{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:21:16Z","timestamp":1791249676392,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Natural Science Foundation of Jiangsu Basic Research Program","award":["BK20221185"],"award-info":[{"award-number":["BK20221185"]}]},{"name":"2023 Medical Research Project of Jiangsu Provincial Health Commission","award":["K2023029"],"award-info":[{"award-number":["K2023029"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"DOI":"10.1186\/s12883-024-03999-0","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T06:20:03Z","timestamp":1734934803000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A fatal familial insomnia patient initially misdiagnosed as Alzheimer\u2019s disease: a case report"],"prefix":"10.1186","volume":"24","author":[{"given":"Meizhao","family":"Qiao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huimin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Chi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qun","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyang","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingjian","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minjie","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,23]]},"reference":[{"key":"3999_CR1","first-page":"68","volume-title":"Fatal familial insomnia and Agrypnia Excitata: autonomic dysfunctions and pathophysiological implications[J]","author":"L Baldelli","year":"2019","unstructured":"Baldelli L, Provini F. Fatal familial insomnia and Agrypnia Excitata: autonomic dysfunctions and pathophysiological implications[J]. Volume 218. Autonomic Neuroscience: Basic & Clinical; 2019. pp. 68\u201386."},{"issue":"3","key":"3999_CR2","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1111\/j.1750-3639.1998.tb00172.x","volume":"8","author":"P Montagna","year":"1998","unstructured":"Montagna P, Cortelli P, Avoni P, et al. Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene[J]. Brain Pathol. 1998;8(3):515\u201320.","journal-title":"Brain Pathol"},{"issue":"16","key":"3999_CR3","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1056\/NEJM198610163151605","volume":"315","author":"E Lugaresi","year":"1986","unstructured":"Lugaresi E, Medori R, Montagna P, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei[J]. N Engl J Med. 1986;315(16):997\u20131003.","journal-title":"N Engl J Med"},{"key":"3999_CR4","doi-asserted-by":"publisher","first-page":"101782","DOI":"10.1016\/j.arr.2022.101782","volume":"83","author":"T Koren","year":"2023","unstructured":"Koren T, Fisher E, Webster L, et al. Prevalence of sleep disturbances in people with dementia living in the community: a systematic review and meta-analysis[J]. Ageing Res Rev. 2023;83:101782.","journal-title":"Ageing Res Rev"},{"key":"3999_CR5","doi-asserted-by":"crossref","unstructured":"Wu L, Zhan S, Huang Z et al. Expert Consensus on Clinical Diagnostic Criteria for fatal familial Insomnia[J]. Chin Med J, 2018, 131(13).","DOI":"10.4103\/0366-6999.235115"},{"issue":"Pt 5","key":"3999_CR6","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1093\/brain\/awm063","volume":"130","author":"U Heinemann","year":"2007","unstructured":"Heinemann U, Krasnianski A, Meissner B, et al. Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance[J]. Brain. 2007;130(Pt 5):1350\u20139.","journal-title":"Brain"},{"key":"3999_CR7","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1186\/1743-422X-8-559","volume":"8","author":"M Imran","year":"2011","unstructured":"Imran M, Mahmood S. An overview of human prion diseases[J]. Virol J. 2011;8:559.","journal-title":"Virol J"},{"issue":"7","key":"3999_CR8","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1056\/NEJM199202133260704","volume":"326","author":"R Medori","year":"1992","unstructured":"Medori R, Tritschler HJ, LeBlanc A, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene[J]. N Engl J Med. 1992;326(7):444\u20139.","journal-title":"N Engl J Med"},{"issue":"4","key":"3999_CR9","first-page":"471","volume":"25","author":"Q Shi","year":"2012","unstructured":"Shi Q, Chen C, Gao C, et al. Clinical and familial characteristics of ten Chinese patients with fatal family insomnia[J]. Biomed Environ Sci: BES. 2012;25(4):471\u20135.","journal-title":"Biomed Environ Sci: BES"},{"key":"3999_CR10","doi-asserted-by":"publisher","first-page":"852215","DOI":"10.3389\/fimmu.2022.852215","volume":"13","author":"N Madetko","year":"2022","unstructured":"Madetko N, Marzec W, Kowalska A, et al. Anti-IgLON5 disease - the current state of knowledge and further Perspectives[J]. Front Immunol. 2022;13:852215.","journal-title":"Front Immunol"},{"key":"3999_CR11","doi-asserted-by":"crossref","unstructured":"Xie L, Kang H, Xu Q, et al. Sleep drives metabolite clearance from the adult brain[J]. Volume 342. Science; 2013. pp. 373\u20137. (New York, N.Y.). 6156.","DOI":"10.1126\/science.1241224"},{"issue":"11","key":"3999_CR12","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1590\/0004-282x20190149","volume":"77","author":"CR Borges","year":"2019","unstructured":"Borges CR, Poyares D, Piovezan R, et al. Alzheimer\u2019s disease and sleep disturbances: a review[J]. Arq Neuropsiquiatr. 2019;77(11):815\u201324.","journal-title":"Arq Neuropsiquiatr"},{"issue":"1","key":"3999_CR13","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/nrn.2015.1","volume":"17","author":"Y Wang","year":"2016","unstructured":"Wang Y, Mandelkow E. Tau in physiology and pathology[J]. Nat Rev Neurosci. 2016;17(1):5\u201321.","journal-title":"Nat Rev Neurosci"},{"key":"3999_CR14","doi-asserted-by":"crossref","unstructured":"Lehmann S, Paquet C, Malaplate-Armand C et al. Diagnosis associated with Tau higher than 1200 pg\/mL: Insights from the clinical and laboratory practice[J]. Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019, 495: 451\u2013456.","DOI":"10.1016\/j.cca.2019.04.081"},{"issue":"3","key":"3999_CR15","doi-asserted-by":"publisher","first-page":"905","DOI":"10.3233\/JAD-151111","volume":"51","author":"L Grangeon","year":"2016","unstructured":"Grangeon L, Paquet C, Bombois S, et al. Differential diagnosis of dementia with high levels of Cerebrospinal Fluid tau Protein[J]. J Alzheimer\u2019s Disease: JAD. 2016;51(3):905\u201313.","journal-title":"J Alzheimer\u2019s Disease: JAD"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-024-03999-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-024-03999-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-024-03999-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T07:04:29Z","timestamp":1734937469000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-024-03999-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,23]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3999"],"URL":"https:\/\/doi.org\/10.1186\/s12883-024-03999-0","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,23]]},"assertion":[{"value":"4 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 December 2024","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 report has been approved by the Research Ethics Committee of the Affiliated Brain Hospital of Nanjing Medical University reference No. 2024-KY120\u201301(F). Our study is in accordance with the Declaration of Helsinki and CARE guidelines. Written informed consent was obtained from the patient and his family for genetic analysis and publication of this case report.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the individual and his family, who signed the the power of attorney, for the publication of any potentially identifiable images or data included in this article.","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":"Competing interests"}}],"article-number":"489"}}