Abnormal cortical complexity and thickness profiles mapped in Williams syndrome
Abnormal cortical complexity and thickness profiles mapped in Williams syndrome
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DOI：
10.1523/jneurosci.0165-05.2005
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发表时间：
2005-04-20
影响因子：
5.3
通讯作者：
Reiss, AL
中科院分区：
文献类型：
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作者：
Thompson, PM;Lee, AD;Reiss, AL
我们确定并绘制了一个解剖学定位失败的皮质成熟威廉姆斯综合征（WS），一个遗传条件与删除类似的20个连续的基因在7号染色体上。基于164个大脑半球的磁共振成像（MRI）扫描，详细的皮质厚度三维（3D）图确定了WS中右半球外侧裂周皮质的一个划界区，该区域比匹配的对照组厚，尽管普遍存在灰质和白色物质缺陷以及大脑总体积减少。从82个T1加权脑MRI扫描中提取3D皮质表面模型（256 x 192 x 124体积）的42例遗传学证实的WS受试者（平均值+/- SD，29.2 +/- 9.0岁; 19名男性，23名女性）和40名年龄匹配的健康对照（27.5 +/- 7.4岁; 16名男性，24名女性）。一个皮质模式匹配技术使用72脑沟的地标跟踪每个大脑作为锚点，以调整皮质厚度地图跨学科，建立组平均地图，并确定与改变皮质厚度WS的区域。皮质模型在频率空间重新网格计算其分形维数（表面复杂性）为每个半球和叶。WS的表面复杂性显著增加（左半球和右半球分别为p < 0.0015和p < 0.0014），并与根据Steinmetz标准分类的颞顶脑回化差异相关。在WS中，在限定的右半球外侧裂周和下颞区皮质厚度增加5 - 10%（p < 0.002）。空间扩展的皮质区域被识别为复杂性和厚度增加;对照组中皮质厚度和复杂性也呈正相关（p < 0.03）。这些发现可视化了WS中解剖结构改变的皮质区，值得使用评估功能和连接的技术进行额外研究。
We identified and mapped an anatomically localized failure of cortical maturation in Williams syndrome (WS), a genetic condition associated with deletion of similar to 20 contiguous genes on chromosome 7. Detailed three-dimensional (3D) maps of cortical thickness, based on magnetic resonance imaging (MRI) scans of 164 brain hemispheres, identified a delimited zone of right hemisphere perisylvian cortex that was thicker in WS than in matched controls, despite pervasive gray and white matter deficits and reduced total cerebral volumes. 3D cortical surface models were extracted from 82 T1-weighted brain MRI scans ( 256 x 192 x 124 volumes) of 42 subjects with genetically confirmed WS ( mean +/- SD, 29.2 +/- 9.0 years of age; 19 males, 23 females) and 40 age-matched healthy controls ( 27.5 +/- 7.4 years of age; 16 males, 24 females). A cortical pattern-matching technique used 72 sulcal landmarks traced on each brain as anchors to align cortical thickness maps across subjects, build group average maps, and identify regions with altered cortical thickness in WS. Cortical models were remeshed in frequency space to compute their fractal dimension ( surface complexity) for each hemisphere and lobe. Surface complexity was significantly increased in WS( p < 0.0015 and p < 0.0014 for left and right hemispheres, respectively) and correlated with temporoparietal gyrification differences, classified via Steinmetz criteria. In WS, cortical thickness was increased by 5 - 10% in a circumscribed right hemisphere perisylvian and inferior temporal zone ( p < 0.002). Spatially extended cortical regions were identified with increased complexity and thickness; cortical thickness and complexity were also positively correlated in controls ( p < 0.03). These findings visualize cortical zones with altered anatomy in WS, which merit additional study with techniques to assess function and connectivity.