Periventricular heterotopia with complete agenesis of the corpus callosum : a case report.
Periventricular heterotopia with complete agenesis of the corpus callosum : a case report.
复制标题
脑室周围异位伴胼胝体完全发育不全：病例报告。
DOI：
10.1007/s00415-006-0182-3
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发表时间：
2006
影响因子：
6
通讯作者：
Sheen,VL
中科院分区：
文献类型：
--
作者：
Neal,J;Raju,GP;Bodell,A;Apse,K;Walsh,CA;Sheen,VL
ASXL 2和KIAA 1803，表明这是一种极其罕见的疾病。在本例PH和ACC患者的情况下，没有编码突变的基因表明，这种疾病的遗传基础可能是异质性的。虽然明确推测，但共同的发育机制可能有助于PH和ACC的发展。在PH中，最近提出细胞粘附-细胞外基质相互作用的一些破坏有助于神经元迁移早期发作的损害[6]。FLNA与整联蛋白的结合[7]以及ARFGEF 2对粘附相关蛋白和脂质的囊泡转运的调节[5]可能是沿着神经室管膜沿着的神经祖细胞内局灶性粘附的完整性或迁移神经元的前导过程延伸和附着到放射状胶质细胞上所必需的。胼胝体发育过程中的胼胝体轴突引导同样需要神经突的延伸以及这些生长锥与细胞外基质（ECM）的相互作用。因此，就像神经元延伸引导过程以启动迁移一样，胼胝体轴突必须延伸过程以到达对侧半球目标;并且来自迁移和胼胝体神经元的过程必须与周围的ECM相互作用。
ASXL2 and KIAA1803, indicating that this is an extremely rare disorder. In the present patient case with PH and ACC reported here, the absence of a coding mutation for either gene suggests that the genetic basis of this disorder is likely heterogeneous in nature. While clearly speculative, a common developmental mechanism may contribute to the development of both PH and ACC. In PH, some disruption in cell adhesion-extracellular matrix interactions has recently been proposed to contribute to the impairment in the early onset of neuronal migration [6]. The binding of FLNA to integrins [7], and the regulation of vesicle transport of adhesion-related proteins and lipids by ARFGEF2 [5] are probably required for the integrity of focal adhesions within neural progenitors along the neuroependyma or the extension and attachment of the leading process of migratory neurons onto radial glia. Callosal axon guidance during development of the corpus callosum similarly requires the extension of neurites and interaction of these growth cones with the extracellular matrix (ECM). Thus, much in the same manner by which neurons extend a leading process to initiate migration, callosal axons must extend processes to reach the contralateral hemispheric target; and processes from both migratory and callosal neurons must interact with the surrounding ECM.