Focal Cortical Dysplasia
Focal Cortical Dysplasia
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DOI：
10.1055/s-0035-1552617
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发表时间：
2015-06-01
影响因子：
2.7
通讯作者：
Crino, Peter B.
中科院分区：
文献类型：
--
作者：
Crino, Peter B.
局灶性皮质发育不良是大脑皮层发育的常见畸形，与难治性癫痫密切相关。根据细胞结构破坏的严重程度--切向或放射状弥散，或板层结构的丧失--以及存在独特的细胞类型，如巨细胞神经元或气球细胞，它们被分为神经病理亚型(Ia、Ib、IIa、IIb和IIi型)。大多数局灶性皮质发育不良可以在神经成像上发现，许多需要切除癫痫手术来治愈难治性癫痫发作。局灶性皮质发育不良的发病机制尚不清楚，尽管最近的证据表明，局灶性皮质发育不良是由大脑发育过程中发生的从头体细胞突变引起的。一些局灶性皮质发育不良亚型显示与雷帕霉素信号级联的哺乳动物靶点有关；这现已扩展到其他皮质畸形，包括半大脑。
Focal cortical dysplasias are common malformations of cerebral cortical development and are highly associated with medically intractable epilepsy. They have been classified into neuropathological subtypes (type Ia, Ib, IIa, IIb, and III) based on the severity of cytoarchitectural disruption-tangential or radial dispersion, or loss of laminar structure -and the presence of unique cells types such as cytomegalic neurons or balloon cells. Most focal cortical dysplasias can be identified on neuroimaging and many require resective epilepsy surgery to cure refractory seizures. The pathogenesis of focal cortical dysplasias remains to be defined, although there is recent evidence to suggest that focal cortical dysplasias arise from de novo somatic mutations occurring during brain development. Some focal cortical dysplasia subtypes show a link to the mammalian target of rapamycin signaling cascade; this has now extended to other cortical malformations, including hemimegalencephaly.