{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:21:30Z","timestamp":1789150890840,"version":"build-2803163510"},"reference-count":100,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1016\/j.jns.2019.03.021","type":"journal-article","created":{"date-parts":[[2019,3,23]],"date-time":"2019-03-23T04:00:36Z","timestamp":1553313636000},"page":"135-141","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":57,"special_numbering":"C","title":["Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes"],"prefix":"10.1016","volume":"400","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2839-7305","authenticated-orcid":false,"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2019.03.021_bb0005","doi-asserted-by":"crossref","first-page":"26","DOI":"10.2174\/1874205X01206010026","article-title":"Stroke and stroke-like episodes in muscle disease","volume":"6","author":"Finsterer","year":"2012","journal-title":"Open Neurol. J."},{"key":"10.1016\/j.jns.2019.03.021_bb0010","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1590\/0004-282X20150154","article-title":"When should MELAS (mitochondrial myopathy, encephalopathy, lactic Acidosis, and stroke-like episodes) be the diagnosis?","volume":"73","author":"Lorenzoni","year":"2015","journal-title":"Arq. Neuropsiquiatr."},{"key":"10.1016\/j.jns.2019.03.021_bb0015","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/0960-8966(92)90045-8","article-title":"Melas: an original case and clinical criteria for diagnosis","volume":"2","author":"Hirano","year":"1992","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.jns.2019.03.021_bb0020","doi-asserted-by":"crossref","first-page":"128","DOI":"10.3349\/ymj.2001.42.1.128","article-title":"Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks","volume":"42","author":"Kim","year":"2001","journal-title":"Yonsei Med. J."},{"key":"10.1016\/j.jns.2019.03.021_bb0025","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/1531-8249(199903)45:3<389::AID-ANA16>3.0.CO;2-B","article-title":"Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency","volume":"45","author":"Morin","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0030","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.jns.2017.12.033","article-title":"Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features","volume":"385","author":"Zhang","year":"2018","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jns.2019.03.021_bb0035","first-page":"130","article-title":"Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children","volume":"51","author":"Liu","year":"2013","journal-title":"Zhonghua Er Ke Za Zhi"},{"issue":"2","key":"10.1016\/j.jns.2019.03.021_bb0040","doi-asserted-by":"crossref","first-page":"245","DOI":"10.4103\/jnrp.jnrp_446_17","article-title":"Involvement of the spinal cord in mitochondrial disorders","volume":"9","author":"Finsterer","year":"2018","journal-title":"J. Neurosci. Rural Pract."},{"key":"10.1016\/j.jns.2019.03.021_bb0045","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s13760-016-0671-9","article-title":"Progression of stroke-like lesions along the cortico-ponto-cerebellar tract","volume":"117","author":"Taieb","year":"2017","journal-title":"Acta Neurol. Belg."},{"key":"10.1016\/j.jns.2019.03.021_bb0050","article-title":"Stroke-like episode of the optic nerve","author":"Finsterer","year":"2018","journal-title":"Can. J. Ophthalmol."},{"key":"10.1016\/j.jns.2019.03.021_bb0055","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1212\/WNL.59.6.816","article-title":"Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome","volume":"59","author":"Iizuka","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2019.03.021_bb0060","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1161\/STROKEAHA.108.523118","article-title":"Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes","volume":"40","author":"Tzoulis","year":"2009","journal-title":"Stroke"},{"key":"10.1016\/j.jns.2019.03.021_bb0065","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/B978-0-12-801415-8.00021-7","article-title":"MR OEF imaging in MELAS","volume":"547","author":"Xie","year":"2014","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.jns.2019.03.021_bb0070","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.jns.2012.09.011","article-title":"MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS","volume":"323","author":"Wang","year":"2012","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jns.2019.03.021_bb0075","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1007\/s002340000335","article-title":"Serial diffusion-weighted imaging in MELAS","volume":"42","author":"Ohshita","year":"2000","journal-title":"Neuroradiology"},{"key":"10.1016\/j.jns.2019.03.021_bb0080","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1136\/jnnp-2013-306933","article-title":"Neurological picture. Cortical susceptibility-weighted imaging hypointensity after stroke-like episode in MELAS","volume":"85","author":"Renard","year":"2014","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.jns.2019.03.021_bb0085","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.pediatrneurol.2017.06.017","article-title":"Black toenail sign in MELAS syndrome","volume":"75","author":"Whitehead","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0090","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1055\/s-2007-973500","article-title":"Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS","volume":"30","author":"Wilichowski","year":"1999","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jns.2019.03.021_bb0095","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1212\/01.WNL.0000091888.26232.FE","article-title":"Slowly progressive spread of the stroke-like lesions in MELAS","volume":"61","author":"Iizuka","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2019.03.021_bb0100","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1001\/archneur.55.6.849","article-title":"Magnetic resonance spectroscopy: use in monitoring MELAS treatment","volume":"55","author":"Pavlakis","year":"1998","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0105","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3348\/kjr.2011.12.1.15","article-title":"Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients","volume":"12","author":"Kim","year":"2011","journal-title":"Korean J. Radiol."},{"key":"10.1016\/j.jns.2019.03.021_bb0110","doi-asserted-by":"crossref","first-page":"333","DOI":"10.4330\/wjc.v8.i5.333","article-title":"Mitochondrial vasculopathy","volume":"8","author":"Finsterer","year":"2016","journal-title":"World J. Cardiol."},{"key":"10.1016\/j.jns.2019.03.021_bb0115","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.2169\/internalmedicine.52.0188","article-title":"MELAS and reversible vasoconstriction of the major cerebral arteries","volume":"52","author":"Yoshida","year":"2013","journal-title":"Intern. Med."},{"key":"10.1016\/j.jns.2019.03.021_bb0120","doi-asserted-by":"crossref","first-page":"620","DOI":"10.4103\/0366-6999.176984","article-title":"Dandy-Walker malformation and mitochondrial encephalopathy, lactic acidosis, and stroke-like episode syndrome: is there a causal or coincidental association?","volume":"129","author":"Li","year":"2016","journal-title":"Chin. Med. J."},{"key":"10.1016\/j.jns.2019.03.021_bb0125","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2015.06.004","article-title":"MELAS syndrome: clinical manifestations, pathogenesis, and treatment options","volume":"116","author":"El-Hattab","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2019.03.021_bb0130","article-title":"Reversible dilation of cerebral macrovascular changes in MELAS episodes","author":"Li","year":"2018","journal-title":"Clin. Neuroradiol."},{"key":"10.1016\/j.jns.2019.03.021_bb0135","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1161\/01.STR.25.9.1873","article-title":"Cerebral hyperemia in MELAS","volume":"25","author":"Gropen","year":"1994","journal-title":"Stroke"},{"key":"10.1016\/j.jns.2019.03.021_bb0140","first-page":"38","article-title":"Usefulness of L-arginine infusion for status epilepticus in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes","volume":"39","author":"Toribe","year":"2007","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.jns.2019.03.021_bb0145","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.pediatrneurol.2015.12.010","article-title":"Mitochondrial Encephalomyopathy lactic acidosis and stroke-like episodes (MELAS): a case report and critical reappraisal of treatment options","volume":"56","author":"Fryer","year":"2016","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0150","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1111\/epi.12570","article-title":"Seizure semiology and EEG findings in mitochondrial diseases","volume":"55","author":"Chevallier","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.jns.2019.03.021_bb0155","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1002\/ana.24525","article-title":"Epilepsy in adults with mitochondrial disease: a cohort study","volume":"78","author":"Whittaker","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0160","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1097\/RLU.0b013e318262ad48","article-title":"Ictal and interictal 99mTc-HMPAO brain SPECT of a MELAS case presented with epilepsy-like visual hallucination","volume":"37","author":"Wei","year":"2012","journal-title":"Clin. Nucl. Med."},{"key":"10.1016\/j.jns.2019.03.021_bb0165","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.yebeh.2010.05.020","article-title":"MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review","volume":"18","author":"Kaufman","year":"2010","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.jns.2019.03.021_bb0170","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1097\/NRL.0000000000000003","article-title":"The syndrome of stroke-like migraine attacks after radiation therapy associated with prolonged unresponsiveness in an adult patient","volume":"19","author":"Tomek","year":"2015","journal-title":"Neurologist"},{"key":"10.1016\/j.jns.2019.03.021_bb0175","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1136\/practneurol-2016-001385","article-title":"Stroke-like migraine attack after cranial radiation therapy: the SMART syndrome","volume":"16","author":"Lim","year":"2016","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0180","doi-asserted-by":"crossref","first-page":"323","DOI":"10.4103\/0028-3886.16932","article-title":"Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome","volume":"53","author":"Jian-Ren","year":"2005","journal-title":"Neurol. India"},{"key":"10.1016\/j.jns.2019.03.021_bb0185","author":"Pia"},{"key":"10.1016\/j.jns.2019.03.021_bb0190","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1177\/197140091102400312","article-title":"Spectroscopy in patients with Leigh syndrome","volume":"24","author":"Jurkiewicz","year":"2011","journal-title":"Neuroradiol. J."},{"key":"10.1016\/j.jns.2019.03.021_bb0195","article-title":"Whether NO-precursors are truly beneficial for stroke-like episodes remains unsolved","author":"Finsterer","year":"2018","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0200","doi-asserted-by":"crossref","DOI":"10.1177\/2326409817697399","article-title":"Arginine and citrulline for the treatment of MELAS syndrome","volume":"5","author":"El-Hattab","year":"2017","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"10.1016\/j.jns.2019.03.021_bb0205","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ijcard.2017.06.001","article-title":"The utility of arginine-citrulline stable isotope tracer infusion technique in the assessment of nitric oxide production in MELAS syndrome","volume":"254","author":"El-Hattab","year":"2018","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.jns.2019.03.021_bb0210","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.3945\/jn.117.248435","article-title":"Assessment of nitric oxide production in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with the use of a stable isotope tracer infusion technique","volume":"147","author":"El-Hattab","year":"2017","journal-title":"J. Nutr."},{"key":"10.1016\/j.jns.2019.03.021_bb0215","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.ymgme.2016.01.010","article-title":"Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation","volume":"117","author":"El-Hattab","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2019.03.021_bb0220","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.ymgme.2012.06.018","article-title":"Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders","volume":"107","author":"El-Hattab","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2019.03.021_bb0225","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.mito.2014.07.008","article-title":"Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation","volume":"18","author":"El-Hattab","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jns.2019.03.021_bb0230","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.biocel.2013.12.009","article-title":"Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome","volume":"48","author":"El-Hattab","year":"2014","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.jns.2019.03.021_bb0235","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.ymgme.2012.01.016","article-title":"Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation","volume":"105","author":"El-Hattab","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2019.03.021_bb0240","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ymgme.2018.01.010","article-title":"8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease","volume":"123","author":"Ganetzky","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2019.03.021_bb0245","doi-asserted-by":"crossref","first-page":"446","DOI":"10.5692\/clinicalneurol.53.446","article-title":"A case of MELAS with G13513A mutation presenting with chronic kidney disease long before stroke-like episodes","volume":"53","author":"Motoda","year":"2013","journal-title":"Rinsho Shinkeigaku"},{"key":"10.1016\/j.jns.2019.03.021_bb0250","doi-asserted-by":"crossref","first-page":"e239","DOI":"10.1097\/RLU.0b013e318286bd6f","article-title":"Multimodal imaging-monitored progression of stroke-like episodes in a case of MELAS syndrome","volume":"39","author":"Namer","year":"2014","journal-title":"Clin. Nucl. Med."},{"key":"10.1016\/j.jns.2019.03.021_bb0255","doi-asserted-by":"crossref","first-page":"882","DOI":"10.5692\/clinicalneurol.54.882","article-title":"Effectiveness of midazolam for L-arginine-resistant headaches during stroke-like episodes in MELAS: a case report","volume":"54","author":"Tsujikawa","year":"2014","journal-title":"Rinsho Shinkeigaku"},{"key":"10.1016\/j.jns.2019.03.021_bb0260","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1517\/17425255.2012.644535","article-title":"Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders","volume":"8","author":"Finsterer","year":"2012","journal-title":"Expert Opin. Drug Metab. Toxicol."},{"key":"10.1016\/j.jns.2019.03.021_bb0265","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.braindev.2004.01.006","article-title":"Beneficial effect of L-arginine for stroke-like episode in MELAS","volume":"26","author":"Kubota","year":"2004","journal-title":"Brain Dev."},{"key":"10.1016\/j.jns.2019.03.021_bb0270","first-page":"416","article-title":"A case of stroke-like episode of MELAS of which progressive spread would be prevented by edaravone","volume":"45","author":"Maeda","year":"2005","journal-title":"Rinsho Shinkeigaku"},{"key":"10.1016\/j.jns.2019.03.021_bb0275","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/NRL.0b013e318247bcd8","article-title":"Steroid responsive A3243G mutation MELAS: clinical and radiographic evidence for regional hyperperfusion leading to neuronal loss","volume":"18","author":"Walcott","year":"2012","journal-title":"Neurologist"},{"key":"10.1016\/j.jns.2019.03.021_bb0280","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.msard.2018.01.003","article-title":"Mitochondrial leukoencephalopathies: a border zone between acquired and inherited white matter disorders in children?","volume":"20","author":"Bindu","year":"2018","journal-title":"Mult. Scler. Relat. Disord."},{"key":"10.1016\/j.jns.2019.03.021_bb0285","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.pediatrneurol.2014.01.009","article-title":"Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet","volume":"50","author":"Steriade","year":"2014","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0290","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1177\/0883073809334380","article-title":"Depressive episode with catatonic features in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)","volume":"24","author":"Ryu","year":"2009","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0295","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2017.09.009","article-title":"Therapies for mitochondrial diseases and current clinical trials","volume":"122","author":"El-Hattab","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2019.03.021_bb0300","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/0022-510X(88)90005-6","article-title":"An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain","volume":"86","author":"Kishi","year":"1988","journal-title":"J. Neurol. Sci."},{"issue":"12","key":"10.1016\/j.jns.2019.03.021_bb0305","first-page":"39","article-title":"Association between stroke-like episodes and neuronal hyperexcitability in MELAS with m.3243A>G: a case report","volume":"22","author":"Sakai","year":"2018","journal-title":"e Neurological Sci."},{"key":"10.1016\/j.jns.2019.03.021_bb0310","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s00415-009-0921-3","article-title":"A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes","volume":"256","author":"Zaganas","year":"2009","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0315","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1445-5994.1994.tb00556.x","article-title":"Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies","volume":"24","author":"Jean-Francois","year":"1994","journal-title":"Aust. NZ J. Med."},{"key":"10.1016\/j.jns.2019.03.021_bb0320","first-page":"680","article-title":"A case of incomplete Kearns-Sayre syndrome with a stroke like episode","volume":"37","author":"Furuya","year":"1997","journal-title":"Rinsho Shinkeigaku"},{"key":"10.1016\/j.jns.2019.03.021_bb0325","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1002\/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R","article-title":"The mitochondrial DNA G13513A transition in ND5 is associated with a LHON\/MELAS overlap syndrome and may be a frequent cause of MELAS","volume":"46","author":"Pulkes","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0330","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1007\/s00415-018-9014-5","article-title":"Mitochondrial DNA mutations in late-onset Leigh syndrome","volume":"265","author":"Wei","year":"2018","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0335","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.cca.2015.06.028","article-title":"Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke","volume":"448","author":"Lam","year":"2015","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jns.2019.03.021_bb0340","first-page":"264187","article-title":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis","author":"Al-Hassnan","year":"2008","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jns.2019.03.021_bb0345","first-page":"19","article-title":"Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes","volume":"17","author":"Bosch","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"2","key":"10.1016\/j.jns.2019.03.021_bb0350","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19020619","article-title":"Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): evidence for hypoglycosylation-driven channelopathy","volume":"19","author":"Izquierdo-Serra","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.jns.2019.03.021_bb0355","first-page":"363","article-title":"A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode\/Leigh overlap syndrome","volume":"46","author":"Matsui","year":"2014","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.jns.2019.03.021_bb0360","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1007\/s00415-014-7257-3","article-title":"Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene","volume":"261","author":"Battisti","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0365","first-page":"5","article-title":"Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients","volume":"4","author":"De Greef","year":"2012","journal-title":"JIMD Rep."},{"key":"10.1016\/j.jns.2019.03.021_bb0370","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1186\/1750-1172-8-173","article-title":"Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression","volume":"8","author":"Mignot","year":"2013","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.jns.2019.03.021_bb0375","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.pediatrneurol.2014.10.019","article-title":"An atypical case of Canavan disease with stroke-like presentation","volume":"52","author":"Delaney","year":"2015","journal-title":"Pediatr. Neurol."},{"issue":"Suppl. 2","key":"10.1016\/j.jns.2019.03.021_bb0380","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1016\/S0929-6646(09)60349-1","article-title":"Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"106","author":"Liang","year":"2007","journal-title":"J. Formos. Med. Assoc."},{"key":"10.1016\/j.jns.2019.03.021_bb0385","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.braindev.2008.03.012","article-title":"Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia","volume":"31","author":"Ishikawa","year":"2009","journal-title":"Brain Dev."},{"key":"10.1016\/j.jns.2019.03.021_bb0390","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1111\/j.1469-8749.2010.03674.x","article-title":"X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode","volume":"52","author":"Anand","year":"2010","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0395","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1111\/jns5.12070","article-title":"X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation","volume":"19","author":"Sagnelli","year":"2014","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.jns.2019.03.021_bb0400","doi-asserted-by":"crossref","first-page":"458","DOI":"10.3143\/geriatrics.46.458","article-title":"A case of Creutzfeldt-Jakob disease with stroke-like episode as an initial symptom","volume":"46","author":"Kamogawa","year":"2009","journal-title":"Nippon Ronen Igakkai Zasshi"},{"key":"10.1016\/j.jns.2019.03.021_bb0405","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1055\/s-0029-1231065","article-title":"Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation","volume":"40","author":"Scholl-B\u00fcrgi","year":"2009","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jns.2019.03.021_bb0410","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1097\/00019605-199801000-00015","article-title":"Livedo reticularis, developmental delay and stroke-like-episode in a 7-year-old male","volume":"7","author":"Wheeler","year":"1998","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.jns.2019.03.021_bb0415","doi-asserted-by":"crossref","first-page":"e245","DOI":"10.1016\/j.jstrokecerebrovasdis.2015.04.042","article-title":"Stroke-like episodes heralding a reversible encephalopathy: microbleeds as the key to the diagnosis of cerebral amyloid angiopathy-related inflammation-a case report and literature review","volume":"24","author":"Mendon\u00e7a","year":"2015","journal-title":"J. Stroke Cerebrovasc. Dis."},{"key":"10.1016\/j.jns.2019.03.021_bb0420","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF01799350","article-title":"Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine","volume":"19","author":"Broyer","year":"1996","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jns.2019.03.021_bb0425","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1186\/s12883-017-1001-4","article-title":"Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report","volume":"17","author":"Mezuki","year":"2017","journal-title":"BMC Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0430","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3988\/jcn.2015.11.1.104","article-title":"Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode syndrome presenting with prolonged visual aura","volume":"11","author":"Jung","year":"2015","journal-title":"J. Clin. Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0435","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.12740\/PP\/24062","article-title":"Psychiatric disturbances in five patients with MELAS syndrome","volume":"48","author":"Magner","year":"2014","journal-title":"Psychiatr. Pol."},{"key":"10.1016\/j.jns.2019.03.021_bb0440","first-page":"37","article-title":"Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271","volume":"43","author":"Barisi\u0107","year":"2002","journal-title":"Croat. Med. J."},{"key":"10.1016\/j.jns.2019.03.021_bb0445","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0022-510X(03)00168-0","article-title":"Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA","volume":"214","author":"Jeppesen","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jns.2019.03.021_bb0450","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ebiom.2018.02.010","volume":"30","author":"Ng","year":"2018","journal-title":"EBioMedicine"},{"key":"10.1016\/j.jns.2019.03.021_bb0455","doi-asserted-by":"crossref","first-page":"2695","DOI":"10.2169\/internalmedicine.8962-17","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to a m.10158T>C ND3 mutation with a normal muscle biopsy","volume":"56","author":"Mukai","year":"2017","journal-title":"Intern. Med."},{"key":"10.1016\/j.jns.2019.03.021_bb0460","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/j.nmd.2012.06.003","article-title":"MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I","volume":"22","author":"Lamperti","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.jns.2019.03.021_bb0465","first-page":"399","article-title":"A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome","volume":"64","author":"Vastagh","year":"2011","journal-title":"Ideggyogy Sz"},{"key":"10.1016\/j.jns.2019.03.021_bb0470","first-page":"128","article-title":"MELAS syndrome in a patient with a point mutation in MTTS1","volume":"117","author":"Lindberg","year":"2008","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.jns.2019.03.021_bb0475","first-page":"460","article-title":"A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS","volume":"5","author":"Menotti","year":"2004","journal-title":"Ital. Heart. J."},{"key":"10.1016\/j.jns.2019.03.021_bb0480","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.mito.2017.05.005","article-title":"Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome","volume":"35","author":"Yoo","year":"2017","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jns.2019.03.021_bb0485","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1471-2377-13-8","article-title":"POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome","volume":"13","author":"Cheldi","year":"2013","journal-title":"BMC Neurol."},{"key":"10.1016\/j.jns.2019.03.021_bb0490","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddm072","article-title":"Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy","volume":"16","author":"Fernandez-Vizarra","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jns.2019.03.021_bb0495","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1093\/brain\/awp045","article-title":"Recessive twinkle mutations cause severe epileptic encephalopathy","volume":"132","author":"L\u00f6nnqvist","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jns.2019.03.021_bb0500","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ajhg.2007.12.022","article-title":"CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures","volume":"82","author":"Mollet","year":"2008","journal-title":"Am. J. Hum. Genet."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X19301479?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X19301479?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:47:27Z","timestamp":1758383247000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X19301479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":100,"alternative-id":["S0022510X19301479"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2019.03.021","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2019.03.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}