Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, University of Southern California, Los Angeles, California, USA.
Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.
Brain. 2018 Feb 1;141(2):391-408. doi: 10.1093/brain/awx341.
Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls. We ranked brain structures in order of greatest differences between patients and controls, by meta-analysing effect sizes across 16 subcortical and 68 cortical brain regions. We also tested effects of duration of disease, age at onset, and age-by-diagnosis interactions on structural measures. We observed widespread patterns of altered subcortical volume and reduced cortical grey matter thickness. Compared to controls, all epilepsy groups showed lower volume in the right thalamus (Cohen's d = -0.24 to -0.73; P < 1.49 × 10-4), and lower thickness in the precentral gyri bilaterally (d = -0.34 to -0.52; P < 4.31 × 10-6). Both MTLE subgroups showed profound volume reduction in the ipsilateral hippocampus (d = -1.73 to -1.91, P < 1.4 × 10-19), and lower thickness in extrahippocampal cortical regions, including the precentral and paracentral gyri, compared to controls (d = -0.36 to -0.52; P < 1.49 × 10-4). Thickness differences of the ipsilateral temporopolar, parahippocampal, entorhinal, and fusiform gyri, contralateral pars triangularis, and bilateral precuneus, superior frontal and caudal middle frontal gyri were observed in left, but not right, MTLE (d = -0.29 to -0.54; P < 1.49 × 10-4). Contrastingly, thickness differences of the ipsilateral pars opercularis, and contralateral transverse temporal gyrus, were observed in right, but not left, MTLE (d = -0.27 to -0.51; P < 1.49 × 10-4). Lower subcortical volume and cortical thickness associated with a longer duration of epilepsy in the all-epilepsies, all-other-epilepsies, and right MTLE groups (beta, b < -0.0018; P < 1.49 × 10-4). In the largest neuroimaging study of epilepsy to date, we provide information on the common epilepsies that could not be realistically acquired in any other way. Our study provides a robust ranking of brain measures that can be further targeted for study in genetic and neuropathological studies. This worldwide initiative identifies patterns of shared grey matter reduction across epilepsy syndromes, and distinctive abnormalities between epilepsy syndromes, which inform our understanding of epilepsy as a network disorder, and indicate that certain epilepsy syndromes involve more widespread structural compromise than previously assumed.
癫痫患者的功能逐渐衰退在很大程度上仍未得到解释。我们成立了 ENIGMA-Epilepsy 联合会,以了解影响癫痫患者大脑测量的因素,从欧洲、北美和南美、亚洲和澳大利亚的 14 个国家的 24 个研究中心汇集数据。从 2149 名癫痫患者的 MRI 脑部扫描中提取结构脑测量值,将其分为四个癫痫亚组,包括特发性全面性癫痫(n = 367)、伴海马硬化的内侧颞叶癫痫(左,n = 415;右,n = 339)和所有其他癫痫的总和(n = 1026),并与 1727 名匹配的健康对照进行比较。我们通过对 16 个皮质下和 68 个皮质脑区的效应大小进行荟萃分析,按患者和对照之间差异最大的脑结构进行排序。我们还测试了疾病持续时间、发病年龄和年龄与诊断的相互作用对结构测量的影响。我们观察到广泛的皮质下体积改变和皮质灰质厚度减少的模式。与对照组相比,所有癫痫组的右侧丘脑体积均较小(Cohen's d = -0.24 至 -0.73;P < 1.49 × 10-4),双侧中央前回灰质厚度变薄(d = -0.34 至 -0.52;P < 4.31 × 10-6)。两个 MTLE 亚组在同侧海马体均表现出明显的体积减少(d = -1.73 至 -1.91,P < 1.4 × 10-19),并且在海马体以外的皮质区域,包括中央前回和旁中央回,厚度变薄,与对照组相比(d = -0.36 至 -0.52;P < 1.49 × 10-4)。在左侧 MTLE 中观察到同侧颞极、海马旁回、内嗅皮质和梭状回、对侧三角区以及双侧楔前叶、额上回和中额下回皮质厚度的差异(d = -0.29 至 -0.54;P < 1.49 × 10-4),但在右侧 MTLE 中未观察到这些差异。在右侧 MTLE 中观察到同侧岛盖部和对侧横颞回皮质厚度的差异(d = -0.27 至 -0.51;P < 1.49 × 10-4),但在左侧 MTLE 中未观察到这些差异。所有癫痫患者、其他所有癫痫患者和右侧 MTLE 组中,与癫痫持续时间较长相关的皮质下体积和皮质厚度较小(β,b < -0.0018;P < 1.49 × 10-4)。在迄今为止最大的癫痫神经影像学研究中,我们提供了有关常见癫痫的信息,这些信息无法以其他任何方式获得。我们的研究提供了一个强大的脑测量排序,可以进一步针对遗传和神经病理学研究进行研究。这项全球性倡议确定了跨癫痫综合征的灰质减少的共同模式,以及癫痫综合征之间的独特异常,这为我们理解癫痫作为一种网络疾病提供了信息,并表明某些癫痫综合征比以前假设的涉及更广泛的结构损伤。