{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:44:21Z","timestamp":1790419461130,"version":"4.1.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T00:00:00Z","timestamp":1642118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T00:00:00Z","timestamp":1642118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,3]]},"DOI":"10.1007\/s10072-022-05881-8","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T20:45:47Z","timestamp":1642193147000},"page":"2081-2084","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Kearns-Sayre syndrome: expanding spectrum of a \u201cnovel\u201d mitochondrial leukomyeloencephalopathy"],"prefix":"10.1007","volume":"43","author":[{"given":"Marco","family":"Moscatelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ardissone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Lamantea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zorzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Erbetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Chiapparini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,14]]},"reference":[{"key":"5881_CR1","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1212\/WNL.51.6.1525-a","volume":"51","author":"M Zeviani","year":"1998","unstructured":"Zeviani M, Moraes CT, Dimauro S, Nakase H, Bonilla E, Schon EA et al (1998) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 51:1525\u20131533","journal-title":"Neurology"},{"key":"5881_CR2","first-page":"325","volume":"7","author":"S Khambatta","year":"2014","unstructured":"Khambatta S, Nguyen DL, Beckman TJ, Wittich CM (2014) Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med 7:325\u2013332","journal-title":"Int J Gen Med"},{"key":"5881_CR3","doi-asserted-by":"crossref","unstructured":"Van der knaap and Seneca S, Verhelst H, De Meirleir L et al. A new mitochondrial point mutation in the transfer RNALeu gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol 2001; 58:1113.","DOI":"10.1001\/archneur.58.7.1113"},{"key":"5881_CR4","doi-asserted-by":"publisher","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 8:396\u2013413","journal-title":"Mitochondrion"},{"key":"5881_CR5","doi-asserted-by":"publisher","first-page":"245","DOI":"10.4103\/jnrp.jnrp_446_17","volume":"9","author":"J Finsterer","year":"2018","unstructured":"Finsterer J, Zarrouk-Mahjoub S (2018) Involvement of the spinal cord in mitochondrial disorders. J Neurosci Rural Pract 9:245\u20132514","journal-title":"J Neurosci Rural Pract"},{"key":"5881_CR6","doi-asserted-by":"publisher","first-page":"1315","DOI":"10.1007\/s00234-020-02573-y","volume":"62","author":"L Pasquini","year":"2020","unstructured":"Pasquini L, Guarnera A, Rossi-Espagnet MC, Napolitano A et al (2020) Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study. Neuroradiology 62:1315\u20131321","journal-title":"Neuroradiology"},{"issue":"1","key":"5881_CR7","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1186\/s13023-018-0788-4","volume":"13","author":"A Ardissone","year":"2018","unstructured":"Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D (2018) KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. Orphanet J Rare Dis. 13(1):45","journal-title":"Orphanet J Rare Dis."},{"issue":"1","key":"5881_CR8","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1007\/s00415-016-8312-z","volume":"264","author":"A Torraco","year":"2017","unstructured":"Torraco A, Ardissone A, Invernizzi F et al (2017) Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. J Neurol 264(1):102\u2013111","journal-title":"J Neurol"},{"key":"5881_CR9","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/ana.10456","volume":"53","author":"MS van der Knaap","year":"2003","unstructured":"van der Knaap MS, van der Voorn P, Barkhof F et al (2003) A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 53:252\u2013258","journal-title":"Ann Neurol"}],"updated-by":[{"DOI":"10.1007\/s10072-022-05950-y","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T00:00:00Z","timestamp":1644624000000}}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-05881-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-022-05881-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-05881-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,21]],"date-time":"2022-02-21T11:44:51Z","timestamp":1645443891000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-022-05881-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,14]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["5881"],"URL":"https:\/\/doi.org\/10.1007\/s10072-022-05881-8","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,14]]},"assertion":[{"value":"14 December 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 January 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 February 2022","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s10072-022-05950-y","URL":"https:\/\/doi.org\/10.1007\/s10072-022-05950-y","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Patients\u2019 parents granted permissions to publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}