ANALYSIS OF NEOCORTEX IN 3 MALES WITH THE FRAGILE-X SYNDROME
ANALYSIS OF NEOCORTEX IN 3 MALES WITH THE FRAGILE-X SYNDROME
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DOI：
10.1002/ajmg.1320410306
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发表时间：
1991-12-01
期刊：
影响因子：
--
通讯作者：
RUDELLI, RD
中科院分区：
文献类型：
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作者：
HINTON, VJ;BROWN, WT;RUDELLI, RD
脆性X综合征是一种常见的遗传性疾病，与Xq27.3处的脆性位点标记相关，临床表现为精神发育迟滞（MR）。3只fraX阳性轻度至中度MR雄性动物的尸检研究未记录任何大体神经病理学变化。新皮质树突棘形态的高尔基分析扩展了我们先前在一例fraX成人病例中对不成熟、长、曲折棘的观察（Rudelli等人，Acta Neuropathologica 67：289-295，1985）至2例新病例。类似的树突棘异常的证据被发现，虽然高尔基体分析是不完全的树突状染色浸渍，因为低于最佳。还对所有3例病例的新皮质层内细胞密度进行了研究。在扣带回和颞叶联合区（Brodmann区23和38）的新皮层II-VI层中随机选择10个区域，对甲酚紫染色的神经元进行计数。在fraX和控制新皮层的神经元计数没有显着差异。因此，异常树突棘形态与神经元密度的保存出现的特点与这种常见形式的精神发育迟滞的个人的新皮层。
Fragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al., Acta Neuropathologica 67:289-295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra-layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II-VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retardation.