{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T04:39:59Z","timestamp":1773117599434,"version":"3.50.1"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1007\/s10072-025-08645-2","type":"journal-article","created":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T07:51:40Z","timestamp":1767426700000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical clinical and MRI features in Leber hereditary optic neuropathy: a case series of four patients"],"prefix":"10.1007","volume":"47","author":[{"given":"Giulia","family":"De Napoli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Ferraro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Fiore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Covelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Fabiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"De Stefano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Ulivelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9803-7914","authenticated-orcid":false,"given":"Rosa","family":"Cortese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,2]]},"reference":[{"key":"8645_CR1","doi-asserted-by":"publisher","unstructured":"Morgia CL et al (2024) Recognizing Leber\u2019s hereditary optic neuropathy to avoid delayed diagnosis and misdiagnosis. Front Neurol 15. https:\/\/doi.org\/10.3389\/FNEUR.2024.1466275","DOI":"10.3389\/FNEUR.2024.1466275"},{"key":"8645_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/J.NICL.2022.103240","author":"HT Chow-Wing-Bom","year":"2022","unstructured":"Chow-Wing-Bom HT et al (2022) Neuroimaging in Leber hereditary optic neuropathy: state-of-the-art and future prospects. Neuroimage Clin. https:\/\/doi.org\/10.1016\/J.NICL.2022.103240","journal-title":"Neuroimage Clin"},{"issue":"2","key":"8645_CR3","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1093\/BRAIN\/118.2.319","volume":"118","author":"P Riordan-eva","year":"1995","unstructured":"Riordan-eva P, Sanders MD, Govan GG, Sweeney MG, Costa JD, Harding AE (1995) The clinical features of leber\u2019s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118(2):319\u2013337. https:\/\/doi.org\/10.1093\/BRAIN\/118.2.319","journal-title":"Brain"},{"issue":"no. 7","key":"8645_CR4","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1007\/S004150070153\/METRICS","volume":"247","author":"L Vanopdenbosch","year":"2000","unstructured":"Vanopdenbosch L, Dubois B, D\u2019Hooghe MB, Meire F, Carton H (2000) Mitochondrial mutations of Leber\u2019s hereditary optic neuropathy: a risk factor for multiple sclerosis. J Neurol 247(7):535\u2013543. https:\/\/doi.org\/10.1007\/S004150070153\/METRICS","journal-title":"J Neurol"},{"key":"8645_CR5","doi-asserted-by":"publisher","DOI":"10.1136\/BJO-2023-324628","author":"X Xu","year":"2024","unstructured":"Xu X et al (2024) Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy. Br J Ophthalmol. https:\/\/doi.org\/10.1136\/BJO-2023-324628","journal-title":"Br J Ophthalmol"},{"issue":"4","key":"8645_CR6","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1097\/WNO.0000000000000621","volume":"38","author":"C Blanc","year":"2018","unstructured":"Blanc C, Heran F, Habas C, Bejot Y, Sahel J, Vignal-Clermont C (2018) MRI of the optic nerves and chiasm in patients with leber hereditary optic neuropathy. J Neuroophthalmol 38(4):434\u2013437. https:\/\/doi.org\/10.1097\/WNO.0000000000000621","journal-title":"J Neuroophthalmol"},{"issue":"1","key":"8645_CR7","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1097\/00041327-200303000-00007","volume":"23","author":"F Batio\u01e7lu","year":"2003","unstructured":"Batio\u01e7lu F, Atilla H, Eryilmaz T (2003) Chiasmal high signal on magnetic resonance imaging in the atrophic phase of leber hereditary optic neuropathy. J Neuroophthalmol 23(1):28\u201330. https:\/\/doi.org\/10.1097\/00041327-200303000-00007","journal-title":"J Neuroophthalmol"},{"key":"8645_CR8","unstructured":"Honda H, Tsujihata M, Ochi M, Satoh A, Tomita I, Fujikawa A (2006) Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber\u2019s hereditary optic neuropathy: a case report.\u00a0Japanese. Rinsho Shinkeigaku 46(4):294\u20136\u00a0"},{"issue":"no. 5","key":"8645_CR9","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1136\/JNNP.2009.174953","volume":"81","author":"C Lamirel","year":"2010","unstructured":"Lamirel C et al (2010) Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 81(5):578\u2013580. https:\/\/doi.org\/10.1136\/JNNP.2009.174953","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"8645_CR10","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1080\/01658107.2021.2006239","volume":"46","author":"X Zhang","year":"2021","unstructured":"Zhang X, Meagher S, Han MK (2021) Late-onset leber\u2019s hereditary optic neuropathy with concurrent retinal detachment and retrobulbar visual pathway involvement. Neuroophthalmology 46(4):248\u2013253. https:\/\/doi.org\/10.1080\/01658107.2021.2006239","journal-title":"Neuroophthalmology"},{"issue":"1","key":"8645_CR11","doi-asserted-by":"publisher","first-page":"E153","DOI":"10.1097\/WNO.0000000000001383","volume":"42","author":"J Zhao","year":"2022","unstructured":"Zhao J, Zhang Q, Wang J (2022) Magnetic resonance imaging findings in the pregeniculate visual pathway in leber hereditary optic neuropathy. J Neuroophthalmol 42(1):E153\u2013E158. https:\/\/doi.org\/10.1097\/WNO.0000000000001383","journal-title":"J Neuroophthalmol"},{"key":"8645_CR12","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000209680","author":"D Biotti","year":"2024","unstructured":"Biotti D, Varenne F, Girardie P, Ciron J, Freeman S, Bonneville F (2024) Extensive optic tracts involvement in the acute phase of Leber hereditary optic neuropathy. Neurology. https:\/\/doi.org\/10.1212\/WNL.0000000000209680","journal-title":"Neurology"},{"issue":"no. 4","key":"8645_CR13","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1093\/BRAIN\/115.4.979","volume":"115","author":"AE Harding","year":"1992","unstructured":"Harding AE et al (1992) Occurrence of a multiple sclerosis-like illness in women who have a leber\u2019s hereditary optic neuropathy mitochondrial DNA mutation. Brain 115(4):979\u2013989. https:\/\/doi.org\/10.1093\/BRAIN\/115.4.979","journal-title":"Brain"},{"issue":"1","key":"8645_CR14","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1186\/1750-1172-8-156","volume":"8","author":"S Saleem","year":"2013","unstructured":"Saleem S et al (2013) Fahr\u2019s syndrome: literature review of current evidence. Orphanet J Rare Dis 8(1):156. https:\/\/doi.org\/10.1186\/1750-1172-8-156","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"8645_CR15","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1186\/S12886-018-0980-2","volume":"18","author":"YH Lin","year":"2018","unstructured":"Lin YH, Wang NK, Yeung L, Lai CC, Chuang LH (2018) Juvenile open-angle glaucoma associated with leber\u2019s hereditary optic neuropathy: a case report and literature review. BMC Ophthalmol 18(1):323. https:\/\/doi.org\/10.1186\/S12886-018-0980-2","journal-title":"BMC Ophthalmol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-025-08645-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-025-08645-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-025-08645-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T16:03:57Z","timestamp":1773072237000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-025-08645-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["8645"],"URL":"https:\/\/doi.org\/10.1007\/s10072-025-08645-2","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"27 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study describes a retrospective case series based on data collected during routine clinical practice. No experimental intervention or additional diagnostic\/therapeutic procedure was performed for the purpose of the study. All data were anonymized to ensure patient confidentiality, and the study was conducted in accordance with the Declaration of Helsinki as revised in 2024.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}},{"value":"All four patients provided their informed consent for the disclosure of their cases for scientific and educational purposes.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"All authors state that there is no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"82"}}