go to Neurology.org/NG for full disclosures.
Appendix Authors
Footnotes
Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.
The Article Processing charge was funded by the Department of Neuroscience, Reproductive and Odontostomatology Science, University of Naples Federico II, Naples, Italy.
- Received October 2, 2020.
- Accepted in final form October 29, 2020.
- Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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