Infantile GM1 gangliosidosis complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination
Infantile GM1 gangliosidosis complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination
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DOI：
10.1007/s100240050010
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发表时间：
2000-01-01
影响因子：
1.9
通讯作者：
Kaye, EM
中科院分区：
文献类型：
--
作者：
Folkerth, RD;Alroy, J;Kaye, EM
导致溶酶体贮积的先天性代谢缺陷，如β -半乳糖苷酶缺乏症（GM1神经节苷脂贮积症[GM1]），对细胞功能和形态具有公认的影响。在一些经典的“神经元”贮积病中，包括GM1，对婴儿的神经放射学观察表明，随着时间推移监测到持续的“不成熟”信号强度，提示髓鞘形成延迟。我们试图以半定量的方式评估两名GM1婴儿患者（一男一女，在15个月大时尸检）的髓鞘形成模式和程度。我们将定义部位的髓鞘形成程度按0到4的顺序量表进行赋值，并与已发表的基于尸检婴儿人群的值进行比较。在这两名患者中，较早形成髓鞘的结构在发育上与胎龄预期相当，而较晚形成髓鞘的结构则延迟。这些数据与这些婴儿髓鞘形成延迟的神经放射学诊断高度相关，并表明代谢缺陷除了对神经元贮积相关的影响外，对髓鞘发育也有主要影响。此外，我们通过光学显微镜、电子显微镜以及凝集素组织化学对中枢神经系统和全身组织进行分析，其中一些组织此前未被描述过，这增加了对不同细胞类型中贮积物质的了解。
Inborn metabolic errors causing lysosomal storage, such as beta-galactosidase deficiency (G(M1) gangliosidosis [G(M1)]), have well-recognized effects on cellular function and morphology In some classically "neuronal" storage diseases, including G(M1), neuroradiologic observations of infants have suggested a delay in myelination on the basis of persistently "immature" signal intensities monitored over time. We sought to evaluate in a semiquantitative fashion the pattern and degree of myelination in two infantile GM1 patients, one boy and one girl, autopsied at 15 months of age. We assigned myelination degrees for defined sites on an ordinal scale of 0 to 4, and compared them to published population-based values for autopsied infants. In both patients, earlier-myelinating structures were comparable in development to that expected for postconceptional age, whereas later-myelinating structures were delayed. These data correlate well with the neuroradiologic diagnosis of myelination delay in these infants and suggest that the metabolic defect has a primary influence on myelin development, in addition to effects related to neuronal storage. Furthermore, our analysis by light and electron microscopy and lectin histochemistry of both CNS and systemic tissues, several of which had not been described, add to the understanding of the stored material in different cell types.