{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:28:05Z","timestamp":1777516085372,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["377869, 426534"],"award-info":[{"award-number":["377869, 426534"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.<\/jats:p>","DOI":"10.1177\/2329048x231176673","type":"journal-article","created":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T23:23:11Z","timestamp":1685402591000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Recurrent\n                    <i>De Novo<\/i>\n                    Variant in\n                    <i>EIF2AK2<\/i>\n                    Causes a Hypomyelinating Leukodystrophy"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9444-2365","authenticated-orcid":false,"given":"Julia","family":"Macintosh","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Thiffault","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center, Children\u2019s Mercy Hospital, Kansas City, MO, USA"},{"name":"University of Missouri Kansas City School of Medicine, Kansas City, MO, USA"},{"name":"Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomi","family":"Pastinen","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center, Children\u2019s Mercy Hospital, Kansas City, MO, USA"},{"name":"University of Missouri Kansas City School of Medicine, Kansas City, MO, USA"},{"name":"Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"Sztriha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Szent-Gy\u00f6rgyi Albert Medical Center, University of Szeged, Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e8ve","family":"Bernard","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada"},{"name":"Department Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,5,29]]},"reference":[{"key":"bibr1-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1038\/srep32886"},{"key":"bibr2-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203127"},{"key":"bibr3-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.02.016"},{"key":"bibr4-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000539"},{"key":"bibr5-2329048X231176673","unstructured":"Wolf NI, van Spaendonk RML, Hobson GM, et al. PLP1 Disorders. 1999 Jun 15 [Updated 2019 Dec 19]. In: Adam MP, Mirzaa GM, Pagon RA, et al. eds.\n                      GeneReviews\u00ae [Internet]\n                      . Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1182\/."},{"key":"bibr6-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25973"},{"key":"bibr7-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13371"},{"key":"bibr8-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26081"},{"key":"bibr9-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13384"},{"key":"bibr10-2329048X231176673","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-020-00432-1"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X231176673","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X231176673","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X231176673","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:23Z","timestamp":1777391843000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X231176673"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":10,"alternative-id":["10.1177\/2329048X231176673"],"URL":"https:\/\/doi.org\/10.1177\/2329048x231176673","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"2329048X231176673"}}