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患有线粒体疾病和新型TTC19变体的患者的运动神经病变:一个未被认可的表型特征

Daniele Mandia¹, Charline Benoit², Tanya Stojkovic³

¹AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department, Paris, France.

Journal of the peripheral nervous system : JPNS

|September 14, 2025

概括

这项研究详细介绍了一种新型的TTC19基因变异,该变异导致了罕见的线粒体疾病,其中包括中枢神经系统和外周运动神经病变. 这些发现强调了运动神经病变作为TTC19疾病谱的一部分,有助于诊断.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
线粒体生物学线粒体生物学

背景情况:

TTC19对于线粒体复合体III组装至关重要.
在TTC19的致病变体导致神经和精神特征的罕见线粒体疾病,经常在莱氏综合征的频谱内.
在与TTC19相关的疾病中,外周运动参与很少被记录.

研究的目的:

在患者中报告一种新的TTC19变异,该患者的中部和外周运动系统的综合参与.
提供有关TTC19相关疾病中外围神经病变的详细神经生理学数据.
扩大对TTC19基因变异的表型谱的理解.

主要方法:

一名男性患者的病例报告,患有早期发病的动脉缩和后来发展的神经病变.
大脑MRI用于评估中枢神经系统的异常.
鉴定一种新型同卵性TTC19无意义变异的基因检测 (c.235G>T, p.
电生理学研究以表征外围神经病变.

主要成果:

这位患者出现了小脑动力衰竭,注意力缺陷,失联症,消化障碍,失调执行综合征和纯远端运动神经病变.
大脑MRI显示T2-FLAIR高强度在基底和脑干,与进展和空洞化.
神经生理学研究证实了扩散的,轴突的,纯远端运动神经病变.
患者经历了急性恶化,导致四重和呼吸衰竭,与严重的线粒体疾病一致.

结论:

这一案例支持纯运动神经病变作为TTC19相关疾病谱的一部分.
雷氏综合征MRI发现和运动神经病变的结合是关键的诊断指标.
建议在重叠中央和外周运动症状的患者中优先进行TTC19遗传测试.

关键词:

李氏综合征 (Leigh综合征) 是一种在TTC19中,线粒体疾病是线粒体疾病.运动神经病变是一种运动神经病变.呼吸链复合物III 呼吸链复合物III

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