Haas Brian W, Sheau Kristen, Kelley Ryan G, Thompson Paul M, Reiss Allan L
Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Palo Alto, California; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, California; Department of Psychology, University of Georgia, Athens, Georgia.
Hum Brain Mapp. 2014 Mar;35(3):866-74. doi: 10.1002/hbm.22219. Epub 2012 Nov 14.
Williams syndrome (WS) is a condition caused by a contiguous deletion of approximately 26-28 genes from chromosome 7, and is characterized by abnormal social and emotional processing and abnormal structure and function of the amygdala. Prior studies show that the amygdala is relatively enlarged in WS, but very little is known regarding the regional specificity of increased amygdalar volume in this condition. Here we investigated the regional specificity of structural alterations of the amygdala in WS, compared to a typically developing (TD) control group. We acquired high resolution brain MRI data from 79 participants (39 WS, 40 TD) and used a surface-based analytical modeling approach. The WS group exhibited several areas of increased radial expansion of the amygdalar surface and no areas of decreased radial expansion of the amygdalar surface compared to TD controls. The areas found to exhibit particularly increased radial expansion in WS included the bilateral posterior cortical nucleus, lateral nucleus, and the central nucleus. This greater regional and anatomical specificity of altered amygdala structure in WS contributes to a model relating genetic risk in WS to the development of key brain regions for social and emotional functioning.
威廉姆斯综合征（WS）是一种由7号染色体上约26 - 28个基因连续缺失引起的疾病，其特征是社交和情感处理异常以及杏仁核的结构和功能异常。先前的研究表明，WS患者的杏仁核相对增大，但对于这种情况下杏仁核体积增加的区域特异性知之甚少。在这里，我们将WS患者与典型发育（TD）对照组进行比较，研究了WS患者杏仁核结构改变的区域特异性。我们从79名参与者（39名WS患者，40名TD对照组）获取了高分辨率脑部MRI数据，并使用基于表面的分析建模方法。与TD对照组相比，WS组杏仁核表面径向扩张增加的区域有几个，而杏仁核表面径向扩张减少的区域没有。在WS患者中发现径向扩张特别增加的区域包括双侧后皮质核、外侧核和中央核。WS患者杏仁核结构改变的这种更大的区域和解剖学特异性有助于建立一个将WS中的遗传风险与社交和情感功能关键脑区发育联系起来的模型。
