与ATP1A2相关的脑病变和运动障碍:三名新型患者的临床特征
Natalia Martínez Córdoba1, Isabella Lince-Rivera1, Jorge Luis Ramón Gómez2
1Universidad Militar Nueva Granada, Bogotá, Colombia.
概括
致病性ATP1A2基因变异与早期婴儿发育性脑病变 (EIDEE) 与严重的神经功能障碍有关. 孟坦丁在一些患者中显示出中度改善,这表明NMDA受体对抗剂治疗的潜力.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 发病学 (Epileptology) 是一个专业的学科.
背景情况:
- ATP1A2基因变异与一系列神经系统疾病有关,包括家族性半性偏头痛和各种综合征.
- 带有运动障碍的早期婴儿发育性脑病 (EIDEE) 是一种严重的表型,与ATP1A2变体有关.
研究的目的:
- 描述三个与ATP1A2变体相关的EIDEE新病例的发病学.
- 总结了17个先前发表的EIDEE病例与ATP1A2变体的特征.
主要方法:
- 对三名患有病原性ATP1A2变异的新患者的医疗记录的回顾性审查.
- 在PubMed,EMBASE和Cochrane数据库中对EIDEE和ATP1A2变体进行系统的文献搜索.
主要成果:
- 三名女性患者在婴儿期早期出现发作,严重发育迟缓,智力障碍,耐药性,运动障碍和复发性状态.
- 在所有患者中都发现了致病性ATP1A2变体 (c.720_721del,c.3022C>T,c.1096G>T).
- 在一些患者中,孟坦丁治疗对发作频率,运动功能,注意力和警觉性有中度改善.
结论:
- ATP1A2变异与严重的EIDEE表型密切相关,其特征是新突变和焦点运动发作.
- 标准的抗发作药物在很大程度上是无效的,但记忆素显示出潜在的治疗益处.
- 需要进一步的前性研究来充分描述表型并评估NMDA受体对抗剂的疗效.
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