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

doi:10.1038/s41439-024-00306-8

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 af dette arbejde

Center for Translational Neuromedicine

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer 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.

Originalsprog	Engelsk
Artikelnummer	1
Tidsskrift	Human Genome Variation
Vol/bind	12
Udgave nummer	1
Antal sider	3
ISSN	2054-345X
DOI	https://doi.org/10.1038/s41439-024-00306-8
Status	Udgivet - 2025

Bibliografisk note

Publisher Copyright:
© The Author(s) 2025.

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10.1038/s41439-024-00306-8Licens: CC BY

FulltextForlagets udgivne version, 1,71 MBLicens: CC BY

Citationsformater

Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient. / Manzke, Pedro; Brandão, Pedro Renato P.; Balieiro, Talita; de Carvalho Bispo, Diógenes Diego; Osório, Maria Joana; Barra, Gustavo Barcelos.

I: Human Genome Variation, Bind 12, Nr. 1, 1, 2025.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Manzke, Pedro ; Brandão, Pedro Renato P. ; Balieiro, Talita ; de Carvalho Bispo, Diógenes Diego ; Osório, Maria Joana ; Barra, Gustavo Barcelos. / Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient. I: Human Genome Variation. 2025 ; Bind 12, Nr. 1.

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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.",

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AU - Manzke, Pedro

AU - Brandão, Pedro Renato P.

AU - Balieiro, Talita

AU - de Carvalho Bispo, Diógenes Diego

AU - Osório, Maria Joana

AU - Barra, Gustavo Barcelos

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AB - 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.

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