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Updated: Mar 14, 2026

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在MCM3AP相关疾病中具有广泛结的运动神经病变:临床和肌肉MRI洞察力

Ana Flávia Andrade Lemos¹, Rodrigo Siqueira Soares Frezatti¹, Antônio Carlos Dos Santos¹

¹Department of Neurosciences and Behavior Sciences. School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.

Journal of the peripheral nervous system : JPNS

|March 12, 2026

概括

这项研究详细介绍了一名患有MCM3AP基因变异的患者出现了运动神经病变,扩大了已知的遗传性疾病谱. 独特的肌肉MRI发现和电生理学证实了诊断.

科学领域:

遗传学是一个遗传学.
神经学神经学
分子生物学分子生物学

背景情况:

在MCM3AP (编码GANP) 中的双性致病变体与自体递归的外围神经病变有关.
之前的报告没有记录前角细胞参与MCM3AP相关疾病.

研究的目的:

描述一个患有双性MCM3AP变异的患者,呈现出运动神经病变的表型.
为这个基因提供了第一个全身肌肉MRI特征.

主要方法:

整体外基因组测序发现了MCM3AP变体.
电子神经肌谱评估了神经和肌肉功能.
全身肌肉的MRI特征脂肪透模式.

主要成果:

一名53岁的妇女出现了早期发病的运动神经病变和学习困难.
电子神经肌造影显示了扩散性化.
肌肉MRI揭示了一种选择性的,不依赖长度的脂肪透模式.

结论:

这一案例扩大了MCM3AP疾病的范围,包括非综合征性运动神经病变.
这些发现突显了遗传性运动神经病变和前角细胞疾病之间的重叠.
综合临床,神经生理和遗传评估至关重要.

关键词:

在MCM3AP中,MCM3AP是最重要的.案例报告案例报告运动神经病变是一种运动神经病变.肌肉核磁共振成像 (MRI) 肌肉核磁共振成像不为5q的SMA.

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