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

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Original languageEnglish
Article number1
JournalHuman Genome Variation
Volume12
Issue number1
Number of pages3
ISSN2054-345X
DOIs
Publication statusPublished - 2025

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