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[与中枢神经系统脱髓化疾病相关的遗传性视神经病变]

D D Eliseeva¹, A K Kalashnikova², V V Bryukhov¹

¹Research Center of Neurology, Moscow, Russia.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

|August 10, 2023

概括

双边视神经病变,是脱髓化视神经炎和遗传性视神经病变 (HON) 的关键症状,导致视力丧失. 由于临床和放射学特征重叠,诊断这些疾病具有挑战性.

科学领域:

神经眼科神经眼科
神经遗传学神经遗传学
神经免疫学神经免疫学

背景情况:

双边视神经病变是脱髓化视神经炎和遗传性视神经病变 (HON) 的主要临床特征.
视神经炎与多发性硬化症 (MS),视神经炎光谱障碍 (NMOSD) 和MOG抗体疾病 (MOGAD) 有关.
遗传性视神经病变包括来自mtDNA突变的Leber遗传性视神经病变 (LHON) 和来自nDNA突变的自身遗传性衰退性视神经病变 (ARON).

研究的目的:

突出诊断的挑战,以区分脱髓化视神经炎和遗传性视神经病变.
讨论重叠的临床和放射学特征,使诊断复杂化.
探索HON和中枢神经系统脱髓化同时发生的表型.

主要方法:

对脱髓化和遗传性视神经病变的临床表现和诊断标准的审查.
分析与HON (mtDNA和nDNA) 相关的遗传突变.
在MS,NMOSD,MOGAD和HON中神经成像发现的比较.

主要成果:

同时或连续的视力敏度下降是这两种疾病类别的常见综合征.
LHON plus表型表明HON和中枢神经系统脱髓化同时发生.
诊断困难源于脱髓化和遗传性线粒体光学疾病之间共享的临床和放射性迹象.

结论:

在适当的患者管理中,精确区分脱髓化视神经炎和遗传性视神经病变至关重要.
基因检测和先进的神经成像对于解决诊断模两可的情况至关重要.
需要进一步的研究来阐明背后的机制同时发生的脱髓化和遗传性视神经病变的条件.

关键词:

DNAJC30 基因基因 DNAJC30 基因勒贝尔的遗传性视神经病变对水-4的抗体.抗体对髓寡基细胞糖蛋白的抗体自体递归光神经病变.脱髓化疾病是一种脱髓化疾病.线粒体疾病是线粒体疾病.多发性硬化症多发性硬化症

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