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Pelizaeus-Merzbacher病(PMD)是一利罕见的神经变性疾病,是由中枢神经系统(CNS)髓鞘形成缺陷所致。根据临床所见,可将PMD分为几种类型:最常见的典型PMD是一种X连锁隐性疾病,临床表现为肌张力减退、眼球震颤、发育不良,以及严重的精神运动性阻滞,最终导致死亡;其他类型包括常染色体隐性遗传、成人常染色体显性遗传、转换型以及“Cockayne综合征”。最近证实PMD的主要病变是由于缺乏蛋白脂质蛋白(PLP)而引起CNS的髓磷脂缺陷。目前已知人PLP基因定位于Xq 21.2-q22,而PLP基因大约为17kb,由7个外显子和6个内含子组成。PLP
Pelizaeus-Merzbacher disease (PMD) is a rare and rare neurodegenerative disorder caused by defects in myelination of the central nervous system (CNS). According to clinical findings, PMD can be divided into several types: the most common typical PMD is a X-linked recessive disease, clinical manifestations of hypotonia, nystagmus, hypoplasia, and severe psychomotor retardation, Eventually leading to death; other types include autosomal recessive inheritance, adult autosomal dominant inheritance, translocation, and “Cockayne syndrome.” Recently, the major lesion of PMD has been demonstrated to be myelin deficiency of the CNS due to lack of proteolipid protein (PLP). It is known that the human PLP gene is located at Xq 21.2-q22, whereas the PLP gene is about 17 kb and consists of 7 exons and 6 introns. PLP