Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

ABSTRACT:

Background

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) presents an unpredictable and uneven clinical development of cerebellar ataxia, neuropathy, and vestibular areflexia. The aim of this study is to report the variability of vestibular test results in genetically confirmed patients with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.

Methods

Caloric testing, video head impulse test (vHIT), and rotatory chair testing were performed in 7 patients who presented pathogenic repeat expansions in the replication factor complex unit 1 gene related to cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.

Results

Reduced vestibulo-ocular reflex (VOR) gain was observed in 100% of the patients in rotatory chair testing

SUBMITTER: Fernandez-Rueda M 

PROVIDER: S-EPMC10645153 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature