C9ORF72 相关性肌萎缩侧索硬化症的电生理学特征：一项回顾性研究。

Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.

机构信息

ALS Center, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C et Service d'explorations Fonctionnelles Neurologiques, Bron, France,

ALS Center, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C et Service d'explorations Fonctionnelles Neurologiques, Bron, France.

出版信息

Eur Neurol. 2019;82(4-6):106-112. doi: 10.1159/000505777. Epub 2020 Feb 4.

DOI:10.1159/000505777

PMID:32018264

Abstract

OBJECTIVE

C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS). The aim of the present study was to determine whether C9ORF72-associated ALS (C9-ALS) patients present distinctive electrophysiological characteristics that could differentiate them from non C9ORF72-associated ALS (nonC9-ALS) patients.

METHODS

Clinical and electrodiagnostic data from C9-ALS patients and nonC9-ALS patients were collected retrospectively. For electroneuromyography, the mean values of motor conduction, myography, and the mean values of sensory conduction were considered. Furthermore, the proportion of ALS patients with electrophysiological sensory neuropathy was determined.

RESULTS

No significant difference was observed between 31 C9-ALS patients and 22 nonC9-ALS patients for mean motor conduction and myography. For sensory conduction analyses, mean sensory conduction was not significantly different between both groups. In total, 38% of -C9-ALS patient and 21% of nonC9-ALS patients presented electrophysiological sensory neuropathy (p = 0.33). In -C9-ALS patients with electrophysiological sensory neuropathy, 80% (8/10) were male and 67% (6/9) presented spinal onset compare to 25% (4/16, p = 0.014) male and 25% (4/16, p = 0.087) with spinal onset in those without electrophysiological sensory neuropathy.

CONCLUSION

Although not different from nonC9-ALS, these results suggest that sensory involvement is a frequent feature of C9-ALS patients, expanding the phenotype of the disease beyond the motor and cognitive domains.

摘要

目的

C9ORF72 是肌萎缩侧索硬化症（ALS）最常见的遗传原因。本研究旨在确定 C9ORF72 相关 ALS（C9-ALS）患者是否存在独特的电生理特征，使其与非 C9ORF72 相关 ALS（nonC9-ALS）患者区分开来。

方法

回顾性收集 C9-ALS 患者和 nonC9-ALS 患者的临床和电诊断数据。对于神经电图检查，考虑了运动传导、肌电图和感觉传导的平均值。此外，还确定了具有电生理感觉神经病的 ALS 患者的比例。

结果

31 例 C9-ALS 患者和 22 例 nonC9-ALS 患者的平均运动传导和肌电图无显著差异。对于感觉传导分析，两组之间的平均感觉传导没有显著差异。总的来说，38%的-C9-ALS 患者和 21%的 nonC9-ALS 患者出现电生理感觉神经病（p=0.33）。在有电生理感觉神经病的 C9-ALS 患者中，80%（8/10）为男性，67%（6/9）为脊髓起病，而无电生理感觉神经病的患者中，25%（4/16，p=0.014）为男性，25%（4/16，p=0.087）为脊髓起病。