Poser C M
Arch Neurol. 1978 Jul;35(7):401-8. doi: 10.1001/archneur.1978.00500310003001.
Dysmyelination describes an inborn error of metabolism affecting myelinogenesis that causes it to be abnormal, arrested, or delayed. Abiotrophy or myelin as defined by Gowers, due to metabolic failure of the myelin maintenance system, is yet another feature of dysmyelination. In addition to the leukodystrophies, genetically determined conditions such as infantile amaurotic idiocy, hematosidosis, Niemann-Pick's disease and several of the aminoacidopathies are examples of dysmyelinating diseases. In order to reconcile morphological and neurochemical data in these conditions, it is necessary to reexamine a number of pathogenetic hypotheses based on known enzymatic deficiencies, and the interpretation of fragmentary biochemical analyses. The obligatory role of the neuron and axon in myelin formation and maintenance is reviewed. The hypothesis is advanced that gangliosides and their degradative products constitue precursors for the synthesis of the characteristic myelin sphingolipids cerebrosides, sulfatides, and sphingomyelin. Alterations in axoplasmic flow and of ganglioside metabolism must be condidered as important factors in the pathogenesis of dysmyelination.
髓鞘形成异常是指一种影响髓鞘生成的先天性代谢缺陷，导致髓鞘生成异常、停滞或延迟。如高尔斯所定义的，由于髓鞘维持系统的代谢衰竭导致的营养性萎缩或髓鞘异常，是髓鞘形成异常的另一个特征。除了脑白质营养不良外，遗传性疾病如婴儿黑蒙性白痴、血色素沉着症、尼曼-匹克病以及几种氨基酸代谢病都是髓鞘形成异常疾病的例子。为了协调这些情况下的形态学和神经化学数据，有必要重新审视一些基于已知酶缺陷的发病机制假说，以及对零碎生化分析的解释。本文回顾了神经元和轴突在髓鞘形成和维持中的重要作用。提出的假说是，神经节苷脂及其降解产物是合成髓鞘特征性鞘脂脑苷脂、硫脂和鞘磷脂的前体。轴浆流动和神经节苷脂代谢的改变必须被视为髓鞘形成异常发病机制中的重要因素。
