Carmichael Jenny, Woods Christopher
Department of Medical Genetics, Clinical Medical School of the University of Cambridge, Cambridge Institute of Medical Research,Hills Road, Cambridge CB2 2XY, United Kingdom.
Curr Neurol Neurosci Rep. 2006 Sep;6(5):437-46. doi: 10.1007/s11910-996-0026-7.
This review focuses on malformations of the central nervous system that have a genetic etiology. One can view each malformation as giving us unique details on a map entitled "how to make a human brain." The gene(s) that cause each malformation are being identified, allowing discovery of their specific role in neurodevelopment, and defining a "road" on the map. The malformation is then the developmental consequence of "taking a wrong turn." Assimilation of complementary data from other species with human malformation phenotype and genotype is revealing just how wonderful and complex the neurodevelopment map is. Here we highlight recent research on brain malformations and how this is illuminating the map of normal human brain formation.
本综述聚焦于具有遗传病因的中枢神经系统畸形。人们可以将每一种畸形视为在一张名为“如何构建人类大脑”的地图上为我们提供独特的细节。导致每种畸形的基因正在被识别出来，这使得我们能够发现它们在神经发育中的具体作用，并在地图上确定一条“路线”。那么，这种畸形就是“走错路”的发育后果。将来自其他物种的互补数据与人类畸形的表型和基因型相结合，正揭示出神经发育地图是多么奇妙和复杂。在这里，我们重点介绍关于脑畸形的最新研究，以及这如何照亮正常人类大脑形成的地图。
