{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T20:58:56Z","timestamp":1771880336177,"version":"3.50.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP24ek0109760"],"award-info":[{"award-number":["JP24ek0109760"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["23FC1052 and 24FC1008"],"award-info":[{"award-number":["23FC1052 and 24FC1008"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-026-00888-1","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T07:33:13Z","timestamp":1771831993000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion"],"prefix":"10.1007","volume":"27","author":[{"given":"Yasuhiro","family":"Kawai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azusa","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koki","family":"Nagai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naruto","family":"Takuya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Aida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohide","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Kuroda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,2,23]]},"reference":[{"key":"888_CR1","doi-asserted-by":"publisher","first-page":"6112","DOI":"10.1038\/sj.onc.1203127","volume":"18","author":"BR Williams","year":"1999","unstructured":"Williams BR (1999) PKR; a Sentinel kinase for cellular stress. Oncogene 18:6112\u20136120. https:\/\/doi.org\/10.1038\/sj.onc.1203127","journal-title":"Oncogene"},{"key":"888_CR2","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1042\/BST20060007","volume":"34","author":"RC Wek","year":"2006","unstructured":"Wek RC, Jiang H-Y, Anthony TG (2006) Coping with stress: eIF2 kinases and translational control. Biochem Soc Trans 34:7\u201311. https:\/\/doi.org\/10.1042\/BST20060007","journal-title":"Biochem Soc Trans"},{"key":"888_CR3","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1097\/NEN.0b013e3181f2eafa","volume":"69","author":"M Bugiani","year":"2010","unstructured":"Bugiani M, Boor I, Powers JM et al (2010) Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol 69:987\u2013996. https:\/\/doi.org\/10.1097\/NEN.0b013e3181f2eafa","journal-title":"J Neuropathol Exp Neurol"},{"key":"888_CR4","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1016\/j.ajhg.2020.02.016","volume":"106","author":"D Mao","year":"2020","unstructured":"Mao D, Reuter CM, Ruzhnikov MRZ et al (2020) De Novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation. Am J Hum Genet 106:570\u2013583. https:\/\/doi.org\/10.1016\/j.ajhg.2020.02.016","journal-title":"Am J Hum Genet"},{"key":"888_CR5","doi-asserted-by":"publisher","first-page":"e539","DOI":"10.1212\/NXG.0000000000000539","volume":"7","author":"DG Calame","year":"2021","unstructured":"Calame DG, Hainlen M, Takacs D et al (2021) EIF2AK2-related neurodevelopmental disorder with leukoencephalopathy, developmental delay, and episodic neurologic regression mimics Pelizaeus-Merzbacher disease. Neurol Genet 7:e539. https:\/\/doi.org\/10.1212\/NXG.0000000000000539","journal-title":"Neurol Genet"},{"key":"888_CR6","doi-asserted-by":"publisher","first-page":"2329048X2311766","DOI":"10.1177\/2329048X231176673","volume":"10","author":"J Macintosh","year":"2023","unstructured":"Macintosh J, Thiffault I, Pastinen T et al (2023) A recurrent de Novo variant in EIF2AK2 causes a hypomyelinating leukodystrophy. Child Neurol Open 10:2329048X231176673. https:\/\/doi.org\/10.1177\/2329048X231176673","journal-title":"Child Neurol Open"},{"key":"888_CR7","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1002\/ana.25973","volume":"89","author":"DJS Kuipers","year":"2021","unstructured":"Kuipers DJS, Mandemakers W, Lu C-S et al (2021) EIF2AK2 missense variants associated with early onset generalized dystonia. Ann Neurol 89:485\u2013497. https:\/\/doi.org\/10.1002\/ana.25973","journal-title":"Ann Neurol"},{"key":"888_CR8","doi-asserted-by":"publisher","first-page":"104345","DOI":"10.1016\/j.braindev.2025.104345","volume":"47","author":"J-I Takanashi","year":"2025","unstructured":"Takanashi J-I (2025) Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy. Brain Dev 47:104345. https:\/\/doi.org\/10.1016\/j.braindev.2025.104345","journal-title":"Brain Dev"},{"key":"888_CR9","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1016\/j.ajhg.2013.04.006","volume":"92","author":"RJ Taft","year":"2013","unstructured":"Taft RJ, Vanderver A, Leventer RJ et al (2013) Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet 92:774\u2013780. https:\/\/doi.org\/10.1016\/j.ajhg.2013.04.006","journal-title":"Am J Hum Genet"},{"key":"888_CR10","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1016\/j.ajhg.2018.02.011","volume":"102","author":"MI Mendes","year":"2018","unstructured":"Mendes MI, Gutierrez Salazar M, Guerrero K et al (2018) Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a hypomyelinating leukodystrophy. Am J Hum Genet 102:676\u2013684. https:\/\/doi.org\/10.1016\/j.ajhg.2018.02.011","journal-title":"Am J Hum Genet"},{"key":"888_CR11","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1055\/s-0039-1679911","volume":"50","author":"Z Rezaei","year":"2019","unstructured":"Rezaei Z, Hosseinpour S, Ashrafi MR et al (2019) Hypomyelinating leukodystrophy with spinal cord involvement caused by a novel variant in RARS: report of two unrelated patients. Neuropediatrics 50:130\u2013134. https:\/\/doi.org\/10.1055\/s-0039-1679911","journal-title":"Neuropediatrics"},{"key":"888_CR12","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1038\/s10038-021-00921-1","volume":"66","author":"D Tonduti","year":"2021","unstructured":"Tonduti D, Mura E, Masnada S et al (2021) Spinal cord involvement and paroxysmal events in infantile onset transient hypomyelination due to TMEM63A mutation. J Hum Genet 66:1035\u20131037. https:\/\/doi.org\/10.1038\/s10038-021-00921-1","journal-title":"J Hum Genet"},{"key":"888_CR13","doi-asserted-by":"publisher","first-page":"1724","DOI":"10.1002\/lary.25076","volume":"125","author":"M Lesnik","year":"2015","unstructured":"Lesnik M, Thierry B, Blanchard M et al (2015) Idiopathic bilateral vocal cord paralysis in infants: case series and literature review. Laryngoscope 125:1724\u20131728. https:\/\/doi.org\/10.1002\/lary.25076","journal-title":"Laryngoscope"},{"key":"888_CR14","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.nmd.2017.01.006","volume":"27","author":"AA Zambon","year":"2017","unstructured":"Zambon AA, Natali Sora MG, Cantarella G et al (2017) Vocal cord paralysis in Charcot-Marie-Tooth type 4B1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. Neuromuscul Disord 27:487\u2013491. https:\/\/doi.org\/10.1016\/j.nmd.2017.01.006","journal-title":"Neuromuscul Disord"},{"key":"888_CR15","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1007\/s12098-009-0303-y","volume":"77","author":"S Beri","year":"2010","unstructured":"Beri S, Hussain N, Gosalakkal JA (2010) Connatal Pelizaeus-Merzbacher disease: a great masquerader. Indian J Pediatr 77:338. https:\/\/doi.org\/10.1007\/s12098-009-0303-y","journal-title":"Indian J Pediatr"},{"key":"888_CR16","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1055\/s-0032-1306388","volume":"32","author":"GM Hobson","year":"2012","unstructured":"Hobson GM, Garbern JY (2012) Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Semin Neurol 32:62\u201367. https:\/\/doi.org\/10.1055\/s-0032-1306388","journal-title":"Semin Neurol"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00888-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-026-00888-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00888-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T20:03:46Z","timestamp":1771877026000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-026-00888-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,23]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["888"],"URL":"https:\/\/doi.org\/10.1007\/s10048-026-00888-1","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,23]]},"assertion":[{"value":"12 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient and family members were enrolled in an institutional review board-approved study with informed consent at Kanagawa Children\u2019s Medical Center.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"18"}}