Chizhikov Victor, Millen Kathleen J
Department of Human Genetics, University of Chicago, 920 E 58th Street, CLSC 319, Chicago, IL 60637, USA.
Mol Genet Metab. 2003 Sep-Oct;80(1-2):54-65. doi: 10.1016/j.ymgme.2003.08.019.
The cerebellum is the primary motor coordination center of the CNS and is also involved in cognitive processing and sensory discrimination. Multiple cerebellar malformations have been described in humans, however, their developmental and genetic etiologies currently remain largely unknown. In contrast, there is extensive literature describing cerebellar malformations in the mouse. During the past decade, analysis of both spontaneous and gene-targeted neurological mutant mice has provided significant insight into the molecular and cellular mechanisms that regulate cerebellar development. Cerebellar development occurs in several distinct but interconnected steps. These include the establishment of the cerebellar territory along anterior-posterior and dorsal-ventral axes of the embryo, initial specification of the cerebellar cell types, their subsequent proliferation, differentiation and migration, and, finally, the interconnection of the cerebellar circuitry. Our understanding of the basis of these developmental processes is certain to provide insight into the nature of human cerebellar malformations.
小脑是中枢神经系统的主要运动协调中心,也参与认知加工和感觉辨别。人类中已描述了多种小脑畸形,然而,其发育和遗传病因目前在很大程度上仍不清楚。相比之下,有大量文献描述了小鼠的小脑畸形。在过去十年中,对自发和基因靶向的神经突变小鼠的分析为调节小脑发育的分子和细胞机制提供了重要见解。小脑发育按几个不同但相互关联的步骤进行。这些步骤包括沿着胚胎的前后轴和背腹轴建立小脑区域,小脑细胞类型的初始特化,它们随后的增殖、分化和迁移,以及最后小脑回路的相互连接。我们对这些发育过程基础的理解肯定会为了解人类小脑畸形的本质提供见解。