Department of Neurology, Brodno Voivodship Hospital, Medical University of Warsaw.
Neurol Neurochir Pol. 2010 Sep-Oct;44(5):511-5. doi: 10.1016/s0028-3843(14)60142-0.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelination disorder of the central nervous system (CNS). PMD is caused by mutations in the PLP1 gene located at Xq22 and encoding the major myelin component in CNS, proteolipid protein 1 (PLP1). The disease is clinically heterogeneous. Phenotypes are generally categorized into classic and connatal forms. Connatal PMD has more rapid progression with early death, while patients with classic PMD generally survive to adulthood. Both forms of the disease are caused by point mutations as well as rearrangements - multiplication (mainly duplication) and deletion of the PLP1 gene. We present a case of a male patient affected by the classic form of PMD with benign course, except severe dysarthria with the characteristic laryngeal stridor, which is more typical for connatal form of the disease. The diagnosis has been confirmed at the molecular level. The patient has duplication of all 7 exons of the PLP1 gene. This duplication was inherited from the patient's mother, who is an unaffected carrier of the mutation. The patient's family pedigree analysis revealed the interfamilial variability of the phenotype among affected male relatives.
佩利兹-梅茨巴赫病（PMD）是一种罕见的 X 连锁中枢神经系统脱髓鞘疾病。PMD 是由位于 Xq22 并编码中枢神经系统主要髓鞘成分蛋白脂质蛋白 1（PLP1）的 PLP1 基因突变引起的。该疾病具有临床异质性。表型通常分为经典型和先天性。先天性 PMD 进展更快，早期死亡，而经典 PMD 患者一般可存活至成年。两种形式的疾病均由点突变以及基因重排——PLP1 基因的倍增（主要是重复）和缺失引起。我们报告了一例经典型 PMD 男性患者，其病程良好，除了具有特征性喉喘鸣的严重构音障碍外，该病的先天性形式更为典型。该诊断已在分子水平上得到确认。患者的 PLP1 基因的所有 7 个外显子均发生了重复。该重复是从患者的母亲遗传而来，其为突变的无症状携带者。对患者家族系谱的分析揭示了受累男性亲属之间表型的家族间变异性。
