颅神经变薄可将 RFC1 相关疾病与其他晚发性共济失调区分开来。
Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.
机构信息
Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Department of Radiology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
出版信息
Mov Disord Clin Pract. 2024 Jan;11(1):45-52. doi: 10.1002/mdc3.13930. Epub 2023 Nov 29.
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.
背景
RFC1 相关疾病（RFC1/CANVAS）与其他迟发性共济失调（如脊髓小脑性共济失调[SCA]和多系统萎缩小脑型[MSA-C]）具有相似的临床特征。已经在 RFC1/CANVAS 的磁共振成像（MRI）扫描中报告了颅神经 V（CNV）和 VIII（CNVIII）变薄，但特异性尚不清楚。
目的
评估 CNV 和 CNVIII 变薄对区分 RFC1/CANVAS 与 SCA 和 MSA-C 的有用性。
方法
共纳入 17 例 RFC1/CANVAS 患者、57 例 SCA（类型 2、3 和 6）患者、11 例 MSA-C 患者和 15 例健康对照者。采用平衡快速场回波序列评估颅神经。由神经放射科医生对图像进行评估，将这些神经分类为萎缩或正常，随后由经验丰富的神经科医生手动分割 CNV。两次评估均对患者和临床数据进行了盲法评估。采用非参数检验进行组间比较。
结果
与健康对照组和所有其他共济失调组相比，仅 CNV 和 CNVIII 萎缩，以及两者均萎缩在 RFC1/CANVAS 组中更为常见。CNV 萎缩的敏感性最高（82%），CNV 和 CNVIII 联合萎缩的特异性最佳（92%），可用于诊断 RFC1/CANVAS。在定量分析中，与所有其他组相比，RFC1/CANVAS 组的 CNV 明显更薄。最佳区分 RFC1/CANVAS 的 CNV 直径截断值为≤2.2 mm（AUC=0.91；敏感性 88.2%，特异性 95.6%）。
结论
使用专用序列对 CNV 和 CNVIII 进行 MRI 评估是一种易于使用的工具，有助于将 RFC1/CANVAS 与 SCA 和 MSA-C 区分开来。
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