Neuronal migration disorders in humans and in mouse models—an overview

• Published in: Epilepsy research Vol. 36; no. 2; pp. 133 - 141
• Main Authors: Copp, Andrew J, Harding, Brian N
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.1999
• Subjects: Animals; Brain - abnormalities; Brain Diseases - complications; Brain Diseases - embryology; Brain Diseases - genetics; Cell Movement - genetics; Cerebral Cortex - embryology; Disease Models, Animal; Epilepsy; Epilepsy - complications; Gene Expression Regulation - genetics; Humans; Lissencephaly; Mice; Mutant genes; Neuroblasts; Neuronal migration disorders; Neurons - physiology; Reelin; Neuronal migration disorders; Mutant genes; Reelin; Lissencephaly; Neuroblasts; Epilepsy
• ISSN: 0920-1211; 1872-6844
• DOI: 10.1016/S0920-1211(99)00047-9

The spectrum of neuronal migration disorders (NMD) in humans encompasses developmental brain defects with a range of clinical and pathological features. A simple classification distinguishes agyria/pachygyria, heterotopia, polymicrogyria and cortical dysplasia as distinct clinico-pathological entities. Many of these conditions are associated with intractable epilepsy. When considering the pathogenesis of NMD, a critical developmental process is the migration of neuroblasts along the processes of radial glia during the formation of the layered structure of the cerebral cortex. In addition, faulty cytodifferentiation and programmed cell death play important roles in the generation of dysplasias and heterotopias respectively. A number of genes have been identified that participate in the regulation of neuronal migration. Mouse models, in which these genes are mutated, provide insight into the developmental pathways that underlie normal and abnormal neuronal migration.