Smurfit Institute of Genetics and Institute of Neuroscience, Trinity College Dublin, Dublin 2, Ireland.
Curr Opin Neurobiol. 2011 Feb;21(1):197-203. doi: 10.1016/j.conb.2010.08.009. Epub 2010 Sep 9.
The term neurodevelopmental disorder encompasses a wide range of diseases, including recognizably distinct syndromes known to be caused by very rare mutations in specific genes or chromosomal loci, and also much more common disorders such as schizophrenia, autism spectrum disorders, and idiopathic epilepsy and mental retardation. After decades of frustration, the past couple of years have suddenly seen tremendous progress in unravelling the genetics of these common disorders. These findings have led to a paradigm shift in our conception of the genetic architecture of common neurodevelopmental disease, highlighting the importance of individual, rare mutations and overlapping genetic aetiology of various disorders. They have also converged on specific neurodevelopmental pathways, providing insights into pathogenic mechanisms.
神经发育障碍包括广泛的疾病，包括明显不同的综合征，这些综合征已知是由特定基因或染色体位置的非常罕见突变引起的，也包括更常见的疾病，如精神分裂症、自闭症谱系障碍、特发性癫痫和智力迟钝。经过几十年的挫折，过去几年在揭示这些常见疾病的遗传学方面突然取得了巨大进展。这些发现导致了我们对常见神经发育性疾病遗传结构概念的转变，突出了个体罕见突变和各种疾病重叠遗传病因的重要性。它们也集中在特定的神经发育途径上，为发病机制提供了深入的了解。
