...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Frontiers in Neurology >Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging
【24h】

Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging

机译：遗传广义癫痫的认知功能：神经心理学和神经影像学中的见解

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Genetic generalized epilepsies (GGE), previously called idiopathic generalized epilepsies, constitute about 20% of all epilepsies, and include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone (CAE, JAE, JME, and GGE-GTCS, respectively). GGE are characterized by high heritability, likely underlain by polygenetic mechanisms, which may relate to atypical neurodevelopmental trajectories. Age of onset ranges from pre-school years, for CAE, to early adulthood for GGE-GTCS. Traditionally, GGE have been considered benign, a belief contrary to evidence from neuropsychology studies conducted over the last two decades. In JME, deficits in executive and social functioning are common findings and relate to impaired frontal lobe function. Studies using neuropsychological measures and cognitive imaging paradigms provide evidence for hyperconnectivity between prefrontal and motor cortices, aberrant fronto-thalamo-cortical connectivity, and reduced fronto-cortical and subcortical gray matter volumes, which are associated with altered cognitive performance. Recent research has also identified associations between abnormal hippocampal morphometry and fronto-temporal activation during episodic memory. Longitudinal studies on individuals with newly diagnosed JME have observed cortical dysmaturation, which is paralleled by delayed cognitive development compared to the patients' peers. Comorbidities and cognitive deficits observed in other GGE subtypes, such as visuo-spatial and language deficits in both CAE and JAE, have also been correlated with atypical neurodevelopment. Although it remains unclear whether cognitive impairment profiles differ amongst GGE subtypes, effects may become more pronounced with disease duration, particularly in absence epilepsies. Finally, there is substantial evidence that patients with JME and their unaffected siblings share patterns of cognitive deficits, which is indicative of an underlying genetic etiology (endophenotype), independent of seizures and anti-epileptic medication.
机译：遗传广义癫痫（GGE）以前称为特发性广义癫痫，占所有癫痫的20％，包括儿童缺席癫痫，青少年缺失癫痫，少年肌阵挛性癫痫和癫痫与普通滋补克隆癫痫发作（CAE，JAE，JME和GGE-GTCs分别）。 GGE的特征在于遗传性的高遗传性，可能是由多基因机制下划线，这可能涉及非典型神经发育轨迹。发病年龄从学前岁月，对于CAE，以早期的成年为GGE-GTCS。传统上，GGE被认为是良性的，这一信念与过去二十年进行的神经心理学研究中的证据相反。在JME中，行政和社会功能的赤字是常见的发现，并涉及额叶功能受损。使用神经心理措施和认知成像范式的研究提供了前平面和电机皮质，异常前 - 丘脑 - 皮质连接和减少的前型 - 皮质和灰质灰质物质体系之间的证据，这与改变的认知性能相关。最近的研究还识别出在情节记忆中异常海马形态学和额期活化之间的关联。对具有新诊断的JME的个体的纵向研究观察了皮质困难，与患者的同龄人相比，被延迟认知发展平行。在其他GGE亚型中观察到的合并症和认知缺陷，例如CAE和JAE中的可见空间和语言缺陷，也与非典型神经发作相关联。尽管仍然不清楚认知障碍概况是否在GGE亚型中，疾病持续时间可能变得更加明显，特别是在缺席癫痫中。最后，有很大的证据表明，JME患者及其未受影响的兄弟姐妹共享认知缺陷的模式，这表明潜在的遗传病因（内卵型），独立于癫痫发作和抗癫痫药物。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号