Dendritic anomalies in disorders associated with mental retardation.
Dendritic anomalies in disorders associated with mental retardation.
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DOI：
10.1207/s15326942dn1603_18
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发表时间：
1999-12
期刊：
影响因子：
3.7
通讯作者：
W. E. Kaufmann;Hugo W. Moser
中科院分区：
文献类型：
--
作者：
W. E. Kaufmann;Hugo W. Moser
树突异常是智力低下（MR）的最一致的解剖学相关性。最早的描述包括树突棘发育不全，这首先与未分类的MR相关，但也可以在与MR相关的遗传综合征中发现。涉及分支和/或棘的明确树突异常的遗传性疾病包括Down、Rett和脆性X综合征。细胞结构分析也提示了威廉姆斯和鲁宾斯坦-泰比综合征中的树突病理。树突状异常似乎具有综合征特异性发病机制和演变，这在一定程度上与其认知特征相关。树突病理学在突触回路中的意义和动物模型在MR相关树突异常研究中的作用也进行了讨论。最后，一个模型的基因型神经系统表型通路MR，集中在树突状异常，是假设。
Dendritic abnormalities are the most consistent anatomical correlates of mental retardation (MR). Earliest descriptions included dendritic spine dysgenesis, which was first associated with unclassified MR, but can also be found in genetic syndromes associated with MR. Genetic disorders with well-defined dendritic anomalies involving branches and/or spines include Down, Rett and fragile-X syndromes. Cytoarchitectonic analyses also suggest dendritic pathology in Williams and Rubinstein-Taybi syndromes. Dendritic abnormalities appear to have syndrome-specific pathogenesis and evolution, which correlate to some extent with their cognitive profile. The significance of dendritic pathology in synaptic circuitry and the role of animal models in the study of MR-associated dendritic abnormalities are also discussed. Finally, a model of genotype to neurologic phenotype pathway in MR, centered in dendritic abnormalities, is postulated.