{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:32:48Z","timestamp":1790353968815,"version":"4.1.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"team project of natural science foundation of Guangdong Province","award":["2014A030312001"],"award-info":[{"award-number":["2014A030312001"]}]},{"DOI":"10.13039\/501100001809","name":"national natural science foundation of China","doi-asserted-by":"publisher","award":["81471218"],"award-info":[{"award-number":["81471218"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012245","name":"science and technology planning project of Guangdong Province","doi-asserted-by":"crossref","award":["2013B051000037"],"award-info":[{"award-number":["2013B051000037"]}],"id":[{"id":"10.13039\/501100012245","id-type":"DOI","asserted-by":"crossref"}]},{"name":"science and technology planning project of Guangdon Province","award":["2014A050503035"],"award-info":[{"award-number":["2014A050503035"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12883-017-0886-2","type":"journal-article","created":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T13:51:53Z","timestamp":1495806713000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review"],"prefix":"10.1186","volume":"17","author":[{"given":"Tingting","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhang","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisheng","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobo","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengqi","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,5,26]]},"reference":[{"issue":"3","key":"886_CR1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S1474-4422(03)00323-5","volume":"2","author":"P Montagna","year":"2003","unstructured":"Montagna P, Gambetti P, Cortelli P, Lugaresi E. Familial and sporadic fatal insomnia. Lancet Neurol. 2003;2(3):167\u201376.","journal-title":"Lancet Neurol"},{"issue":"16","key":"886_CR2","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1056\/NEJM198610163151605","volume":"315","author":"E Lugaresi","year":"1986","unstructured":"Lugaresi E, Medori R, Montagna P, Baruzzi A, Cortelli P, Lugaresi A, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med. 1986;315(16):997\u20131003.","journal-title":"N Engl J Med"},{"issue":"1","key":"886_CR3","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jocn.2014.05.040","volume":"22","author":"S Chen","year":"2015","unstructured":"Chen S, Guan M, Shang JK, He S, Zhang ML, Ma MM, et al. Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study. J Clin Neurosci. 2015;22(1):204\u20136.","journal-title":"J Clin Neurosci"},{"issue":"9","key":"886_CR4","first-page":"1913","volume":"52","author":"SA Oberstein","year":"1999","unstructured":"Oberstein SA, Ferrari MD, Bakker E, van Gestel J, Kneppers AL, Frants RR, et al. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group Neurology. 1999;52(9):1913\u20135.","journal-title":"Dutch CADASIL Research Group Neurology"},{"issue":"5","key":"886_CR5","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.smrv.2005.02.001","volume":"9","author":"P Montagna","year":"2005","unstructured":"Montagna P. Fatal familial insomnia: a model disease in sleep physiopathology. Sleep Med Rev. 2005;9(5):339\u201353.","journal-title":"Sleep Med Rev"},{"issue":"Pt 3","key":"886_CR6","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1093\/brain\/awl003","volume":"129","author":"P Cortelli","year":"2006","unstructured":"Cortelli P, Perani D, Montagna P, Gallassi R, Tinuper P, Provini F, et al. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies. Brain. 2006;129(Pt 3):668\u201375.","journal-title":"Brain"},{"issue":"1","key":"886_CR7","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s00401-010-0760-4","volume":"121","author":"S Capellari","year":"2011","unstructured":"Capellari S, Strammiello R, Saverioni D, Kretzschmar H, Parchi P. Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. Acta Neuropathol. 2011;121(1):21\u201337.","journal-title":"Acta Neuropathol"},{"issue":"12","key":"886_CR8","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1212\/WNL.43.12.2565","volume":"43","author":"D Perani","year":"1993","unstructured":"Perani D, Cortelli P, Lucignani G, Montagna P, Tinuper P, Gallassi R, et al. [18F]FDG PET in fatal familial insomnia: the functional effects of thalamic lesions. Neurology. 1993;43(12):2565\u20139.","journal-title":"Neurology"},{"issue":"11","key":"886_CR9","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1136\/jnnp.2004.056606","volume":"76","author":"JJ Zarranz","year":"2005","unstructured":"Zarranz JJ, Digon A, Atares B, Rodriguez-Martinez AB, Arce A, Carrera N, et al. Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry. 2005;76(11):1491\u20136.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"886_CR10","doi-asserted-by":"publisher","unstructured":"Schmitz M, Dittmar K, Llorens F, Gelpi E, Ferrer I, Schulz-Schaeffer WJ, et al. Hereditary Human Prion Diseases: an Update. Mol Neurobiol. 2016.\u00a0doi:\n10.1007\/s12035-016-9918-y\n\n.","DOI":"10.1007\/s12035-016-9918-y"},{"issue":"2","key":"886_CR11","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1073\/pnas.93.2.744","volume":"93","author":"B Ghetti","year":"1996","unstructured":"Ghetti B, Piccardo P, Spillantini MG, Ichimiya Y, Porro M, Perini F, et al. Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci U S A. 1996;93(2):744\u20138.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"886_CR12","first-page":"471","volume":"25","author":"Q Shi","year":"2012","unstructured":"Shi Q, Chen C, Gao C, Tian C, Zhou W, Zhang B, et al. Clinical and familial characteristics of ten chinese patients with fatal family insomnia. Biomed Environ Sci. 2012;25(4):471\u20135.","journal-title":"Biomed Environ Sci"},{"key":"886_CR13","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.clineuro.2016.09.006","volume":"150","author":"A Annus","year":"2016","unstructured":"Annus A, Csati A, Vecsei L. Prion diseases: new considerations. Clin Neurol Neurosurg. 2016;150:125\u201332.","journal-title":"Clin Neurol Neurosurg"},{"issue":"8","key":"886_CR14","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1016\/j.jocn.2011.11.023","volume":"19","author":"JJ Luo","year":"2012","unstructured":"Luo JJ, Truant AL, Kong Q, Zou WQ. Sporadic fatal insomnia with clinical, laboratory, and genetic findings. J Clin Neurosci. 2012;19(8):1188\u201392.","journal-title":"J Clin Neurosci"},{"issue":"3","key":"886_CR15","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00062-013-0243-9","volume":"24","author":"T Frobose","year":"2014","unstructured":"Frobose T, Forstl H, Forschler A. Fatal familial insomnia (FFI) complicated by posterior reversible encephalopathy syndrome (PRES). Clin Neuroradiol. 2014;24(3):289\u201391.","journal-title":"Clin Neuroradiol"},{"issue":"2","key":"886_CR16","doi-asserted-by":"crossref","first-page":"e0118163","DOI":"10.1371\/journal.pone.0118163","volume":"10","author":"JS Lee","year":"2015","unstructured":"Lee JS, Kang CH, Park SQ, Choi HA, Sim KB. Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation. PLoS One. 2015;10(2):e0118163.","journal-title":"PLoS One"},{"issue":"1","key":"886_CR17","doi-asserted-by":"crossref","first-page":"e0146040","DOI":"10.1371\/journal.pone.0146040","volume":"11","author":"D Lal","year":"2016","unstructured":"Lal D, Neubauer BA, Toliat MR, Altmuller J, Thiele H, Nurnberg P, et al. Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing. PLoS One. 2016;11(1):e0146040.","journal-title":"PLoS One"},{"issue":"5","key":"886_CR18","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1111\/bjd.13473","volume":"172","author":"T Takeichi","year":"2015","unstructured":"Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, et al. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family. Br J Dermatol. 2015;172(5):1407\u201311.","journal-title":"Br J Dermatol"},{"issue":"4","key":"886_CR19","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1111\/cge.12816","volume":"90","author":"LM Reis","year":"2016","unstructured":"Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, et al. Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clin Genet. 2016;90(4):378\u201382.","journal-title":"Clin Genet"},{"issue":"1","key":"886_CR20","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s12881-016-0346-7","volume":"17","author":"A Fadda","year":"2016","unstructured":"Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, et al. Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. BMC Med Genet. 2016;17(1):84.","journal-title":"BMC Med Genet"},{"issue":"16","key":"886_CR21","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","volume":"369","author":"Y Yang","year":"2013","unstructured":"Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16):1502\u201311.","journal-title":"N Engl J Med"},{"key":"886_CR22","doi-asserted-by":"publisher","unstructured":"Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, et al. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. Clin Genet. 2017.\u00a0doi:\n10.1111\/cge.12987\n\n.","DOI":"10.1111\/cge.12987"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-017-0886-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T22:59:23Z","timestamp":1589756363000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-017-0886-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,26]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["886"],"URL":"https:\/\/doi.org\/10.1186\/s12883-017-0886-2","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,26]]},"article-number":"104"}}