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年轻人的孤立外围神经病变:综合基因检测的作用

Deepa Avadhani¹, Rithvik Ramesh², Lakshmi Narasimhan Ranganathan²

¹Department of Neurology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamilnadu, India doctoravadhanideepa@gmail.com.

BMJ case reports

|September 19, 2025

概括

脑干和脊髓受影响的白内障和乳酸升高,是一种罕见的遗传性疾病,可以由于DARS2基因突变而出现外周神经病变. 这一案例强调了在无法解释的神经病变中需要进行遗传测试的必要性.

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:

脑干和脊髓受影响和乳酸升高 (LBSL) 的白血脑病是一种自体递归性疾病.
它是由DARS2基因的突变引起的,该基因编码了阿斯巴丁转移RNA (tRNA) 合成酶,这对于蛋白质合成至关重要.
典型的LBSL症状包括发作,认知能力下降,动力衰弱,与中枢神经系统的参与.

研究的目的:

报告一个独特的LBSL病例,该病例仅表现为外围神经病变.
为了调查这种非典型呈现的遗传基础.
要突出与DARS2突变相关的表型变异性.

主要方法:

一个患有外围神经病变的患者的临床病例描述.
基因分析以确定DARS2基因中的突变.
对有关DARS2相关疾病的现有文献的综述.

主要成果:

该患者表现出模仿遗传运动和感官神经病变1型的外围神经病变.
基因分析发现了DARS2基因中的突变.
这一发现扩大了已知的DARS2突变的临床谱.

结论:

DARS2突变可以导致外围神经病变作为唯一或主要的表现.
综合基因检测对于诊断无法解释的神经病变至关重要.
需要进一步的研究来澄清鉴定到的DARS2变种的致病性.

关键词:

神经学神经学周围神经疾病的疾病.

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