Jay V, Becker L E, Chan F W, Perry T L
Division of Neuropathology (Department of Pathology), Hospital for Sick Children, Toronto, ON, Canada.
Neurology. 1991 Mar;41(3):416-22. doi: 10.1212/wnl.41.3.416.
We present the first pathologic descriptions of the puppet-like syndrome of Angelman based on autopsy studies of a 21-year-old woman. The noteworthy findings were a small brain with mild cerebral atrophy but normal gyral development. There was marked cerebellar atrophy with loss of Purkinje and granule cells and extensive Bergmann's gliosis. Study of dendrite morphology using Golgi impregnations of the visual cortex revealed a prominent decrease in dendritic arborization of layer 3 and layer 5 pyramidal neurons. Quantitative Golgi analysis also revealed a significant decrease in the numbers of dendritic spines in apical layer 3 dendrites and both apical and basal layer 5 dendrites. Neurochemical studies of frozen brain tissue demonstrated markedly reduced gamma-aminobutyric acid content in the cerebellar cortex, as well as elevated glutamate content in the frontal and occipital cortices. Although there are no definite morphologic correlates of many of the clinical signs, the pronounced dendritic pathology and neurochemical abnormalities in cerebral cortex may provide a physiologic basis for mental retardation.
我们基于对一名21岁女性的尸检研究，首次给出了安格曼木偶样综合征的病理学描述。值得注意的发现是脑体积小，伴有轻度脑萎缩，但脑回发育正常。小脑明显萎缩，浦肯野细胞和颗粒细胞缺失，伯格曼胶质细胞广泛增生。使用高尔基染色法对视觉皮层的树突形态进行研究发现，第3层和第5层锥体细胞的树突分支显著减少。高尔基定量分析还显示，第3层顶端树突以及第5层顶端和基底树突的树突棘数量显著减少。对冷冻脑组织的神经化学研究表明，小脑皮质中的γ-氨基丁酸含量明显降低，额叶和枕叶皮质中的谷氨酸含量升高。尽管许多临床症状没有明确的形态学对应关系，但大脑皮质中明显的树突病理和神经化学异常可能为智力迟钝提供生理基础。
