多小脑回畸形的分子遗传学研究进展

Recent advance in molecular genetics of polymicrogyria malformation

多小脑回畸形是脑皮质发育畸形中最常见的一种类型，以在大脑皮质中有多个过度折叠的小脑回为特征．临床表现主要为癫痫、发育迟缓、智力低下和脑性瘫痪，主要依靠核磁共振成像检查做出临床诊断。近年来随着新一代测序技术的应用和人类脑研究计划的启动，对多小脑回畸形的病因和发病机制有了更多的认识。现已发现多个微管蛋白基因家族的基因突变可导致多小脑回畸形。本文总结多小脑回畸形的临床、影像学、病因等特征，特别阐述了最新的基因学研究进展。

Polymicrogyria （PMG） is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex. Clinical manifestations of PMG mainly include epilepsy seizure, growth retardation, mental retardation, and cerebral palsy. Clinical diagnosis mainly depends on the finding of magnetic resonance imaging （MRI）. In recent years, with the application of a new generation of sequencing technology, much progress has been made in terms of understanding of the genetic pathogenesis of PMG, especially the gene mutation of Tubulin gene family. This review summarizes the recent developments in the classification, clinical and imaging features, and etiologies, specifically focusing on how genetic advances are changing our understanding of PMG.