Neuropathology of Rett syndrome
Neuropathology of Rett syndrome
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DOI：
10.1177/08830738050200082401
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发表时间：
2005-09-01
影响因子：
1.9
通讯作者：
Armstrong, DD
中科院分区：
文献类型：
--
作者：
Armstrong, DD
Rett综合征是一种散发性疾病(少数家族性病例除外)，全世界每10,000至23,000名女孩中就有1人患有此病。它与严重的精神和运动障碍有关。大约90%的病例涉及甲基CpG结合蛋白2基因(MECP2)的突变。该基因在这种神秘疾病的发病机制中的作用正在动物模型中进行广泛的研究。Rett综合征与一种复杂的表型有关，这种表型在其表现、临床生理学、化学和病理学的各个方面都是独一无二的。多年的集中观察明确了经典Rett综合征的临床表现及其变异和相关特征(如神经生理学、放射学、化学、代谢和解剖学)。本文回顾了Rett综合征的神经病理学，它涉及单个神经元，也许是特定的神经元，大小减小，树突分支和棘数。本文还总结了对患有Rett综合征的人和小鼠大脑的研究，这些研究开始揭示该疾病的病因学。
Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of this enigmatic disorder is being extensively investigated in animal models. Rett syndrome is associated with a complex phenotype that is unique in every aspect of its presentation, clinical physiology, chemistry, and pathology. Years of concentrated observations have defined the clinical presentation of classic Rett syndrome and its variants and related features (eg, neurophysiologic, radiologic, chemical, metabolic, and anatomic). This article reviews the neuropathology of Rett syndrome, which involves individual neurons, perhaps selected neurons, of decreased size, dendritic branching, and numbers of spines. This article also summarizes the studies in the human and mouse brain with Rett syndrome that are beginning to reveal the disorder's pathoetiology.