{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T18:41:29Z","timestamp":1774464089962,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2014,9,9]],"date-time":"2014-09-09T00:00:00Z","timestamp":1410220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1007\/s00415-014-7481-x","type":"journal-article","created":{"date-parts":[[2014,10,24]],"date-time":"2014-10-24T02:10:32Z","timestamp":1414116632000},"page":"2275-2282","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Costeff syndrome: clinical features and natural history"],"prefix":"10.1007","volume":"261","author":[{"given":"Gilad","family":"Yahalom","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Huna-Baron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Blumkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rakefet","family":"Tsabari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeev","family":"Nitsan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheera F.","family":"Lerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruria","family":"Ben-Zeev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Pode-Shakked","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shira","family":"Sofer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avraham","family":"Schweiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Hassin-Baer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,9,9]]},"reference":[{"key":"7481_CR1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ana.410330117","volume":"33","author":"H Costeff","year":"1993","unstructured":"Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N (1993) 3-Methylglutaconic aciduria in \u201coptic atrophy plus\u201d. Ann Neurol 33:103\u2013104","journal-title":"Ann Neurol"},{"issue":"2","key":"7481_CR2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1469-8749.1994.tb11825.x","volume":"36","author":"ON Elpeleg","year":"1994","unstructured":"Elpeleg ON, Costeff H, Joseph A, Shental Y, Weitz R, Gibson KM (1994) 3-Methylglutaconic aciduria in the Iraqi-Jewish \u2018optic atrophy plus\u2019 (Costeff) syndrome. Dev Med Child Neurol 36(2):167\u2013172","journal-title":"Dev Med Child Neurol"},{"key":"7481_CR3","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1212\/WNL.39.4.595","volume":"39","author":"H Costeff","year":"1989","unstructured":"Costeff H, Gadoth N, Apter N, Prialnic M, Savir H (1989) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39:595\u2013597","journal-title":"Neurology"},{"issue":"6 Pt 1","key":"7481_CR4","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1542\/peds.89.6.1080","volume":"89","author":"A Zeharia","year":"1992","unstructured":"Zeharia A, Elpeleg ON, Mukamel M, Weitz R, Ariel R, Mimouni M (1992) 3-Methylglutaconic aciduria: a new variant. Pediatrics 89(6 Pt 1):1080\u20131082","journal-title":"Pediatrics"},{"issue":"4","key":"7481_CR5","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ajmg.a.30661","volume":"134","author":"IL Gonzalez","year":"2005","unstructured":"Gonzalez IL (2005) Barth syndrome: tAZ gene mutations, mRNAs, and evolution. Am J Med Genet A 134(4):409\u2013414","journal-title":"Am J Med Genet A"},{"key":"7481_CR6","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S0960-9822(06)00237-5","volume":"7","author":"AF Neuwald","year":"1997","unstructured":"Neuwald AF (1997) Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 7:465\u2013466","journal-title":"Curr Biol"},{"issue":"6","key":"7481_CR7","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s10545-012-9580-0","volume":"36","author":"SB Wortmann","year":"2013","unstructured":"Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA (2013) Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis 36(6):923\u2013928","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"7481_CR8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jmg.2005.036657","volume":"43","author":"KM Davey","year":"2006","unstructured":"Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP (2006) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 43(5):385\u2013393","journal-title":"J Med Genet"},{"issue":"3","key":"7481_CR9","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s10545-013-9669-0","volume":"37","author":"B Su","year":"2014","unstructured":"Su B, Ryan RO (2014) Metabolic biology of 3-methylglutaconic acid-uria: a new perspective. J Inherit Metab Dis 37(3):359\u2013368","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"7481_CR10","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/hmg\/6.4.563","volume":"6","author":"A Nystuen","year":"1997","unstructured":"Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonn\u00e9-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC (1997) Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3\u2032 untranslated region of the myotonic dystrophy protein kinase gene. Hum Mol Genet 6(4):563\u2013569","journal-title":"Hum Mol Genet"},{"issue":"6","key":"7481_CR11","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1086\/324651","volume":"69","author":"Y Anikster","year":"2001","unstructured":"Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (2001) Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69(6):1218\u20131224","journal-title":"Am J Hum Genet"},{"issue":"15","key":"7481_CR12","doi-asserted-by":"crossref","first-page":"2587","DOI":"10.1242\/dev.043745","volume":"137","author":"W Pei","year":"2010","unstructured":"Pei W, Kratz LE, Bernardini I, Sood R, Yokogawa T, Dorward H, Ciccone C, Kelley RI, Anikster Y, Burgess HA, Huizing M, Feldman B (2010) A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development 137(15):2587\u20132596","journal-title":"Development"},{"issue":"16","key":"7481_CR13","doi-asserted-by":"crossref","first-page":"2839","DOI":"10.1007\/s00018-010-0365-z","volume":"67","author":"SW Ryu","year":"2010","unstructured":"Ryu SW, Jeong HJ, Choi M, Karbowski M, Choi C (2010) Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. Cell Mol Life Sci 67(16):2839\u20132850","journal-title":"Cell Mol Life Sci"},{"key":"7481_CR14","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1056\/NEJM198301273080401","volume":"308","author":"SL Hauser","year":"1983","unstructured":"Hauser SL, Dawson DM, Lehrich JR, Beal MF, Kevy SV, Propper RD, Mills JA, Weiner HL (1983) Intensive immunosuppression in progressive multiple sclerosis. A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH. N Engl J Med 308:173\u2013180","journal-title":"N Engl J Med"},{"issue":"5\u20136","key":"7481_CR15","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.mito.2008.05.003","volume":"8","author":"RP Saneto","year":"2008","unstructured":"Saneto RP, Friedman SD, Shaw DW (2008) Neuroimaging of mitochondrial disease. Mitochondrion 8(5\u20136):396\u2013413","journal-title":"Mitochondrion"},{"issue":"23","key":"7481_CR16","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1056\/NEJMra1215233","volume":"369","author":"SL Archer","year":"2013","unstructured":"Archer SL (2013) Mitochondrial dynamics\u2014mitochondrial fission and fusion in human diseases. N Engl J Med 369(23):2236\u20132251","journal-title":"N Engl J Med"},{"key":"7481_CR17","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","volume":"26","author":"C Delettre","year":"2000","unstructured":"Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C et al (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207\u2013210","journal-title":"Nat Genet"},{"key":"7481_CR18","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","volume":"36","author":"S Z\u00fcchner","year":"2004","unstructured":"Z\u00fcchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schr\u00f6der JM, Vance JM (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36:449\u2013451","journal-title":"Nat Genet"},{"issue":"5","key":"7481_CR19","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1016\/j.neuron.2008.10.010","volume":"60","author":"MP Mattson","year":"2008","unstructured":"Mattson MP, Gleichmann M, Cheng A (2008) Mitochondria in neuroplasticity and neurological disorders. Neuron 60(5):748\u2013766","journal-title":"Neuron"},{"issue":"3","key":"7481_CR20","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/iub.1126","volume":"65","author":"G Zsurka","year":"2013","unstructured":"Zsurka G, Kunz WS (2013) Mitochondrial involvement in neurodegenerative diseases. IUBMB Life 65(3):263\u2013272","journal-title":"IUBMB Life"},{"issue":"1","key":"7481_CR21","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0387-7604(97)00096-X","volume":"20","author":"H Costeff","year":"1998","unstructured":"Costeff H, Apter N, Elpeleg ON, Prialnic M, B\u00f6hles HJ (1998) Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3. Brain Dev 20(1):33\u201335","journal-title":"Brain Dev"},{"issue":"1","key":"7481_CR22","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ymgme.2011.10.009","volume":"105","author":"GM Enns","year":"2012","unstructured":"Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G (2012) Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab 105(1):91\u2013102","journal-title":"Mol Genet Metab"},{"issue":"3","key":"7481_CR23","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1001\/archneurol.2011.2972","volume":"69","author":"AA Sadun","year":"2012","unstructured":"Sadun AA, Chicani CF, Ross-Cisneros FN, Barboni P, Thoolen M, Shrader WD, Kubis K, Carelli V, Miller G (2012) Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch Neurol 69(3):331\u2013338","journal-title":"Arch Neurol"},{"issue":"3","key":"7481_CR24","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.ymgme.2012.09.007","volume":"107","author":"D Martinelli","year":"2012","unstructured":"Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G (2012) EPI-743 reverses the progression of the pediatric mitochondrial disease\u2014genetically defined Leigh syndrome. Mol Genet Metab 107(3):383\u2013388","journal-title":"Mol Genet Metab"},{"issue":"4","key":"7481_CR25","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/j.ymgme.2012.09.023","volume":"107","author":"FG Blankenberg","year":"2012","unstructured":"Blankenberg FG, Kinsman SL, Cohen BH, Goris ML, Spicer KM, Perlman SL, Krane EJ, Kheifets V, Thoolen M, Miller G, Enns GM (2012) Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Mol Genet Metab 107(4):690\u2013699","journal-title":"Mol Genet Metab"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-014-7481-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-014-7481-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-014-7481-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T15:27:06Z","timestamp":1650468426000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-014-7481-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,9]]},"references-count":25,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["7481"],"URL":"https:\/\/doi.org\/10.1007\/s00415-014-7481-x","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,9]]}}}