CAUSATION OF NEURAL TUBE DEFECTS - CLUES FROM EPIDEMIOLOGY
CAUSATION OF NEURAL TUBE DEFECTS - CLUES FROM EPIDEMIOLOGY
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DOI：
10.1093/oxfordjournals.bmb.a071187
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发表时间：
1974-01-01
影响因子：
6.7
通讯作者：
LECK, I
中科院分区：
文献类型：
--
作者：
LECK, I
在神经系统发育的所有错误中，最引人注目的是那些在胚胎中出现的错误，当神经管的闭合和它在中胚层中的浸没被破坏时。世纪前，Record & McKeown（1949）率先对由此产生的缺陷--无脑畸形、脑膨出、脊髓膨出和脑膜膨出--进行了流行病学研究。他们的研究以及随后十年的其他研究（Penrose，1957; McKeown，1960）表明，这些缺陷的发生率随许多因素而变化-时间，地点，性别，种族，家庭，社会阶层，母亲年龄和产次-其中大多数变化涉及无脑畸形和其他神经管缺陷。因此，很明显，这两组缺陷必须有类似的原因，这些原因必须部分是环境的，与其他常见缺陷的情况相反，特别是唇裂，对频率有明确影响的唯一人口统计学变量是具有遗传意义的变量：性别，种族群体，家庭和父母年龄（Leek，1974）。流行病学家和遗传学家最近试图进一步揭示神经管缺陷的原因，导致了大量额外的描述性数据的获取，并根据这些数据制定和测试了几个因果假设。这篇评论首先涉及从描述性研究中出现的变化模式，然后与由此产生的假设。在整个审查中，在最近的研究中，只有两类神经管缺陷被区分-”无脑畸形”包括颅出血裂（两种缺陷合并），和”脊柱裂”包括所有其他情况下的脑膜膨出，脊髓膨出和脑膨出，因为并不总是有足够的信息来分类缺陷更详细。在对颅出血性坐骨神经裂和头部脑膜膨出（包括脑膨出）进行单独检查时，发现它们比单纯无脑畸形和真性囊性脊柱裂少见得多，但在流行病学上与它们非常相似（Leek，1972）。
The most dramatic of all errors of nervous system development are those that arise in the embryo when the closure of the neural tube and its submergence within the mesoderm are disrupted. The epidemiological study of the resulting defects—anencephaly, encephalocele, myelocele and meningocele—was pioneered a quarter of a century ago by Record & McKeown (1949). Their studies, and others during the ensuing decade (reviewed by Penrose, 1957; McKeown, 1960), showed that the frequency of these defects varied with many factors—time, place, sex, ethnic group, family, social class, and maternal age and parity—and that most of these variations involved both anencephaly and the other neural tube defects. It thus became fairly clear that the two groups of defects must have similar causes, and that these causes must be in part environmental—in contrast to the position for other common defects, notably cleft lip, for which the only demographic variables with well-established effects on frequency are the ones with genetic implications: sex, ethnic group, family, and parental age (Leek, 1974). Recent attempts by epidemiologists and geneticists to unravel further the causes of neural tube defects have led to the acquisition of a mass of additional descriptive data, and to the formulation and testing of several causal hypotheses based on these data. This review deals first with the patterns of variation that emerge from the descriptive studies, and then with the resulting hypotheses. Throughout the review, as in most recent studies, only two categories of neural tube defects are distinguished—" anencephaly" including craniorrhachischisis (the two defects combined), and" spinabifida" including all other cases of meningocele, myelocele and encephalocele—since there is not always enough information available to classify defects in more detail. Where craniorrhachischisis and head meningocele (including encephalocele) have been examined separately, they have emerged as considerably less common than anencephaly alone and true spina bifida cystica, but as otherwise very similar to them epidemiologically (Leek, 1972).