【摘 要】
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佩梅病(Pelizaeus-Merzbacher disease,PMD,OMIM 312080)是一种罕见的X连锁隐性遗传的脑白质弥漫性损害性疾病,国外报道的发病率约为1/30,000,临床表现以眼球振颤、进行
【机 构】
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北京大学第一医院儿科,北京100034山西医科大学第一医院神经科,太原030001首都医科大学附属北京儿童医院北京100045
论文部分内容阅读
佩梅病(Pelizaeus-Merzbacher disease,PMD,OMIM 312080)是一种罕见的X连锁隐性遗传的脑白质弥漫性损害性疾病,国外报道的发病率约为1/30,000,临床表现以眼球振颤、进行性痉挛性截瘫、共济失调及精神运动发育迟缓为特征,头颅MRI具有脑白质髓鞘形成落后的异常信号改变.PMD的致病基因位于Xq22的蛋白脂蛋白(proteolipid protein 1,PLP1,GenBank NM_000533),PLP1是髓鞘蛋白的主要成分,约占整个神经系统的50-70%, PLP1基因的缺陷可使合成神经髓鞘的物质缺乏,导致正常的髓鞘合成障碍.迄今国外已发现与PMD相关的PLP1基因突变大约128种(Human Gene Mutation Databases),主要有三种突变类型:重复突变、点突变与缺失突变,其中重复突变占PMD病人总数的50%~75%,是PMD最常见的突变类型.
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