{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T18:57:16Z","timestamp":1786993036345,"version":"build-2736575974"},"reference-count":43,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2025,9]]},"DOI":"10.1016\/j.jns.2025.123605","type":"journal-article","created":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T09:37:58Z","timestamp":1752572278000},"page":"123605","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Neuroimaging patterns in patients with mitochondrial leukoencephalopathies"],"prefix":"10.1016","volume":"476","author":[{"given":"Sonal","family":"Sharma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Peterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesar Augusto","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.jns.2025.123605_bb0005","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1002\/glia.22670","article-title":"Mitochondrial dysfunction in central nervous system white matter disorders","volume":"62","author":"Morat\u00f3","year":"2014","journal-title":"Glia"},{"issue":"5","key":"10.1016\/j.jns.2025.123605_bb0010","first-page":"1119","article-title":"Mitochondrial disorders: analysis of their clinical and imaging characteristics","volume":"14","author":"Barkovich","year":"1993","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"4","key":"10.1016\/j.jns.2025.123605_bb0015","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1159\/000117128","article-title":"Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features","volume":"35","author":"Huang","year":"1995","journal-title":"Eur. Neurol."},{"issue":"2","key":"10.1016\/j.jns.2025.123605_bb0020","first-page":"369","article-title":"Neuroradiologic findings in children with mitochondrial disorders","volume":"19","author":"Valanne","year":"1998","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"6","key":"10.1016\/j.jns.2025.123605_bb0025","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1177\/088307380201700605","article-title":"Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction","volume":"17","author":"Kang","year":"2002","journal-title":"J. Child Neurol."},{"issue":"2","key":"10.1016\/j.jns.2025.123605_bb0030","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1055\/s-2002-32372","article-title":"Cerebral white matter involvement in children with mitochondrial encephalopathies","volume":"33","author":"Moroni","year":"2002","journal-title":"Neuropediatrics"},{"issue":"7","key":"10.1016\/j.jns.2025.123605_bb0035","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.3174\/ajnr.A7097","article-title":"Imaging patterns characterizing mitochondrial Leukodystrophies","volume":"42","author":"Roosendaal","year":"2021","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.jns.2025.123605_bb0040","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.pediatrneurol.2016.09.003","article-title":"RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss-another Mendelian mimicker of congenital cytomegalovirus infection","volume":"66","author":"Ulrick","year":"2017","journal-title":"Pediatr. Neurol."},{"issue":"1\u20132","key":"10.1016\/j.jns.2025.123605_bb0045","article-title":"Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: lysine and tryptophan metabolites as potential biomarkers","volume":"140","author":"Wongkittichote","year":"2023","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.jns.2025.123605_bb0050","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1038\/emboj.2010.14","article-title":"A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome","volume":"29","author":"Richter","year":"2010","journal-title":"EMBO J."},{"issue":"1","key":"10.1016\/j.jns.2025.123605_bb0055","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ajhg.2010.06.004","article-title":"Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect","volume":"87","author":"Antonicka","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.jns.2025.123605_bb0060","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1038\/ejhg.2013.284","article-title":"Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship","volume":"22","author":"Spiegel","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.jns.2025.123605_bb0065","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.ejmg.2013.09.010","article-title":"Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation","volume":"56","author":"Buchert","year":"2013","journal-title":"Eur. J. Med. Genet."},{"issue":"12","key":"10.1016\/j.jns.2025.123605_bb0070","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1136\/jmedgenet-2012-101212","article-title":"A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)","volume":"49","author":"Shimazaki","year":"2012","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.jns.2025.123605_bb0075","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1136\/jnnp-2013-306387","article-title":"Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy","volume":"85","author":"Tucci","year":"2014","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"4","key":"10.1016\/j.jns.2025.123605_bb0080","doi-asserted-by":"crossref","first-page":"409","DOI":"10.3233\/JND-150121","article-title":"Adult onset Leigh syndrome in the intensive care setting: a novel presentation of a C12orf65 related mitochondrial disease","volume":"2","author":"Wesolowska","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"issue":"2","key":"10.1016\/j.jns.2025.123605_bb0085","doi-asserted-by":"crossref","DOI":"10.1590\/1678-4685-gmb-2018-0271","article-title":"Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review","volume":"43","author":"Perrone","year":"2020","journal-title":"Genet. Mol. Biol."},{"issue":"3","key":"10.1016\/j.jns.2025.123605_bb0090","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.ajhg.2013.07.017","article-title":"Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance [published correction appears in Am J Hum Genet. 2013 Oct 3;93(4):773]","volume":"93","author":"Bonnen","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.jns.2025.123605_bb0095","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1007\/s10545-015-9836-6","article-title":"Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations","volume":"38","author":"Huemer","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jns.2025.123605_bb0100","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.ajhg.2013.07.016","article-title":"Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy","volume":"93","author":"Gai","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2025.123605_bb0105","first-page":"1","article-title":"Detailed biochemical and bioenergetic characterization of FBXL4-related Encephalomyopathic mitochondrial DNA depletion","volume":"27","author":"Antoun","year":"2016","journal-title":"JIMD Rep."},{"issue":"2","key":"10.1016\/j.jns.2025.123605_bb0110","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ajhg.2017.07.005","article-title":"Biallelic mutations in MRPS34 Lead to instability of the small Mitoribosomal subunit and Leigh syndrome [published correction appears in Am J Hum Genet. 2018 Apr 5;102(4):713]","volume":"101","author":"Lake","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2025.123605_bb0115","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005089","article-title":"Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction","volume":"11","author":"Richman","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jns.2025.123605_bb0120","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.biocel.2013.12.011","article-title":"Mitochondria: impaired mitochondrial translation in human disease","volume":"48","author":"Boczonadi","year":"2014","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.jns.2025.123605_bb0125","article-title":"A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome","volume":"30","author":"Lenzini","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.jns.2025.123605_bb0130","series-title":"GeneReviews\u00ae [Internet]","first-page":"1993","article-title":"Single large-scale mitochondrial DNA deletion syndromes","author":"Goldstein","year":"2003"},{"issue":"8","key":"10.1016\/j.jns.2025.123605_bb0135","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","article-title":"Invited article: an MRI-based approach to the diagnosis of white matter disorders","volume":"72","author":"Schiffmann","year":"2009","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.jns.2025.123605_bb0140","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ymgme.2004.09.008","article-title":"White matter involvement in mitochondrial diseases","volume":"84","author":"Lerman-Sagie","year":"2005","journal-title":"Mol. Genet. Metab."},{"issue":"22","key":"10.1016\/j.jns.2025.123605_bb0145","doi-asserted-by":"crossref","first-page":"6059","DOI":"10.1128\/MCB.00817-09","article-title":"Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I","volume":"29","author":"Sheftel","year":"2009","journal-title":"Mol. Cell. Biol."},{"issue":"10","key":"10.1016\/j.jns.2025.123605_bb0150","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ng.659","article-title":"High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency","volume":"42","author":"Calvo","year":"2010","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.jns.2025.123605_bb0155","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.ymgme.2019.12.013","article-title":"Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement","volume":"129","author":"Friederich","year":"2020","journal-title":"Mol. Genet. Metab."},{"issue":"17","key":"10.1016\/j.jns.2025.123605_bb0160","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1212\/WNL.0b013e31828f1914","article-title":"NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern","volume":"80","author":"Kevelam","year":"2013","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.jns.2025.123605_bb0165","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/jns.12348","article-title":"Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness","volume":"24","author":"Bogdanova-Mihaylova","year":"2019","journal-title":"J. Peripher. Nerv. Syst."},{"issue":"4","key":"10.1016\/j.jns.2025.123605_bb0170","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1002\/ajmg.a.62072","article-title":"AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination","volume":"185","author":"Edgerley","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.jns.2025.123605_bb0175","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ymgme.2011.09.020","article-title":"Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing","volume":"104","author":"Berger","year":"2011","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.jns.2025.123605_bb0180","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ejpn.2017.09.004","article-title":"Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin","volume":"22","author":"Heimer","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"6","key":"10.1016\/j.jns.2025.123605_bb0185","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.3174\/ajnr.A8670","article-title":"Single large-scale mitochondrial deletion syndromes: neuroimaging phenotypes and longitudinal progression in pediatric patients","volume":"46","author":"Alves","year":"2025","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"7","key":"10.1016\/j.jns.2025.123605_bb0190","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1111\/dmcn.13027","article-title":"Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study [published correction appears in Dev Med Child Neurol. 2017 Dec;59(12):1315. doi: 10.1111\/dmcn.13573]","volume":"58","author":"Stellitano","year":"2016","journal-title":"Dev. Med. Child Neurol."},{"issue":"2","key":"10.1016\/j.jns.2025.123605_bb0195","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/nrneurol.2017.175","article-title":"Adulthood leukodystrophies","volume":"14","author":"K\u00f6hler","year":"2018","journal-title":"Nat. Rev. Neurol."},{"issue":"1","key":"10.1016\/j.jns.2025.123605_bb0200","doi-asserted-by":"crossref","first-page":"3231","DOI":"10.1038\/s41598-021-82778-0","article-title":"Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants","volume":"11","author":"Mahdieh","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.jns.2025.123605_bb0205","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.pediatrneurol.2023.12.027","article-title":"Etiologic spectrum of pediatric-onset Leukodystrophies and genetic leukoencephalopathies: the five-year experience of a tertiary Care Center in Southern India","volume":"152","author":"Nair","year":"2024","journal-title":"Pediatr. Neurol."},{"issue":"3","key":"10.1016\/j.jns.2025.123605_bb0210","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a038968","article-title":"Genetic counseling and the central tenets of practice","volume":"10","author":"Biesecker","year":"2020","journal-title":"Cold Spring Harb. Perspect. Med."},{"issue":"6","key":"10.1016\/j.jns.2025.123605_bb0215","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s10897-007-9113-4","article-title":"Coming full circle: a reciprocal-engagement model of genetic counseling practice","volume":"16","author":"Veach","year":"2007","journal-title":"J. Genet. Couns."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X25002229?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X25002229?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:54:08Z","timestamp":1756281248000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X25002229"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":43,"alternative-id":["S0022510X25002229"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2025.123605","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuroimaging patterns in patients with mitochondrial leukoencephalopathies","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2025.123605","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"123605"}}