Neuropathology of Rett syndrome

被引:175
作者
Armstrong, DD [1 ]
机构
[1] Baylor Coll Med, Dept Pathol, Blue Bird Circle Rett Ctr, Houston, TX 77030 USA
关键词
D O I
10.1177/08830738050200082401
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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收藏
页码:747 / 753
页数:7
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