Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient
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, ny...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2025-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00306-8 |
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| author | Pedro Manzke Pedro Renato P. Brandão Talita Balieiro Diógenes Diego de Carvalho Bispo Maria Joana Osório Gustavo Barcelos Barra |
| author_facet | Pedro Manzke Pedro Renato P. Brandão Talita Balieiro Diógenes Diego de Carvalho Bispo Maria Joana Osório Gustavo Barcelos Barra |
| author_sort | Pedro Manzke |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9c2c8f2bcb2343fb962bab41fdac5b2f |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-9c2c8f2bcb2343fb962bab41fdac5b2f2025-01-12T12:13:22ZengNature Publishing GroupHuman Genome Variation2054-345X2025-01-011211310.1038/s41439-024-00306-8Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patientPedro Manzke0Pedro Renato P. Brandão1Talita Balieiro2Diógenes Diego de Carvalho Bispo3Maria Joana Osório4Gustavo Barcelos Barra5Department of Neurology, Movement Disorders Clinic, Instituto Hospital de Base (IHB)Neuroscience and Behavior Lab, University of Brasília (UnB)Department of Neurology, Movement Disorders Clinic, Instituto Hospital de Base (IHB)Brasilia University Hospital, University of Brasilia (UnB)Center for Translational Neuromedicine, University of Rochester Medical CenterSabin Diagnóstico e SaúdeAbstract 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.https://doi.org/10.1038/s41439-024-00306-8 |
| spellingShingle | Pedro Manzke Pedro Renato P. Brandão Talita Balieiro Diógenes Diego de Carvalho Bispo Maria Joana Osório Gustavo Barcelos Barra Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient Human Genome Variation |
| title | Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient |
| title_full | Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient |
| title_fullStr | Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient |
| title_full_unstemmed | Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient |
| title_short | Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient |
| title_sort | clinical characteristics of the ala21val variant in the myelin proteolipid protein 1 plp1 gene associated with pelizaeus merzbacher disease in a brazilian male patient |
| url | https://doi.org/10.1038/s41439-024-00306-8 |
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