巴西一名男性患者中与佩利措伊斯-梅茨巴赫病相关的髓磷脂蛋白脂蛋白1（PLP1）基因Ala21Val变体的临床特征。
Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.
作者信息
Manzke Pedro, Brandão Pedro Renato P, Balieiro Talita, de Carvalho Bispo Diógenes Diego, Osório Maria Joana, Barra Gustavo Barcelos
机构信息
Department of Neurology, Movement Disorders Clinic, Instituto Hospital de Base (IHB), Brasília, DF, Brazil.
Neuroscience and Behavior Lab, University of Brasília (UnB), Brasília, DF, Brazil.
出版信息
Hum Genome Var. 2025 Jan 6;12(1):1. doi: 10.1038/s41439-024-00306-8.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.3:p.(Ala21Val) alteration in the first transmembrane domain of the protein. He presented with developmental delays, nystagmus, spastic paraparesis, optic atrophy, dysphagia, appendicular ataxia, and progressive head tremor. Brain MRI revealed hypomyelination, diffuse white matter hyperintensity, and atrophy of the corpus callosum and cerebellum, expanding the known clinical spectrum of PMD.
在此，我们报告一例29岁男性患有典型的佩利措伊斯-梅茨巴赫病（PMD），携带PLP1基因变异NM_000533.5:c.62 C > T，导致该蛋白第一个跨膜结构域出现NP_000524.3:p.(Ala21Val)改变。他表现出发育迟缓、眼球震颤、痉挛性截瘫、视神经萎缩、吞咽困难、肢体共济失调和进行性头部震颤。脑部磁共振成像（MRI）显示髓鞘形成不良、弥漫性白质高信号以及胼胝体和小脑萎缩，扩展了已知的PMD临床谱。
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