Neural tube defects: recent advances, unsolved questions, and controversies.
Neural tube defects: recent advances, unsolved questions, and controversies.
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DOI：
10.1016/s1474-4422(13)70110-8
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发表时间：
2013-08
期刊：
影响因子：
--
通讯作者：
Greene ND
中科院分区：
文献类型：
--
作者：
Copp AJ;Stanier P;Greene ND
神经管缺陷（NTD）是严重的先天性畸形，每1000例妊娠中约有1例。在这里，我们回顾了NTD领域的最新进展和目前尚未解决的问题。临床治疗的一个创新来自于子宫内闭合开放性脊柱裂病变可以减少儿童神经功能障碍的证明。一些国家通过强制性食品强化加强了叶酸的一级预防，但英国尚未这样做。遗传易感性构成了NTD风险的大部分，并且调节叶酸一碳代谢和平面细胞极性的基因已经被强烈地牵连。人类神经管闭合事件的顺序仍然存在争议，但对小鼠NTD模型的研究表明，无脑儿、开放性脊柱裂和颅脊裂是由原发性神经形成失败引起的，而皮肤覆盖的脊髓闭合不全是由继发性神经形成缺陷引起的。其他“NTD”畸形，如脑膨出，很可能是神经形成后疾病。
Neural tube defects (NTDs) are severe congenital malformations affecting around 1 in every 1000 pregnancies. Here we review recent advances and currently unsolved issues in the NTD field. An innovation in clinical management has come from the demonstration that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention by folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in UK. Genetic predisposition comprises the majority of NTD risk, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but study of mouse NTD models shows that anencephaly, open spina bifida and craniorachischisis result from failure of primary neurulation, while skin-covered spinal dysraphism results from defective secondary neurulation. Other ‘NTD’ malformations, such as encephalocele, are likely to be post-neurulation disorders.