Wilder Linnea, Hanson Kari L, Lew Caroline H, Bellugi Ursula, Semendeferi Katerina
Department of Anthropology, Social Sciences Building Rm. 210, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0532, USA.
Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, 10010 N. Torrey Pines Rd., La Jolla, CA 92037, USA.
Brain Sci. 2018 Nov 29;8(12):209. doi: 10.3390/brainsci8120209.
Williams Syndrome (WS) is a neurodevelopmental disorder caused by a deletion of 25⁻28 genes on chromosome 7 and characterized by a specific behavioral phenotype, which includes hypersociability and anxiety. Here, we examined the density of neurons and glia in fourteen human brains in Brodmann area 25 (BA 25), in the ventromedial prefrontal cortex (vmPFC), using a postmortem sample of five adult and two infant WS brains and seven age-, sex- and hemisphere-matched typically developing control (TD) brains. We found decreased neuron density, which reached statistical significance in the supragranular layers, and increased glia density and glia to neuron ratio, which reached statistical significance in both supra- and infragranular layers. Combined with our previous findings in the amygdala, caudate nucleus and frontal pole (BA 10), these results in the vmPFC suggest that abnormalities in frontostriatal and frontoamygdala circuitry may contribute to the anxiety and atypical social behavior observed in WS.
威廉姆斯综合征（WS）是一种神经发育障碍，由7号染色体上25-28个基因的缺失引起，其特征为特定的行为表型，包括过度社交和焦虑。在此，我们使用5个成人和2个婴儿WS大脑以及7个年龄、性别和半球匹配的典型发育对照（TD）大脑的尸检样本，检查了腹内侧前额叶皮层（vmPFC）中布罗德曼25区（BA 25）的14个人类大脑中的神经元和胶质细胞密度。我们发现神经元密度降低，在上颗粒层达到统计学显著水平，胶质细胞密度和胶质细胞与神经元的比例增加，在上颗粒层和下颗粒层均达到统计学显著水平。结合我们之前在杏仁核、尾状核和额极（BA 10）的研究结果，vmPFC的这些结果表明，额纹状体和额杏仁核回路的异常可能导致WS中观察到的焦虑和非典型社交行为。
