{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T17:18:08Z","timestamp":1781111888729,"version":"3.54.1"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T00:00:00Z","timestamp":1742515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T00:00:00Z","timestamp":1742515200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271493"],"award-info":[{"award-number":["82271493"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,4]]},"DOI":"10.1007\/s00415-025-13009-z","type":"journal-article","created":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T02:08:30Z","timestamp":1742695710000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China"],"prefix":"10.1007","volume":"272","author":[{"given":"Chaolong","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sisi","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huafang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhimei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunxi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianyu","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minhan","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tongyue","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1587-9965","authenticated-orcid":false,"given":"Fang","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,21]]},"reference":[{"key":"13009_CR1","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/j.bbagen.2011.03.012","volume":"1820","author":"S Yatsuga","year":"2012","unstructured":"Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T et al (2012) MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta 1820:619\u2013624. https:\/\/doi.org\/10.1016\/j.bbagen.2011.03.012","journal-title":"Biochim Biophys Acta"},{"key":"13009_CR2","doi-asserted-by":"publisher","first-page":"602","DOI":"10.3174\/ajnr.A7906","volume":"44","author":"CAPF Alves","year":"2023","unstructured":"Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN et al (2023) MELAS: phenotype classification into classic-versus-atypical presentations. AJNR Am J Neuroradiol 44:602\u2013610. https:\/\/doi.org\/10.3174\/ajnr.A7906","journal-title":"AJNR Am J Neuroradiol"},{"key":"13009_CR3","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1002\/ana.21174","volume":"62","author":"J Uusimaa","year":"2007","unstructured":"Uusimaa J, Moilanen JS, Vainionp\u00e4\u00e4 L, Tapanainen P, Lindholm P, Nuutinen M et al (2007) Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann Neurol 62:278\u2013287. https:\/\/doi.org\/10.1002\/ana.21174","journal-title":"Ann Neurol"},{"key":"13009_CR4","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.mito.2021.09.004","volume":"62","author":"Y Shi","year":"2022","unstructured":"Shi Y, Chen G, Sun D, Hu C, Liu Z, Shen D et al (2022) Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: a multi-center study. Mitochondrion 62:139\u2013150. https:\/\/doi.org\/10.1016\/j.mito.2021.09.004","journal-title":"Mitochondrion"},{"key":"13009_CR5","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.638749","volume":"12","author":"M Xu","year":"2021","unstructured":"Xu M, Kopajtich R, Elstner M, Wang Z, Liu Z, Wang J et al (2021) Identification of a novel variant in MT-CO3 causing MELAS. Front Genet 12:638749. https:\/\/doi.org\/10.3389\/fgene.2021.638749","journal-title":"Front Genet"},{"key":"13009_CR6","doi-asserted-by":"publisher","first-page":"2192","DOI":"10.1007\/s00415-020-10266-8","volume":"268","author":"S Chakrabarty","year":"2021","unstructured":"Chakrabarty S, Govindaraj P, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P et al (2021) Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. J Neurol 268:2192\u20132207. https:\/\/doi.org\/10.1007\/s00415-020-10266-8","journal-title":"J Neurol"},{"key":"13009_CR7","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.mito.2017.03.002","volume":"35","author":"DH Yoo","year":"2017","unstructured":"Yoo DH, Choi YC, Nam DE, Choi SS, Kim JW, Choi BO et al (2017) Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion 35:54\u201358. https:\/\/doi.org\/10.1016\/j.mito.2017.03.002","journal-title":"Mitochondrion"},{"key":"13009_CR8","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.32709","volume":"14","author":"JM Argudo","year":"2022","unstructured":"Argudo JM, Astudillo Moncayo OM, Insuasti W, Garofalo G, Aguirre AS, Encalada S et al (2022) Arginine for the treatment of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: a systematic review. Cureus 14:e32709. https:\/\/doi.org\/10.7759\/cureus.32709","journal-title":"Cureus"},{"issue":"5","key":"13009_CR9","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1136\/jnnp-2018-319303","volume":"90","author":"Y Ohsawa","year":"2019","unstructured":"Ohsawa Y, Hagiwara H, Nishimatsu SI, Hirakawa A, Kamimura N, Ohtsubo H et al (2019) Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial. J Neurol Neurosurg Psychiatry 90(5):529\u2013536. https:\/\/doi.org\/10.1136\/jnnp-2018-319303","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"13009_CR10","doi-asserted-by":"publisher","first-page":"2861","DOI":"10.1007\/s00415-018-9087-0","volume":"265","author":"Y Koga","year":"2018","unstructured":"Koga Y, Povalko N, Inoue E, Nakamura H, Ishii A, Suzuki Y et al (2018) Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research. J Neurol 265:2861\u20132874. https:\/\/doi.org\/10.1007\/s00415-018-9087-0","journal-title":"J Neurol"},{"key":"13009_CR11","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1038\/gim.2014.177","volume":"17","author":"S Parikh","year":"2015","unstructured":"Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R et al (2015) Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial Medicine Society. Genet Med 17:689\u2013701. https:\/\/doi.org\/10.1038\/gim.2014.177","journal-title":"Genet Med"},{"key":"13009_CR12","doi-asserted-by":"publisher","first-page":"201","DOI":"10.12688\/wellcomeopenres.15581.1","volume":"4","author":"YS Ng","year":"2019","unstructured":"Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M et al (2019) Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res 4:201. https:\/\/doi.org\/10.12688\/wellcomeopenres.15581.1","journal-title":"Wellcome Open Res"},{"key":"13009_CR13","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.jns.2017.12.019","volume":"385","author":"Z Zhang","year":"2018","unstructured":"Zhang Z, Zhao D, Zhang X, Xiong H, Bao X, Yuan Y et al (2018) Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features. J Neurol Sci 385:151\u2013155. https:\/\/doi.org\/10.1016\/j.jns.2017.12.019","journal-title":"J Neurol Sci"},{"key":"13009_CR14","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.ijcard.2018.11.102","volume":"276","author":"A Brambilla","year":"2019","unstructured":"Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L et al (2019) Clinical profile and outcome of cardiac involvement in MELAS syndrome. Int J Cardiol 276:14\u201319. https:\/\/doi.org\/10.1016\/j.ijcard.2018.11.102","journal-title":"Int J Cardiol"},{"key":"13009_CR15","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.nmd.2006.08.003","volume":"16","author":"C Phoenix","year":"2006","unstructured":"Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G et al (2006) A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord 16:814\u2013820. https:\/\/doi.org\/10.1016\/j.nmd.2006.08.003","journal-title":"Neuromuscul Disord"},{"key":"13009_CR16","doi-asserted-by":"publisher","first-page":"171","DOI":"10.3760\/cma.j.issn.1006-7876.2020.03.001","volume":"53","author":"Rare Diseases Branch of Beijing Medical Association, National Department of Neurology, China National Research Collaborative Group on Mitochondrial Disease","year":"2020","unstructured":"Rare Diseases Branch of Beijing Medical Association, National Department of Neurology, China National Research Collaborative Group on Mitochondrial Disease (2020) Chinese expert consensus on diagnosis and treatment of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Chin J Neurol 53:171\u2013178. https:\/\/doi.org\/10.3760\/cma.j.issn.1006-7876.2020.03.001","journal-title":"Chin J Neurol"},{"key":"13009_CR17","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1046\/j.1528-1157.2001.4220282.x","volume":"42","author":"HG Wieser","year":"2001","unstructured":"Wieser HG, Blume WT, Fish D, Goldensohn E, Hufnagel A, King D et al (2001) ILAE commission report. Proposal for a new classification of outcome with respect to epileptic seizures following epilepsy surgery. Epilepsia 42:282\u2013286. https:\/\/doi.org\/10.1046\/j.1528-1157.2001.4220282.x","journal-title":"Epilepsia"},{"key":"13009_CR18","doi-asserted-by":"publisher","first-page":"1965","DOI":"10.1212\/WNL.0b013e31823a0c7b","volume":"77","author":"P Kaufmann","year":"2011","unstructured":"Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM et al (2011) Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology 77:1965\u20131971. https:\/\/doi.org\/10.1212\/WNL.0b013e31823a0c7b","journal-title":"Neurology"},{"issue":"7","key":"13009_CR19","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1955","volume":"10","author":"LM Seed","year":"2022","unstructured":"Seed LM, Dean A, Krishnakumar D, Phyu P, Horvath R, Harijan PD (2022) Molecular and neurological features of MELAS syndrome in paediatric patients: a case series and review of the literature. Mol Genet Genomic Med 10(7):e1955. https:\/\/doi.org\/10.1002\/mgg3.1955","journal-title":"Mol Genet Genomic Med"},{"key":"13009_CR20","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.ymgme.2015.06.004","volume":"116","author":"AW El-Hattab","year":"2015","unstructured":"El-Hattab AW, Adesina AM, Jones J, Scaglia F (2015) MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab 116:4\u201312. https:\/\/doi.org\/10.1016\/j.ymgme.2015.06.004","journal-title":"Mol Genet Metab"},{"key":"13009_CR21","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.ymgme.2016.02.006","volume":"117","author":"AW El-Hattab","year":"2016","unstructured":"El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ et al (2016) Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab 117:407\u2013412. https:\/\/doi.org\/10.1016\/j.ymgme.2016.02.006","journal-title":"Mol Genet Metab"},{"key":"13009_CR22","doi-asserted-by":"publisher","first-page":"29","DOI":"10.2174\/1567202052773093","volume":"2","author":"T Iizuka","year":"2005","unstructured":"Iizuka T, Sakai F (2005) Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res 2:29\u201345. https:\/\/doi.org\/10.2174\/1567202052773093","journal-title":"Curr Neurovasc Res"},{"key":"13009_CR23","doi-asserted-by":"publisher","first-page":"1553","DOI":"10.1177\/0883073814550834","volume":"30","author":"J Finsterer","year":"2015","unstructured":"Finsterer J, Zarrouk-Mahjoub S (2015) Focal and generalized seizures may occur in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) patients. J Child Neurol 30:1553\u20131554. https:\/\/doi.org\/10.1177\/0883073814550834","journal-title":"J Child Neurol"},{"key":"13009_CR24","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.pediatrneurol.2014.02.008","volume":"50","author":"C Steriade","year":"2014","unstructured":"Steriade C, Andrade DM, Faghfoury H, Tarnopolsky MA, Tai P (2014) Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet. Pediatr Neurol 50:498\u2013502. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2014.02.008","journal-title":"Pediatr Neurol"},{"key":"13009_CR25","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1007\/s00415-019-09288-x","volume":"266","author":"Y Hongo","year":"2019","unstructured":"Hongo Y, Kaneko J, Suga H, Ishima D, Kitamura E, Akutsu T et al (2019) A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features. J Neurol 266:1459\u20131472. https:\/\/doi.org\/10.1007\/s00415-019-09288-x","journal-title":"J Neurol"},{"key":"13009_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2020.102784","volume":"56","author":"SL Stenton","year":"2020","unstructured":"Stenton SL, Prokisch H (2020) Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine 56:102784. https:\/\/doi.org\/10.1016\/j.ebiom.2020.102784","journal-title":"EBioMedicine"},{"key":"13009_CR27","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/acn3.539","volume":"5","author":"SJ Pickett","year":"2018","unstructured":"Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ et al (2018) Phenotypic heterogeneity in m.3243A>G mitochondrial disease: the role of nuclear factors. Ann Clin Transl Neurol 5:333\u2013345. https:\/\/doi.org\/10.1002\/acn3.539","journal-title":"Ann Clin Transl Neurol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-13009-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-025-13009-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-13009-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T10:10:00Z","timestamp":1744971000000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-025-13009-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,21]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["13009"],"URL":"https:\/\/doi.org\/10.1007\/s00415-025-13009-z","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,21]]},"assertion":[{"value":"18 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 February 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 March 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no possible conflicts of interest or personal relationships to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This research was approved by the Ethics Committee of Beijing Children\u2019s Hospital Affiliated to Capital Medical University, and the guardians of all participants provided written informed consent to participate ([2022]-E-121Y).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}],"article-number":"280"}}