Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.
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DOI：
10.1371/journal.pone.0133473
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Jiao Y
中科院分区：
文献类型：
--
作者：
Miao W;Man F;Wu S;Lv B;Wang Z;Xian J;Sabel BA;He H;Jiao Y
目的探讨先天性眼外肌纤维化1型（CFEOM 1）患者可能的脑结构和功能改变。从9名KIF 21 A阳性患者和19名年龄和性别匹配的健康对照中获得T1加权、扩散张量图像和功能MRI数据。基于体素的形态测量和束的空间统计分别应用于T1加权和扩散张量图像。低频波动幅度和区域均匀性用于处理功能MRI数据。然后，我们比较了CFEOM 1患者和健康对照之间的这些多模态特征。与健康对照组相比，CFEOM 1患者表现出双侧额叶眶皮质和右颞极灰质体积增加。未检测到扩散指数变化，表明白色物质微观结构未受影响。此外，从静息状态的功能MRI数据，低频波动幅度增加的趋势在右下顶叶和右额叶皮层，和ReHo增加的趋势（p<0.001未校正）在左中央前回，左眶额皮层，颞极和扣带回。CFEOM 1患者的灰质结构和功能发生变化，但白色物质不受影响。脑内这些改变可能是由于眼外肌及其支配神经的异常所致。未来的研究应考虑脑形态/功能研究结果和临床数据之间的可能相关性，特别是与眼球运动有关的数据，以获得有关脑区变化的作用及其在CFEOM 1中的功能后果的更准确的答案。
To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging. T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender- matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls. Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p<0.001 uncorrected) in the left precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus. CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.