Seitelberger F
Brain Pathol. 1995 Jul;5(3):267-73. doi: 10.1111/j.1750-3639.1995.tb00603.x.
The recent history of Pelizaeus-Merzbacher Disease (PMD) demonstrates paradigmatically the impact of basic biological research on clinical neurology and brain pathology: this rare and peculiar hereditary disease has become one of the best known disorders of its kind, through a cooperative research effort in neuropathology, human genetics, neurochemistry and molecular biology. PMD, a genetic dysmyelination restricted to the CNS, has been identified as a disease that involves the X chromosome-linked gene for myelin proteolipid protein (PLP), a major structural myelin component. Today more than 30 different mutations in this gene have been defined and associated with PMD or the clinically distinct form X-linked spastic paraplegia type-2 (SPG-2). Improved scanning techniques, specifically the non-invasive magnetic resonance imaging (MRI), allow its early diagnosis in the heterogeneous group of CNS myelin deficiencies. These remarkable achievements have, at the same time, caused a problem for disease classification. Myelin disorders have been grouped in the past on the basis of clinical and neuropathological criteria, creating a system that has now to be reconciled with molecular-genetic data.
佩利措伊斯-梅茨巴赫病（PMD）的近期研究历程典型地展示了基础生物学研究对临床神经病学和脑病理学的影响：通过神经病理学、人类遗传学、神经化学和分子生物学领域的合作研究，这种罕见且特殊的遗传性疾病已成为同类疾病中最广为人知的病症之一。PMD是一种仅限于中枢神经系统的遗传性髓鞘形成异常疾病，已被确定为一种涉及X染色体连锁的髓鞘蛋白脂蛋白（PLP）基因的疾病，PLP是髓鞘的一种主要结构成分。如今，该基因中已确定了30多种不同的突变，并与PMD或临床症状明显不同的X连锁痉挛性截瘫2型（SPG-2）相关。改进后的扫描技术，特别是非侵入性磁共振成像（MRI），能够在中枢神经系统髓鞘缺乏的异质性群体中实现早期诊断。与此同时，这些显著成就也给疾病分类带来了问题。过去，髓鞘疾病是根据临床和神经病理学标准进行分类的，建立了一个现在需要与分子遗传学数据相协调的系统。
