Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.
Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.
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DOI：
10.1371/journal.pone.0061880
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Cavalleri GL
中科院分区：
文献类型：
--
作者：
Alhusaini S;Scanlon C;Ronan L;Maguire S;Meaney JF;Fagan AJ;Boyle G;Borgulya G;Iyer PM;Brennan P;Costello D;Chaila E;Fitzsimons M;Doherty CP;Delanty N;Cavalleri GL
我们的目的是 1) 确定皮质下体积缺陷是否常见于内侧颞叶癫痫 (MTLE) 患者及其未受影响的兄弟姐妹 2) 评估皮质下体积特征作为 MTLE 内表型的适用性。使用自动大脑重建方法 (FreeSurfer) 对 101 名不相关的“散发性”MTLE 患者[70 名海马硬化 (MTLE+HS)，31 名 MRI 阴性 TLE]、83 名未受影响的患者全兄弟姐妹和 86 名健康对照受试者进行了基于 MRI 的海马体、杏仁核、丘脑、尾状核、壳核和苍白球体积测量。通过与健康对照者比较，确定患者及其未受影响的兄弟姐妹皮质下结构体积的变化。狭义遗传力是对癫痫发作活动侧的同侧和对侧进行估计。 MTLE+HS 患者的同侧海马体、杏仁核和丘脑均表现出明显的体积缺陷。此外，在双侧壳核中检测到体积损失。 MTLE+HS 患者未受影响的兄弟姐妹中不存在这些体积缺陷。同侧，海马体、丘脑和壳核体积的遗传力估计值显着降低，但杏仁核的遗传力估计值仍保持在预期范围内。 MRI 阴性 TLE 患者及其未受影响的兄弟姐妹在相同结构中没有表现出明显的体积变化，并且遗传力估计值与健康人群的计算结果相当。研究结果表明，“散发性”MTLE+HS 中许多皮质下结构的体积缺陷不是遗传性的，可能与后天因素有关。因此，它们不代表 MTLE+HS 的合适内表型。研究结果还支持以下观点：在神经解剖学水平上，MTLE+HS 和 MRI 阴性 TLE 代表了 MTLE 的两种不同形式。
We aimed to 1) determine if subcortical volume deficits are common to mesial temporal lobe epilepsy (MTLE) patients and their unaffected siblings 2) assess the suitability of subcortical volumetric traits as endophenotypes for MTLE. MRI-based volume measurements of the hippocampus, amygdala, thalamus, caudate, putamen and pallidium were generated using an automated brain reconstruction method (FreeSurfer) for 101 unrelated ‘sporadic’ MTLE patients [70 with hippocampal sclerosis (MTLE+HS), 31 with MRI-negative TLE], 83 unaffected full siblings of patients and 86 healthy control subjects. Changes in the volume of subcortical structures in patients and their unaffected siblings were determined by comparison with healthy controls. Narrow sense heritability was estimated ipsilateral and contralateral to the side of seizure activity. MTLE+HS patients displayed significant volume deficits across the hippocampus, amygdala and thalamus ipsilaterally. In addition, volume loss was detected in the putamen bilaterally. These volume deficits were not present in the unaffected siblings of MTLE+HS patients. Ipsilaterally, the heritability estimates were dramatically reduced for the volume of the hippocampus, thalamus and putamen but remained in the expected range for the amygdala. MRI-negative TLE patients and their unaffected siblings showed no significant volume changes across the same structures and heritability estimates were comparable with calculations from a healthy population. The findings indicate that volume deficits for many subcortical structures in ‘sporadic’ MTLE+HS are not heritable and likely related to acquired factors. Therefore, they do not represent suitable endophenotypes for MTLE+HS. The findings also support the view that, at a neuroanatomical level, MTLE+HS and MRI-negative TLE represent two distinct forms of MTLE.
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