Bilateral vestibulopathy as the initial presentation of CANVAS

Carlos R. Gordon, Roy Zaltzman, Dario Geisinger, Zohar Elyoseph, Yoav Gimmon

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number122990
JournalJournal of the Neurological Sciences
Volume460
DOIs
StatePublished - 15 May 2024

Bibliographical note

Publisher Copyright:
© 2024 Elsevier B.V.

Keywords

  • ataxia
  • Bilateral peripheral vestibulopathy
  • Cerebellar
  • Neuropathy
  • RFC1 expansion
  • Vestibular

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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