Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex.
Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex.
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DOI：
10.1016/j.acra.2011.08.016
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发表时间：
2012-01
影响因子：
4.8
通讯作者：
Warfield, Simon K.
中科院分区：
文献类型：
--
作者：
Peters, Jurriaan M.;Sahin, Mustafa;Vogel-Farley, Vanessa K.;Jeste, Shafali S.;Nelson, Charles A., III;Gregas, Matthew C.;Prabhu, Sanjay P.;Scherrer, Benoit;Warfield, Simon K.
关键词：
多发性硬化症（TSC）是一种遗传性神经皮肤综合征，患者的认知和社会行为结果以不可预测的方式广泛变化。神经系统不良结局的原因尚不清楚。我们研究了白色物质紊乱和神经连接异常与不良神经学结局相关的假设。对40例TSC受试者（年龄范围0.5 - 25岁，平均年龄7.2岁，中位年龄5岁）进行了结构和弥散磁共振成像，其中12例患有自闭症谱系障碍（ASD），29例年龄匹配的对照组。胼胝体纤维束造影用于确定感兴趣的三维体积。计算每个受试者的胼胝体投影的四个扩散标量参数的区域平均值。这些是平均各向异性分数（AFA）和平均平均值，径向和轴向扩散率（AMD，ARD，AAD）。与对照组相比，TSC受试者的AFA显著降低，AMD、ARD和AAD值显著升高。TSC和ASD受试者的AFA值显著低于非ASD受试者和对照组。与对照组相比，无ASD的TSC受试者具有相似的AFA值。扩散张量标量参数提供的三维胼胝体投影的性能的措施。在TSC中，这些参数的变化可能反映了髓鞘形成、轴突完整性或细胞外环境的微结构变化。白色物质微结构特性的改变与TSC相关，较大的变化与TSC和ASD相关，从而建立了改变的白色物质微结构完整性和脑功能之间的关系。
Tuberous Sclerosis Complex (TSC) is a genetic neurocutaneous syndrome in which cognitive and social-behavioral outcomes for patients vary widely in an unpredictable manner. The cause of adverse neurological outcome remains unclear. We investigated the hypothesis that disordered white matter and abnormal neural connectivity are associated with adverse neurological outcome. Structural and diffusion magnetic resonance imaging was carried out in 40 subjects with TSC (age range 0.5 – 25 years, mean age 7.2 and median age 5 years), 12 of whom had autism spectrum disorders (ASD), and in 29 age-matched controls. Tractography of the corpus callosum was used to define a 3-dimensional volume of interest. Regional averages of four diffusion scalar parameters of the callosal projections were calculated for each subject. These were the average fractional anisotropy (AFA) and average mean, radial and axial diffusivity (AMD, ARD, AAD). Subjects with TSC had significantly lower AFA and higher AMD, ARD and AAD values compared to controls. Subjects with TSC and ASD had significantly lower AFA values compared to those without ASD, and compared to controls. TSC subjects without ASD had similar AFA values compared to controls. Diffusion tensor scalar parameters provided measures of properties of the three-dimensional callosal projections. In TSC, changes in these parameters may reflect microstructural changes in myelination, axonal integrity, or extracellular environment. Alterations in white matter microstructural properties were associated with TSC and larger changes were associated with TSC and ASD, thus establishing a relationship between altered white matter microstructural integrity and brain function.
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影响因子：
10.6
作者：
Grau, V;Mewes, AUJ;Warfield, SK
通讯作者：
Warfield, SK
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Simonetti, G
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Lainhart, Janet E.
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LEBIHAN, D
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作者：
Clifford, Sally;Dissanayake, Cheryl;Loesch, Danuta Z.
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Loesch, Danuta Z.