White matter aberrations in prepubertal estrogen-naive girls with monosomic Turner syndrome.
White matter aberrations in prepubertal estrogen-naive girls with monosomic Turner syndrome.
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DOI：
10.1093/cercor/bhr355
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发表时间：
2012-12
期刊：
影响因子：
3.7
通讯作者：
B. Yamagata;N. Barnea-Goraly;M. Marzelli;Yaena Park;D. Hong;M. Mimura;A. Reiss
中科院分区：
文献类型：
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作者：
B. Yamagata;N. Barnea-Goraly;M. Marzelli;Yaena Park;D. Hong;M. Mimura;A. Reiss
特纳综合征（TS）提供了一个独特的机会，研究基因，大脑和认知表型之间的关联。在这项研究中，我们使用了3个互补的分析扩散张量成像（DTI）数据（全脑，感兴趣的区域，和纤维束成像）和全脑容积成像技术，以调查白色物质（WM）的结构在青春期前，非马赛克，雌激素初治的女孩与TS相比，年龄和性别匹配的典型发展对照。与对照组相比，TS组在视觉空间能力、面部处理、感觉运动和社会能力方面的脑区表现出显著的WM畸变。在TS中观察到异常WM结构（DTI）区域和异常WM体积区域之间的广泛空间重叠。我们的研究结果表明，完全没有X染色体的年轻女性（接受外源性雌激素之前）与WM畸变在特定区域牵连的特征性认知功能的TS。
Turner syndrome (TS) offers a unique opportunity to investigate associations among genes, the brain, and cognitive phenotypes. In this study, we used 3 complementary analyses of diffusion tensor imaging (DTI) data (whole brain, region of interest, and fiber tractography) and a whole brain volumetric imaging technique to investigate white matter (WM) structure in prepubertal, nonmosaic, estrogen-naive girls with TS compared with age and sex matched typically developing controls. The TS group demonstrated significant WM aberrations in brain regions implicated in visuospatial abilities, face processing, and sensorimotor and social abilities compared with controls. Extensive spatial overlap between regions of aberrant WM structure (from DTI) and regions of aberrant WM volume were observed in TS. Our findings indicate that complete absence of an X chromosome in young females (prior to receiving exogenous estrogen) is associated with WM aberrations in specific regions implicated in characteristic cognitive features of TS.