儿童和年轻成年人的外围多性神经病变,患有亚亚xia-telangiectasia
Marius Theis1, Helena Donath2, Sandra Woelke2
1Department for Children and Adolescents, Division of Pediatric Neurology, Neurometabolics, and Prevention, Goethe University Frankfurt, University Hospital, Frankfurt, Germany.
European journal of neurology
|August 4, 2023
概括
周围神经病变在阿塔克西亚 - 脑膜异位症 (A-T) 开始于婴儿期,往往是亚临床. 这项研究揭示了AT患者上肢和下肢神经病变的明显发展,突出了早期评估的必要性.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 过敏性脑膜炎 (A-T) 是一种罕见的遗传性疾病,导致神经退行.
- 周围神经系统参与A-T的诊断不足,但对治疗至关重要.
研究的目的:
- 用神经生理学测量来评估外围神经退行症在A-T患者中.
- 调查阿塔克西亚-泰朗基阿克塔西亚中神经病变的年龄依赖性发展.
主要方法:
- 对42名经典的AT患者进行前性研究.
- 评估中介神经和小腿神经的运动和感觉神经传导.
- 将A-T患者的数据与健康对照和已发表的标准进行比较.
主要成果:
- 从生命的第一年开始,在A-T患者中检测到的神经病变.
- 上肢神经病变:主要是脱髓化 (运动) 和混合 (感官).
- 下肢神经病变:主要是混合的 (运动和感觉).
- 在运动和感官多神经病变方面发现了显著的年龄相关性 (p < 0.001).
结论:
- 在A-T中的多神经病变通常是亚临床的,并且存在于生命的早期.
- 在A-T患者中,神经病变的发展在上肢和下肢之间有所不同.
- 强调早期神经生理学评估对AT管理的重要性.
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