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在印度队列中SH3TC2关联神经病变患者的表征

Madhu Nagappa¹, Shivani Sharma², Periyasamy Govindaraj³

¹Department of Neurology; Department of Neuromuscular Laboratory, Neurobiology Research Centre (NBRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

Neurology India

|November 6, 2023

概括

SH3TC2基因变异导致脱髓化沙科特-玛丽-图斯 (CMT) 疾病. 本研究详细介绍了SH3TC2相关神经病变的印度患者的特征,并指出与其他人群的差异.

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:

SH3TC2变异与非髓化性衰退性Charcot-Marie-Tooth (CMT) 疾病有关.
这种情况往往表现为早期发病的脊椎病变和神经病变.
关于印度人群中SH3TC2相关的神经病变的数据有限.

研究的目的:

为了在印度队伍中表征SH3TC2相关的神经病变的患者.
在受影响个体中识别和分析SH3TC2基因变异.
将研究结果与现有的国际队列进行比较.

主要方法:

分析了来自五名与SH3TC2变异异的非相关印度受试者的临床和遗传数据.
详细的临床表型,包括神经学检查和电生理学研究.
基因分析用于识别和表征SH3TC2变异.

主要成果:

观察到女性占主导地位 (4/5) 和早期发作的神经病变 (2/5).
常见的临床特征包括骨腔,子脚和动感障碍.
电生理学揭示了不同程度的减缓导电速度的脱髓化模式.
在所有患者中,脑干听觉唤起的潜能都异常,尽管只有一个患者有症状性听力损失.
确定了7种SH3TC2变种,其中大多数是新型. 三名患者有额外的相关遗传变异.

结论:

这项研究提供了关于印度患者SH3TC2变异的宝贵数据,突出了与其他队列相比的独特特征.
脑干听觉唤起潜力的异常是普遍存在的,即使在无症状个体中也是如此.
需要进一步的研究来阐明新型变异的功能影响及其在SH3TC2相关的神经病变中的分子相互作用.

关键词:

大脑干的听觉唤起的潜力.在CMT4C中,你会看到CMT4C.查洛特-玛丽-牙病是一种疾病.在 SH3TC2 变异中.听力障碍听力障碍听力障碍基因修饰剂基因修饰剂基因修饰剂

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