{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T22:27:35Z","timestamp":1762900055284,"version":"3.44.0"},"reference-count":18,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T00:00:00Z","timestamp":1603843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.jns.2020.117211","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T18:57:03Z","timestamp":1603997823000},"page":"117211","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5"],"prefix":"10.1016","volume":"419","author":[{"given":"Sjur","family":"Prests\u00e6ter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanette","family":"Koht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Foudil","family":"Lamari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal M.E.","family":"Tallaksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stian Tobias Juel","family":"Hoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magnus Dehli","family":"Vigeland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaja Kristine","family":"Selmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siri Lynne","family":"Rydning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.jns.2020.117211_bb0005","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1016\/S1474-4422(19)30235-2","article-title":"Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches","volume":"18","author":"Shribman","year":"2019","journal-title":"Lancet Neurol."},{"issue":"12","key":"10.1016\/j.jns.2020.117211_bb0010","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.1093\/brain\/awx273","article-title":"Hereditary spastic paraplegia type 5: Natural history, biomarkers and a randomized controlled trial","volume":"140","author":"Schols","year":"2017","journal-title":"Brain."},{"issue":"4","key":"10.1016\/j.jns.2020.117211_bb0015","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1194\/jlr.M002543","article-title":"Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis","volume":"51","author":"Schule","year":"2010","journal-title":"J. Lipid Res."},{"issue":"1","key":"10.1016\/j.jns.2020.117211_bb0020","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1093\/brain\/awx297","article-title":"Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5","volume":"141","author":"Marelli","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.jns.2020.117211_bb0025","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.omtm.2019.10.011","article-title":"mRNA as a novel treatment strategy for hereditary spastic paraplegia type 5","volume":"15","author":"Hauser","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"issue":"Pt 6","key":"10.1016\/j.jns.2020.117211_bb0030","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1093\/brain\/awp073","article-title":"CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5","volume":"132","author":"Goizet","year":"2009","journal-title":"Brain."},{"issue":"2","key":"10.1016\/j.jns.2020.117211_bb0035","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.ajhg.2007.10.001","article-title":"Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration","volume":"82","author":"Tsaousidou","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"Pt 6","key":"10.1016\/j.jns.2020.117211_bb0040","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/brain\/awp056","article-title":"Prevalence of hereditary ataxia and spastic paraplegia in Southeast Norway: a population-based study","volume":"132","author":"Erichsen","year":"2009","journal-title":"Brain."},{"issue":"5","key":"10.1016\/j.jns.2020.117211_bb0045","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.jns.2020.117211_bb0050","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.jns.2017.10.022","article-title":"SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment","volume":"383","author":"Mignarri","year":"2017","journal-title":"J. Neurol. Sci."},{"issue":"5","key":"10.1016\/j.jns.2020.117211_bb0055","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/ane.12188","article-title":"CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A","volume":"129","author":"Roos","year":"2014","journal-title":"Acta Neurol. Scand."},{"issue":"D1","key":"10.1016\/j.jns.2020.117211_bb0060","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"issue":"10","key":"10.1016\/j.jns.2020.117211_bb0065","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1124\/dmd.111.040352","article-title":"Functional characterization of CYP2B6 allelic variants in demethylation of antimalarial artemether","volume":"39","author":"Honda","year":"2011","journal-title":"Drug Metab. Dispos."},{"issue":"3","key":"10.1016\/j.jns.2020.117211_bb0070","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1097\/01.CCM.0000053643.21751.3B","article-title":"Predictive value of somatosensory evoked potentials for awakening from coma","volume":"31","author":"Robinson","year":"2003","journal-title":"Crit. Care Med."},{"issue":"4","key":"10.1016\/j.jns.2020.117211_bb0075","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.clinph.2010.10.025","article-title":"Electrophysiological characterisation in hereditary spastic paraplegia type 5","volume":"122","author":"Manganelli","year":"2011","journal-title":"Clin. Neurophysiol."},{"issue":"4","key":"10.1016\/j.jns.2020.117211_bb0080","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/acn3.51019","article-title":"Clinical characteristics of Taiwanese patients with hereditary spastic paraplegia type 5","volume":"7","author":"Chou","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"3","key":"10.1016\/j.jns.2020.117211_bb0085","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","article-title":"The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity","volume":"67","author":"Schule","year":"2006","journal-title":"Neurology."},{"key":"10.1016\/j.jns.2020.117211_bb0090","first-page":"531210","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","author":"Karczewski","year":"2019","journal-title":"bioRxiv."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X20305475?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X20305475?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:53:52Z","timestamp":1758383632000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X20305475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":18,"alternative-id":["S0022510X20305475"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2020.117211","relation":{},"ISSN":["0022-510X"],"issn-type":[{"type":"print","value":"0022-510X"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2020.117211","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"117211"}}