MECHANISM OF ARREST OF NEURONAL MIGRATION IN ZELLWEGER MALFORMATION - HYPOTHESIS BASED UPON CYTOARCHITECTONIC ANALYSIS
MECHANISM OF ARREST OF NEURONAL MIGRATION IN ZELLWEGER MALFORMATION - HYPOTHESIS BASED UPON CYTOARCHITECTONIC ANALYSIS
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DOI：
10.1007/bf00689761
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发表时间：
1978-01-01
影响因子：
12.7
通讯作者：
LYON, G
中科院分区：
文献类型：
--
作者：
EVRARD, P;CAVINESS, VS;LYON, G
对一例5周龄死亡的Zellweger畸形临床典型病例（人类婴儿）的大脑进行了一般组织学准备和Bielschowsky浸渍研究。在大脑半球、小脑和下橄榄复合体中观察到典型的齐薇格畸形和齐薇格畸形的细胞结构异常。新皮质畸形与神经元异位有关。神经元迁移的障碍主要影响到通往皮层外层的神经元。迁移障碍似乎只是部分有效，因为一部分神经元在皮层II和III层处于正常的层状位置，而其他神经元位于皮层内和皮层下的异位位置。小脑皮质畸形的特点是大的浦肯野细胞异位，位于完整的浦肯野细胞和颗粒细胞皮层层下。Bielschowsky制剂鉴定了从异位浦肯野细胞的体细胞延伸出的多个初级树突。有层状不连续，独特的这种畸形，在主核的下橄榄核复合体。与韦弗突变小鼠的小脑皮质畸形类似，齐薇格皮质畸形可能是由于循环有毒代谢物导致神经元迁移不完全中断所致。
The brain from a clinically typical case [human infant] of the Zellweger malformation, dying at 5 wk old, was studied in general histologic preparations and Bielschowsky impregnations. Cytoarchitectonic abnormalities typical of previously described cases and unique to the Zellweger malformation were observed in the cerebral hemispheres, the cerebellum and the inferior olivary complex. Neocortical malformation was associated with neuronal heterotopia. The impediment to neuronal migration principally affected neurons destined for the outer cortical layers. The impediment to migration appeared to be only partially effective in that a portion of neurons destined for cortical layers II and III were in their normal laminar positions, whereas others lay in heterotopic intra-cortical and subcortical positions. The cerebellar cortex in this malformation was distinctive for large Purkinje cell heterotopias, subjacent to intact Purkinje and granule cell cortical laminae. Bielschowsky preparations identified multiple primary dendritic processes extending from the somata of heterotopic Purkinje cells. There were laminar discontinuities, unique to this malformation, in the principal nucleus of the inferior olivary complex. By analogy with the cerebellar cortical malformation in the weaver mutant mouse, the Zellweger cortical malformation may result from incomplete disruption of neuronal migration caused by circulating toxic metabolites.