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蛋白脂蛋白1(PLP1)相关的遗传性髓鞘形成障碍(佩梅氏病及遗传性痉挛性截瘫2型)蛋白脂蛋白1(proteolipid pro- tein 1,PLP1)相关的遗传性髓鞘形成障碍包括一个疾病谱,其两端分别是佩梅氏病(Pelizaeus-Merzbacher Disease,PMD)和遗传性痉挛性截瘫2型(SPG2)。其显著特征是神经髓鞘不能正常形成,而不是像其他大多数脑白质病那样的脱髓鞘改变。在美国其人群患病率估计为1/30万到1/50万。在德国发病率为0．13/10万活产婴
Hereditary myelination disorders associated with proteolipid 1 (PLP1) (Peyme’s disease and hereditary spastic paraplegia type 2) Proteolipid pro-tein 1 (PLP1) associated with inherited myelinating disorders Includes a spectrum of diseases with Pelizaeus-Merzbacher Disease (PMD) and hereditary spastic paraplegia 2 (SPG2) flanked on each side. The salient feature is that myelin sheaths do not form normally, rather than demyelinating like most other leukoencephalopathies. The prevalence in the United States is estimated at 1/30 million to 1/50 million. The incidence in Germany was 0.13 / 100,000 live births