{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T00:46:36Z","timestamp":1768005996464,"version":"3.49.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the\n                    <jats:italic>PLP1<\/jats:italic>\n                    variant NM_000533.5:c.62\u2009C\u2009&gt;\u2009T, 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.\n                  <\/jats:p>","DOI":"10.1038\/s41439-024-00306-8","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T03:39:33Z","timestamp":1736134773000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"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"],"prefix":"10.1038","volume":"12","author":[{"given":"Pedro","family":"Manzke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1191-2078","authenticated-orcid":false,"given":"Pedro Renato P.","family":"Brand\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talita","family":"Balieiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di\u00f3genes Diego","family":"de Carvalho Bispo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Joana","family":"Os\u00f3rio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo Barcelos","family":"Barra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,6]]},"reference":[{"key":"306_CR1","doi-asserted-by":"crossref","unstructured":"Inoue, K. Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes. in Myelin (eds. Sango, K., Yamauchi, J., Ogata, T. & Susuki, K.) vol. 1190 201\u2013216 (Springer Singapore, Singapore, 2019).","DOI":"10.1007\/978-981-32-9636-7_13"},{"key":"306_CR2","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1038\/sj.ejhg.5200537","volume":"8","author":"F Cailloux","year":"2000","unstructured":"Cailloux, F. et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur. J. Hum. Genet 8, 837\u2013845 (2000).","journal-title":"Eur. J. Hum. Genet"},{"key":"306_CR3","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02267-z","volume":"17","author":"R Duan","year":"2022","unstructured":"Duan, R. et al. Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease. Orphanet J. Rare Dis. 17, 137 (2022).","journal-title":"Orphanet J. Rare Dis."},{"key":"306_CR4","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1111\/ped.12450","volume":"56","author":"T Torii","year":"2014","unstructured":"Torii, T., Miyamoto, Y., Yamauchi, J. & Tanoue, A. P elizaeus\u2013 M erzbacher disease: Cellular pathogenesis and pharmacologic therapy. Pediatrics Int. 56, 659\u2013666 (2014).","journal-title":"Pediatrics Int."},{"key":"306_CR5","unstructured":"Hedera, P. Hereditary Spastic Paraplegia Overview. in GeneReviews\u00ae (eds. Adam, M. P. et al.) (University of Washington, Seattle, Seattle (WA), 1993)."},{"key":"306_CR6","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1055\/s-0032-1306388","volume":"32","author":"GM Hobson","year":"2012","unstructured":"Hobson, G. M. & Garbern, J. Y. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Semin Neurol. 32, 62\u201367 (2012).","journal-title":"Semin Neurol."},{"key":"306_CR7","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.1212\/WNL.46.4.1112","volume":"46","author":"F Cambi","year":"1996","unstructured":"Cambi, F. et al. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 46, 1112\u20131117 (1996).","journal-title":"Neurology"},{"key":"306_CR8","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1016\/j.braindev.2014.11.007","volume":"37","author":"H Xie","year":"2015","unstructured":"Xie, H. et al. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus\u2013Merzbacher disease. Brain Dev. 37, 797\u2013802 (2015).","journal-title":"Brain Dev."},{"key":"306_CR9","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405\u2013424 (2015).","journal-title":"Genet. Med."},{"key":"306_CR10","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1016\/j.ajhg.2016.04.003","volume":"98","author":"GP Jarvik","year":"2016","unstructured":"Jarvik, G. P. & Browning, B. L. Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants. Am. J. Hum. Genet. 98, 1077\u20131081 (2016).","journal-title":"Am. J. Hum. Genet."},{"key":"306_CR11","doi-asserted-by":"crossref","unstructured":"Os\u00f3rio, M. J. & Goldman, S. A. Neurogenetics of Pelizaeus\u2013Merzbacher disease. in Handbook of Clinical Neurology vol. 148 701\u2013722 (Elsevier, 2018).","DOI":"10.1016\/B978-0-444-64076-5.00045-4"},{"key":"306_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10048-004-0207-y","volume":"6","author":"K Inoue","year":"2005","unstructured":"Inoue, K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6, 1\u201316 (2005).","journal-title":"Neurogenetics"}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00306-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00306-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00306-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:01:57Z","timestamp":1767981717000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00306-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,6]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["306"],"URL":"https:\/\/doi.org\/10.1038\/s41439-024-00306-8","relation":{},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,6]]},"assertion":[{"value":"18 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 January 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"1"}}