Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.
Pedro Manzke, Pedro Renato P Brandão, Talita Balieiro, Diógenes Diego de Carvalho Bispo, Maria Joana Osório, Gustavo Barcelos Barra
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Abstract
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.
在这里，我们报告一例29岁男性患有典型的Pelizaeus-Merzbacher病（PMD），携带PLP1变异NM_000533.5:c。62 C > T，导致NP_000524.3:p.（Ala21Val）在该蛋白的第一个跨膜结构域发生改变。他表现为发育迟缓、眼球震颤、痉挛性麻痹、视神经萎缩、吞咽困难、阑尾共济失调和进行性头颤。脑部MRI显示髓鞘硬化、弥漫性白质高、胼胝体和小脑萎缩，扩大了已知的PMD临床谱。
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