Morphological study of neocortical areas in Rett syndrome
Morphological study of neocortical areas in Rett syndrome
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DOI：
10.1007/s004010050582
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发表时间：
1997-01-01
影响因子：
12.7
通讯作者：
Dahlstrom, A
中科院分区：
文献类型：
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作者：
Belichenko, PV;Hagberg, B;Dahlstrom, A
研究了4名16-24岁Rett综合征（RS）女性患者的各种新皮质区，并与难治性部分性癫痫（TRPE）患者（18-25岁）、婴儿自闭症（IA）和对照组（24岁和58岁）的大脑进行了比较。采用Kluver-Barrera（勒克索坚牢蓝和甲酚紫）标准程序研究了10区（额叶）、21区（颞叶）、4区（初级运动皮层）和17区（初级视觉皮层）的细胞结构。脂褐素的自体荧光，突触囊泡蛋白[突触素（p38）]和凝集素染色（紫藤花凝集素）神经元周网（PNs）的免疫荧光进行了研究，在皮质中使用双通道共聚焦激光扫描显微镜。RS女性的大脑表现出各种类型的形态/cytoarchitectonical异常的单锥体神经元在层II-III，和V-VII的不同皮层区域。这些异常包括锥体神经元的轻度损失，在第II层和第III层比在第V层和第VII层更明显，在额叶和颞叶区域比在视觉皮层更明显。与TRPE患者的观察结果相反，在RS中未发现微小发育不全，包括神经元迁移障碍引起的异常，这强烈表明RS不是神经元迁移障碍。脂褐素的分布是正常的，但数量在RS病例低于对照组和TRPE脑。PN在IA病例的皮质中表达较少，但在RS的运动皮质中明显过表达。p38的定量分析显示，与对照组相比，RS中p38免疫反应性所占的面积减少了20-40%。它的结论是RS可以最好地解释出生后突触发育缺陷，但是，基本的缺陷，仍然是完全未知的。
Various neocortical areas from four females aged 16-24 years with Rett syndrome (RS) were investigated and compared with brains of therapy-resistant partial epilepsy (TRPE) patients (18-25 years), infantile autism (IA), and control brains (24 and 58 years). The cytoarchitecture of area 10 (frontal), area 21 (temporal), area 4 (primary motor cortex), and area 17 (primary visual cortex) was studied by the combined Kluver-Barrera (luxol fast blue and cresyl violet) standard procedure. Autofluorescence of lipofuscin, immunofluorescence of synaptic vesicle proteins [synaptophysin (p38)] and lectin-stained (Wisteria floribunda agglutinin) perineuronal nets (PNs) were studied in the cortices using dual-channel confocal laser scanning microscopy. The brains of RS females show various types of morphological/cytoarchitectonical abnormalities of single pyramidal neurons in layers II-III, and V-VII of different cortical areas. The abnormalities include mild losses of pyramidal neurons, more pronounced in layers II and III than in layers V and VII, and more evident in frontal and temporal areas than in the visual cortex. Microdysgenesis, including abnormalities due to neuronal migration disorders, was not found in RS, in contrast to the observations in TRPE patients, strongly indicating that RS is not a neuronal migration disorder. Lipofuscin distribution was normal but amounts were lower in RS cases than in control and TRPE brains. PNs were less expressed in cortices of the IA case, but were clearly overexpressed in the motor cortex of RS. Quantitative analysis of p38 showed a decrease in the area occupied by p38 immunoreactivity by 20-40% in RS compared with controls. It is concluded that RS could best be explained by a postnatal synaptogenic developmental deficiency; the basic defect, however, is still completely unknown.