Sarnat Harvey B, Flores-Sarnat Laura
Departments of Clinical Neurosciences and Paediatrics, Division of Paediatric Neurology, University of Calgary, Alberta Children's Hospital, Calgary, Canada.
Handb Clin Neurol. 2013;111:117-28. doi: 10.1016/B978-0-444-52891-9.00012-9.
Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication.
现代神经胚胎学将描述性形态发生与对分子遗传编程的最新见解以及由细胞特异性组织标记物所提供的数据相结合,这些标记物进一步明确了组织发生过程。单个神经元的成熟涉及维持膜兴奋性的能量泵、离子通道和膜受体的发育。大多数神经系统畸形最好在正常发育过程异常的背景下理解,这些异常会导致结构和功能异常。早期畸形通常是神经管三个轴梯度上的基因表达紊乱、节段缺陷或单个细胞的混合谱系。后期紊乱主要涉及细胞迁移、轴突寻路、突触形成和髓鞘形成。神经影像学的进展现在能够通过大脑异常的宏观形态在子宫内、出生时或婴儿早期对活体患者的许多畸形进行诊断。这些图像通过现代神经病理学方法得到补充,这些方法揭示了超出MRI分辨率的微观、免疫细胞化学和亚细胞细节。可以将正常和异常个体发生与早产或足月新生儿的临床神经学和脑电图成熟进行关联,以便更好地理解围产期神经疾病。术语的精确性是科学交流的关键。