{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T08:22:25Z","timestamp":1783585345321,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,6,2]],"date-time":"2020-06-02T00:00:00Z","timestamp":1591056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Although Labrune syndrome is a well\u2010known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the <jats:italic>SNORD118<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical examination, brain and total\u2010body imaging, and neurophysiological and ophthalmological investigations were performed. Amplification of the <jats:italic>SNORD118<\/jats:italic> gene and Sanger sequencing were integrated to investigate potential causative mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 69\u2010year\u2010old woman, with a long history of episodes of vertigo and gait imbalance, was referred to our hospital for progressive cognitive and motor deterioration. Computed tomography and magnetic resonance imaging disclosed diffuse bilateral leukoencephalopathy in periventricular and deep white matter, widespread calcifications and numerous cysts in the brain, liver, pancreas and kidneys. The genetic analysis revealed two biallelic variants in the <jats:italic>SNORD118<\/jats:italic> gene, one of which is novel (n.60G&gt;C).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first report of adult\u2010onset Labrune syndrome with an unusual systemic involvement presenting a novel mutation in the <jats:italic>SNORD118<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14313","type":"journal-article","created":{"date-parts":[[2020,5,13]],"date-time":"2020-05-13T12:36:28Z","timestamp":1589373388000},"page":"2329-2332","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Systemic involvement in adult\u2010onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the <i>SNORD118<\/i> gene"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4749-7929","authenticated-orcid":false,"given":"G.","family":"Bonomo","sequence":"first","affiliation":[{"name":"Neurosurgery Unit Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Monfrini","sequence":"additional","affiliation":[{"name":"Neurology Unit Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Neuroscience Section Department of Pathophysiology and Transplantation Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Borellini","sequence":"additional","affiliation":[{"name":"Department of Neuropathophysiology Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6879-2946","authenticated-orcid":false,"given":"R.","family":"Bonomo","sequence":"additional","affiliation":[{"name":"Experimental Neurology Unit School of Medicine and Surgery University of Milano\u2010Bicocca Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Arienti","sequence":"additional","affiliation":[{"name":"Neurology Unit Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Neuroscience Section Department of Pathophysiology and Transplantation Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. C.","family":"Saetti","sequence":"additional","affiliation":[{"name":"Neurology Unit Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Neuroscience Section Department of Pathophysiology and Transplantation Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Di Fonzo","sequence":"additional","affiliation":[{"name":"Neurology Unit Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Neuroscience Section Department of Pathophysiology and Transplantation Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Locatelli","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico University of Milan Milan Italy"},{"name":"Neuroscience Section Department of Pathophysiology and Transplantation Dino Ferrari Center University of Milan Milan Italy"},{"name":"Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.5.1297"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2019.02.008"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3661"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12991"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-319481"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ensci.2017.07.003"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-016-0543-1"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2019.08.006"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.03.008"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1364180"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.14313","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14313","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14313","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:58:06Z","timestamp":1693814286000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,2]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/ene.14313"],"URL":"https:\/\/doi.org\/10.1111\/ene.14313","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,2]]},"assertion":[{"value":"2020-03-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}