{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T02:28:07Z","timestamp":1768444087266,"version":"3.49.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1016\/j.jns.2015.01.008","type":"journal-article","created":{"date-parts":[[2015,1,13]],"date-time":"2015-01-13T20:33:54Z","timestamp":1421181234000},"page":"154-160","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction"],"prefix":"10.1016","volume":"349","author":[{"given":"Agathe","family":"Roubertie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Leboucq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Christine","family":"Picot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Nogue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herv\u00e9","family":"Brunel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Le Bars","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1871-0636","authenticated-orcid":false,"given":"Gael","family":"Manes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Angebault Prouteau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Blanchet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Mondain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugues","family":"Chevassus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Amati-Bonneau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Sarzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Pag\u00e8s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Max","family":"Villain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Meunier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2015.01.008_bb0005","first-page":"1","article-title":"Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families","volume":"164","author":"Kjer","year":"1959","journal-title":"Acta Ophthalmol Suppl"},{"key":"10.1016\/j.jns.2015.01.008_bb0010","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0161-6420(80)35247-0","article-title":"Autosomal dominant optic atrophy. A spectrum of disability","volume":"87","author":"Hoyt","year":"1980","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jns.2015.01.008_bb0015","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/1750-1172-7-46","article-title":"Dominant optic atrophy","volume":"7","author":"Lenaers","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jns.2015.01.008_bb0020","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1007\/s002340050041","article-title":"MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy","volume":"42","author":"Votruba","year":"2000","journal-title":"Neuroradiology"},{"key":"10.1016\/j.jns.2015.01.008_bb0025","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/S0002-9394(02)01929-3","article-title":"A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy","volume":"135","author":"Shimizu","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jns.2015.01.008_bb0030","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1002\/ana.20681","article-title":"OPA1 R445H mutation in optic atrophy associated with sensorineural deafness","volume":"58","author":"Amati-Bonneau","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2015.01.008_bb0035","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.brainres.2009.08.083","volume":"1300","author":"Huang","year":"2009","journal-title":"Brain Res."},{"key":"10.1016\/j.jns.2015.01.008_bb0040","doi-asserted-by":"crossref","first-page":"e236","DOI":"10.1093\/brain\/aws340","article-title":"Sensorineural hearing loss in OPA1-linked disorders","volume":"136","author":"Leruez","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.jns.2015.01.008_bb0045","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajo.2004.06.011","article-title":"Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1","volume":"138","author":"Payne","year":"2004","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jns.2015.01.008_bb0050","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1093\/brain\/awm298","article-title":"OPA1 mutations induce mitochondrial DNA instability and optic atrophy \u201cplus\u201d phenotypes","volume":"131","author":"Amati-Bonneau","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.jns.2015.01.008_bb0055","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/brain\/awm272","article-title":"Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance","volume":"131","author":"Hudson","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.jns.2015.01.008_bb0060","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1093\/brain\/awq007","article-title":"Multi-system neurological disease is common in patients with OPA1 mutations","volume":"133","author":"Yu-Wai-Man","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.jns.2015.01.008_bb0065","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.mito.2009.03.001","article-title":"Mitochondrial disorder with OPA1 mutation lacking optic atrophy","volume":"9","author":"Milone","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jns.2015.01.008_bb0070","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1212\/01.wnl.0000289194.89359.a1","article-title":"Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy","volume":"70","author":"Verny","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2015.01.008_bb0075","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1016\/j.ophtha.2009.12.038","article-title":"The prevalence and natural history of dominant optic atrophy due to OPA1 mutations","volume":"117","author":"Yu-Wai-Man","year":"2010","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jns.2015.01.008_bb0080","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1212\/WNL.0b013e318230a15a","article-title":"Subclinical multisystem neurologic disease in \u201cpure\u201d OPA1 autosomal dominant optic atrophy","volume":"77","author":"Baker","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2015.01.008_bb0085","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1093\/brain\/awu184","article-title":"Early-onset Behr syndrome due to compound heterozygous mutations in OPA1","volume":"137","author":"Bonneau","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.jns.2015.01.008_bb0090","first-page":"1958","article-title":"Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance","volume":"24","author":"Bianchi","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.jns.2015.01.008_bb0095","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1136\/jmedgenet-2013-102256","article-title":"Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype\/phenotype correlations","volume":"51","author":"Bricout","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.jns.2015.01.008_bb0100","doi-asserted-by":"crossref","DOI":"10.1093\/brain\/awr101","article-title":"Spastic paraplegia in \u201cdominant optic atrophy plus\u201d phenotype due to OPA1 mutation","volume":"134","author":"Pretegiani","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.jns.2015.01.008_bb0105","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1016\/j.ophtha.2006.08.046","article-title":"Determinants of normal retinal nerve fiber layer thickness measured by Stratus OCT","volume":"114","author":"Budenz","year":"2007","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jns.2015.01.008_bb0110","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1016\/j.ijporl.2004.05.011","article-title":"Guidelines and recommendations for testing of Cx26 mutations and interpretation of results","volume":"68","author":"Mazzoli","year":"2004","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.jns.2015.01.008_bb0115","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/S0014-5793(02)02985-X","article-title":"The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space","volume":"523","author":"Olichon","year":"2002","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jns.2015.01.008_bb0120","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1056\/NEJMra1215233","article-title":"Mitochondrial dynamics \u2014 mitochondrial fission and fusion in human diseases","volume":"369","author":"Longo","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jns.2015.01.008_bb0125","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.pediatrneurol.2007.12.001","article-title":"Presentation and diagnosis of mitochondrial disorders in children","volume":"38","author":"Koenig","year":"2008","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jns.2015.01.008_bb0130","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.pediatrneurol.2008.07.013","article-title":"Leigh and Leigh-like syndrome in children and adults","volume":"39","author":"Finsterer","year":"2008","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jns.2015.01.008_bb0135","doi-asserted-by":"crossref","first-page":"3599","DOI":"10.1093\/brain\/aws303","article-title":"The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse","volume":"135","author":"Sarzi","year":"2012","journal-title":"Brain"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X1500009X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X1500009X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T05:54:27Z","timestamp":1537941267000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X1500009X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":27,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["S0022510X1500009X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2015.01.008","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2015.01.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}