Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2024 Jan 31

PMID 38291837

Authors

Camila C Lobo

Guilherme S O Wertheimer

Gabriel S Schmitt

Paula C A A P Matos

Thiago J R Rezende

Joyce M Silva

Fabricio C Borba

Fabricio D Lima

Alberto R M Martinez

Orlando G P Barsottini

Jose Luiz Pedroso

Wilson Marques Jr

Marcondes C Franca Jr

Affiliations

Soon will be listed here.

Abstract

Background: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear.

Objectives: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA-C.

Methods: Seventeen individuals with RFC1/CANVAS, 57 with SCA (types 2, 3 and 6), 11 with MSA-C and 15 healthy controls were enrolled. The Balanced Fast Field Echo sequence was used for assessment of cranial nerves. Images were reviewed by a neuroradiologist, who classified these nerves as atrophic or normal, and subsequently the CNV was segmented manually by an experienced neurologist. Both assessments were blinded to patient and clinical data. Non-parametric tests were used to assess between-group comparisons.

Results: Atrophy of CNV and CNVIII, both alone and in combination, was significantly more frequent in the RFC1/CANVAS group than in healthy controls and all other ataxia groups. Atrophy of CNV had the highest sensitivity (82%) and combined CNV and CNVIII atrophy had the best specificity (92%) for diagnosing RFC1/CANVAS. In the quantitative analyses, CNV was significantly thinner in the RFC1/CANVAS group relative to all other groups. The cutoff CNV diameter that best identified RFC1/CANVAS was ≤2.2 mm (AUC = 0.91; sensitivity 88.2%, specificity 95.6%).

Conclusion: MRI evaluation of CNV and CNVIII using a dedicated sequence is an easy-to-use tool that helps to distinguish RFC1/CANVAS from SCA and MSA-C.

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