Shiraishi Kazuhiro, Itoh Masayuki, Sano Kenji, Takashima Sachio, Kubota Takeo
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ann Neurol. 2003 Aug;54(2):259-62. doi: 10.1002/ana.10660.
We report an autopsied case of a 21-gestational-week fetus with duplication of the proteolipid protein (PLP) gene (PLP1). An immunohistochemical study, which can detect the specific expression of PLP, myelin basic protein, myelin-associated glycoprotein, and platelet-derived growth factor receptor alpha subunit in brain tissues, showed that the myelination was almost the same as that of age-matched controls. This result suggests that the development and migration of the oligodendrocyte is normal in Pelizaeus-Merzbacher disease until midgestation. To our knowledge, this is the first report of the myelination of a fetus with duplication of the PLP1 gene.
我们报告了一例妊娠21周胎儿的尸检病例，该胎儿存在蛋白脂蛋白（PLP）基因（PLP1）重复。一项免疫组织化学研究能够检测脑组织中PLP、髓鞘碱性蛋白、髓鞘相关糖蛋白和血小板衍生生长因子受体α亚基的特异性表达，结果显示其髓鞘形成与年龄匹配的对照几乎相同。这一结果表明，在佩利措伊斯-梅茨巴赫病中，少突胶质细胞的发育和迁移直至妊娠中期都是正常的。据我们所知，这是关于PLP1基因重复胎儿髓鞘形成的首例报告。
