Bilateral vestibulopathy as the initial presentation of CANVAS.

Autor: Gordon CR; Department of Neurology, Meir Medical Center, Kfar Saba, Israel; Faculty of Medicine, Tel Aviv University, Israel. Electronic address: cgordon@post.tau.ac.il., Zaltzman R; Department of Neurology, Meir Medical Center, Kfar Saba, Israel., Geisinger D; Faculty of Medicine, Tel Aviv University, Israel; The Center for Psychobiological Research, Department of Psychology and Educational Counselling, Max Stern Yezreel Valley College, Israel., Elyoseph Z; The Center for Psychobiological Research, Department of Psychology and Educational Counselling, Max Stern Yezreel Valley College, Israel; Department of Brain Sciences, Faculty of Medicine, Imperial College London, United Kingdom., Gimmon Y; Department of Otolaryngology-Head and Neck Surgery, Sheba Medical Center, Tel-Hashomer, Israel; Department of Physical Therapy, Faculty of Social Welfare and Health Studies, University of Haifa, Israel.
Jazyk: angličtina
Zdroj: Journal of the neurological sciences [J Neurol Sci] 2024 May 15; Vol. 460, pp. 122990. Date of Electronic Publication: 2024 Apr 02.
DOI: 10.1016/j.jns.2024.122990
Abstrakt: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a slowly progressing autosomal recessive ataxic disorder linked to an abnormal biallelic intronic (most commonly) AAGGG repeat expansion in the replication factor complex subunit 1 (RFC1). While the clinical diagnosis is relatively straightforward when the three components of the disorder are present, it becomes challenging when only one of the triad (cerebellar ataxia, neuropathy or vestibular areflexia) manifests. Isolated cases of Bilateral Vestibulopathy (BVP) or vestibular areflexia that later developed the other components of CANVAS have not been documented. We report four cases of patients with chronic imbalance and BVP that, after several years, developed cerebellar and neuropathic deficits with positive genetic testing for RFC1. Our report supports the concept that CANVAS should be considered in every patient with BVP of unknown etiology, even without the presence of the other triad components. This is especially important given that about 50% of cases in many BVP series are diagnosed as idiopathic, some of which may be undiagnosed CANVAS.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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