Lu Chin-Song, Ng Shu-Hang, Lai Szu-Chia, Kao Ling-Yuh, Liu Laura, Lin Wey-Yil, Wu Yi-Ming, Chen Yao-Liang, Wang Jiun-Jie
Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Brain Imaging Behav. 2017 Feb;11(1):214-223. doi: 10.1007/s11682-016-9517-6.
In order to identify the cortical changes in patients with Sialidosis type 1, diffusion tensor imaging and resting state fMRI were acquired from 11 patients and 11 sex/age matched normal controls after clinical evaluations. The neuroimages from each participant were normalized and parcellated according to the Automatic Anatomical Labeling. Both the mean diffusivity and the corresponding functional connectivity were calculated from each cortical region. The white matter tract integrity was examined. The difference between patients and controls was examined using Student's t-test and between patients with either homozygous or heterozygous mutations by Mann-Whitney U test, both at a threshold of 0.05. Increased mean diffusivity throughout the brain can be noticed in the patients, together with a compromised white matter tracts integrity. The most severely affected cortical regions are in the occipital lobe. Decreased functional connectivity was from the temporal and occipital lobes to the hippocampus and parahippocampus. In contrast, connectivity from thalamus was enhanced. Diffused cortical atrophy with posterior focal lesions was noticed. We concluded that MRI observed functional changes in the posterior cortical pathways in the patients with Sialidosis. The observation might be related to the cortical blindness due to an altered neural network and a compromised visual pathway in the patients.
为了识别1型唾液酸沉积症患者的皮质变化，在临床评估后，对11例患者和11名性别/年龄匹配的正常对照者进行了扩散张量成像和静息态功能磁共振成像。根据自动解剖标记对每个参与者的神经影像进行归一化和分割。计算每个皮质区域的平均扩散率和相应的功能连接性。检查白质束的完整性。使用学生t检验检查患者与对照之间的差异，并使用曼-惠特尼U检验检查纯合或杂合突变患者之间的差异，两者的阈值均为0.05。在患者中可以注意到全脑平均扩散率增加，同时白质束完整性受损。受影响最严重的皮质区域位于枕叶。从颞叶和枕叶到海马体和海马旁回的功能连接性降低。相比之下，来自丘脑的连接性增强。观察到弥漫性皮质萎缩伴后部局灶性病变。我们得出结论，MRI观察到唾液酸沉积症患者后部皮质通路的功能变化。该观察结果可能与患者神经网络改变和视觉通路受损导致的皮质盲有关。
