{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:52:00Z","timestamp":1789451520462,"version":"build-2803163510"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2009,5,15]],"date-time":"2009-05-15T00:00:00Z","timestamp":1242345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0"},{"start":{"date-parts":[[2009,5,15]],"date-time":"2009-05-15T00:00:00Z","timestamp":1242345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2009,10]]},"DOI":"10.1007\/s00415-009-5163-x","type":"journal-article","created":{"date-parts":[[2009,5,14]],"date-time":"2009-05-14T14:51:57Z","timestamp":1242312717000},"page":"1620-1628","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies"],"prefix":"10.1007","volume":"256","author":[{"given":"Anna","family":"Ladogana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascual","family":"Sanchez-Juan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Mitrov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natividad","family":"Cuadrado-Corrales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"S\u00e1nchez-Valle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Koscova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Aguzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodoros","family":"Sklaviadis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerzy","family":"Kulczycki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Gawinecka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Saiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Calero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia M.","family":"van Duijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Pocchiari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Zerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,5,15]]},"reference":[{"key":"5163_CR1","unstructured":"Bahl JM, Heegaard NH, Falkenhorst G, Laursen H, Hogenhaven H, Molbak K, Jespersgaard C, Hougs L, Waldemar G, Johannsen P, Christiansen M (2008) The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer\u2019s disease. Neurobiol Aging. doi:101016\/j.neurobiolaging.2008.01.013"},{"key":"5163_CR2","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/1471-2377-6-35","volume":"6","author":"C Boesenberg-Grosse","year":"2006","unstructured":"Boesenberg-Grosse C, Schulz-Schaeffer WJ, Bodemer M, Ciesielczyk B, Kretzschmar HA, Green AJ, Zerr I (2006) Brain-derived proteins in the CSF, do they correlate with brain pathology in CJD? BMC Neurol 6:35. doi:10.1186\/1471-2377-6-35","journal-title":"BMC Neurol"},{"key":"5163_CR3","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1212\/01.WNL.0000152837.82388.DE","volume":"64","author":"S Capellari","year":"2005","unstructured":"Capellari S, Cardone F, Notari S, Schinin\u00e0 ME, Maras B, Sit\u00e0 D, Baruzzi A, Pocchiari M, Parchi P (2005) Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. Neurology 64:905\u2013907","journal-title":"Neurology"},{"key":"5163_CR4","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1007\/s100720070119","volume":"21","author":"ML Cataldi","year":"2000","unstructured":"Cataldi ML, Restivo O, Reggio E, Restivo DA, Reggio A (2000) Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease. Neurol Sci 21:53\u201355. doi:10.1007\/s100720070119","journal-title":"Neurol Sci"},{"key":"5163_CR5","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1001\/archneur.57.7.1058","volume":"57","author":"S Collins","year":"2000","unstructured":"Collins S, Boyd A, Fletcher A, Byron K, Harper C, McLean CA, Masters CL (2000) Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease. Arch Neurol 57:1058\u20131063. doi:10.1001\/archneur.57.7.1058","journal-title":"Arch Neurol"},{"key":"5163_CR6","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/1471-2377-6-25","volume":"6","author":"N Cuadrado-Corrales","year":"2006","unstructured":"Cuadrado-Corrales N, Jim\u00e9nez-Huete A, Albo C, Hortiguela R, Vega L, Cerrato L, Sierra-Moros M, R\u00e1bano A, de Pedro-Cuesta J, Calero M (2006) Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD. BMC Neurol 6:25. doi:10.1186\/1471-2377-6-25","journal-title":"BMC Neurol"},{"key":"5163_CR7","doi-asserted-by":"publisher","first-page":"932","DOI":"10.1590\/S0004-282X2001000600017","volume":"59","author":"N Huang","year":"2001","unstructured":"Huang N, Marie SK, Kok F, Nitrini R (2001) Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. Arq Neuropsiquiatr 59:932\u2013935. doi:10.1590\/S0004-282X2001000600017","journal-title":"Arq Neuropsiquiatr"},{"key":"5163_CR8","first-page":"920","volume":"38","author":"Y Imaiso","year":"1998","unstructured":"Imaiso Y, Mitsuo K (1998) Gerstmann-Str\u00e4ussler-Scheinker syndrome with a Pro102Leu mutation in the prion protein gene and atypical MRI findings, hyperthermia, tachycardia, and hyperhidrosis. Rinsho Shinkeigaku 38:920\u2013925","journal-title":"Rinsho Shinkeigaku"},{"key":"5163_CR9","first-page":"800","volume":"39","author":"Y Iwaski","year":"1999","unstructured":"Iwaski Y, Sone M, Kato T, Yoshida E, Indo T, Yoshida M, Hashizume Y, Yamada M (1999) Clinicopathological characteristics of Creutzfeldt-Jakob disease with a PrP V180I mutation and M129V polymorphism on different alleles. Rinsho Shinkeigaku 39:800\u2013806","journal-title":"Rinsho Shinkeigaku"},{"key":"5163_CR10","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1186\/1471-2334-6-169","volume":"6","author":"K Kotta","year":"2006","unstructured":"Kotta K, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T (2006) Novel mutation of the PRNP gene of a clinical CJD case. BMC Infect Dis 6:169. doi:10.1186\/1471-2334-6-169","journal-title":"BMC Infect Dis"},{"key":"5163_CR11","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1007\/s00439-005-0020-1","volume":"118","author":"GG Kovacs","year":"2005","unstructured":"Kovacs GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, Van Duijn C, Collins S, Boyd A, Guilivi A, Coulthart M, Delasnerie-Laupretre N, Brandel JP, Zerr I, Kretzschmar H, de Pedro-Cuesta J, Calero-Lara M, Glatzel M, Aguzzi A, Bishop M, Knight R, Belay G, Will R, Mitrova E (2005) Genetic prion disease: the EUROCJD experience. Hum Genet 118:166\u2013174. doi:10.1007\/s00439-005-0020-1","journal-title":"Hum Genet"},{"key":"5163_CR12","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1007\/s00415-002-0896-9","volume":"249","author":"GG Kov\u00e1cs","year":"2002","unstructured":"Kov\u00e1cs GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H (2002) Mutations of the prion protein gene. Phenotypic spectrum. J Neurol 249:1567\u20131582. doi:10.1007\/s00415-002-0896-9","journal-title":"J Neurol"},{"key":"5163_CR13","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s10048-004-0208-x","volume":"6","author":"B Krebs","year":"2005","unstructured":"Krebs B, Lederer R-M, Windl O, Grasbon-Frodl E-M, Zerr I, Kretzschmar HA (2005) Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene. Neurogenetics 6:97\u2013100. doi:10.1007\/s10048-004-0208-x","journal-title":"Neurogenetics"},{"key":"5163_CR14","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1002\/ajmg.1511","volume":"103","author":"A Ladogana","year":"2001","unstructured":"Ladogana A, Almonti S, Petraroli R, Giaccaglini E, Ciarmatori C, Liu QG, Bevivino S, Squitieri F, Pocchiari M (2001) Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. Am J Med Genet 103:133\u2013137. doi:10.1002\/ajmg.1511","journal-title":"Am J Med Genet"},{"key":"5163_CR15","doi-asserted-by":"publisher","first-page":"1592","DOI":"10.1212\/01.WNL.0000160118.26865.11","volume":"64","author":"A Ladogana","year":"2005","unstructured":"Ladogana A, Puopolo M, Poleggi A, Almonti S, Mellina V, Equestre M, Pocchiari M (2005) High incidence of genetic human transmissible spongiform encephalopathies in Italy. Neurology 64:1592\u20131597. doi:10.1212\/01.WNL.0000160118.26865.11","journal-title":"Neurology"},{"key":"5163_CR16","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1212\/WNL.58.2.192","volume":"58","author":"M Otto","year":"2002","unstructured":"Otto M, Wiltfang J, Cepek L, Neumann M, Mollenhauer B, Steinacker P, Ciesielczyk B, Schulz-Schaeffer W, Kretzschmar HA, Poser S (2002) Tau protein and 14-3-3 protein in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 58:192\u2013197","journal-title":"Neurology"},{"key":"5163_CR17","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1007\/s00401-004-0978-0","volume":"109","author":"S Roeber","year":"2005","unstructured":"Roeber S, Krebs B, Neumann M, Windl O, Zerr I, Grasbon-Frodl EM, Kretzschmar HA (2005) Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. Acta Neuropathol 109:443\u2013448. doi:10.1007\/s00401-004-0978-0","journal-title":"Acta Neuropathol"},{"key":"5163_CR18","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1212\/WNL.53.6.1328","volume":"53","author":"H Rosenmann","year":"1999","unstructured":"Rosenmann H, Kahana E, Korczyn AD, Kahana I, Chapman J, Gabizon R (1999) Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease. Neurology 53:1328\u20131329","journal-title":"Neurology"},{"key":"5163_CR19","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1111\/j.1600-0404.1998.tb00634.x","volume":"97","author":"H Rosenmann","year":"1998","unstructured":"Rosenmann H, Vardi J, Finkelstein Y, Chapman J, Gabizon R (1998) Identification in Israel of 2 Jewish Creutzfeldt-Jakob disease patients with a 178 mutation at their PrP gene. Acta Neurol Scand 97:184\u2013187","journal-title":"Acta Neurol Scand"},{"key":"5163_CR20","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1212\/01.wnl.0000230159.67128.00","volume":"67","author":"P Sanchez-Juan","year":"2006","unstructured":"Sanchez-Juan P, Green A, Ladogana A, Cuadrado-Corrales N, Sanchez-Valle R, Mitrova E, Stoeck K, Sklaviadis T, Kulczycki J, Hess K, Bodemer M, Slivarichova D, Saiz A, Calero M, Ingrosso L, Knight R, Janssens C, Van Duijn C, Zerr I (2006) CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 67:637\u2013643. doi:10.1212\/01.wnl.0000230159.67128.00","journal-title":"Neurology"},{"key":"5163_CR21","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1007\/s00415-006-0472-9","volume":"254","author":"P Sanchez-Juan","year":"2007","unstructured":"Sanchez-Juan P, Sanchez-Valle R, Green A, Ladogana A, Cuadrado-Corrales N, Mitrova E, Stoeck K, Sklaviadis T, Kulczycki J, Hess K, Krasnianski A, Equestre M, Slivarichova D, Saiz A, Calero M, Pocchiari M, Knight R, van Dujin CM, Zerr I (2007) Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis. J Neurol 254:901\u2013906. doi:10.1007\/s00415-006-0472-9","journal-title":"J Neurol"},{"issue":"7","key":"5163_CR22","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1136\/jnnp.2007.137463","volume":"79","author":"R Sanchez-Valle","year":"2008","unstructured":"Sanchez-Valle R, Ar\u00f3stegui JI, Jague J, Rami R, Llad\u00f3 A, Molinuevo JL (2008) First demonstrated de novo insertion in the prion protein gene in a young patient with dementia. J Neurol Neurosurg Psychiatry 79(7):845\u2013846","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"5163_CR23","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1111\/j.1468-1331.2004.00967.x","volume":"11","author":"R Sanchez-Valle","year":"2004","unstructured":"Sanchez-Valle R, Nos C, Yague J, Graus F, Dominguez A, Saiz A (2004) Clinical and genetic features of human prion diseases in Catalonia: 1993\u20132002. Eur J Neurol 11:649\u2013655. doi:10.1111\/j.1468-1331.2004.00967.x","journal-title":"Eur J Neurol"},{"key":"5163_CR24","doi-asserted-by":"publisher","first-page":"2094","DOI":"10.1001\/jama.289.16.2094","volume":"289","author":"T Sunderland","year":"2003","unstructured":"Sunderland T, Linker G, Mirza N, Putnam KT, Friedman DL, Kimmel LH, Bergeson J, Manetti GJ, Zimmermann M, Tang B, Bartko JJ, Cohen RM (2003) Decreased \u00df-amyloid 1\u201342 and increased tau levels in cerebrospinal fluid of patients with Alzheimer disease. JAMA 289:2094\u20132103. doi:10.1001\/jama.289.16.2094","journal-title":"JAMA"},{"key":"5163_CR25","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1055\/s-2002-20148","volume":"127","author":"H Tumani","year":"2002","unstructured":"Tumani H, Windl O, Kretzschmar HA, Ludolph AC (2002) Clinically atypical CJD: diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis? Dtsch Med Wochenschr 127:318\u2013320. doi:10.1055\/s-2002-20148","journal-title":"Dtsch Med Wochenschr"},{"key":"5163_CR26","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.clineuro.2004.12.002","volume":"107","author":"B Van Everbroeck","year":"2005","unstructured":"Van Everbroeck B, Boons J, Cras P (2005) Cerebrospinal fluid biomarkers in Creutzfeldt-Jakob disease. Clin Neurol Neurosurg 107:355\u2013360. doi:10.1016\/j.clineuro.2004.12.002","journal-title":"Clin Neurol Neurosurg"},{"key":"5163_CR27","doi-asserted-by":"publisher","first-page":"1210","DOI":"10.1136\/jnnp.74.9.1210","volume":"74","author":"B Van Everbroeck","year":"2003","unstructured":"Van Everbroeck B, Quoilin S, Boons J, Martin JJ, Cras P (2003) A prospective study of CSF markers in 250 patients with possible Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry 74:1210\u20131214. doi:10.1136\/jnnp.74.9.1210","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"5163_CR28","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1046\/j.1365-2990.1998.00098.x","volume":"24","author":"C Vital","year":"1998","unstructured":"Vital C, Gray F, Vital A, Parchi P, Capellari S, Petersen RB, Ferrer X, Jarnier D, Julien J, Gambetti P (1998) Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits. Neuropathol Appl Neurobiol 24:125\u2013130. doi:10.1046\/j.1365-2990.1998.00098.x","journal-title":"Neuropathol Appl Neurobiol"},{"key":"5163_CR29","doi-asserted-by":"publisher","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, Fernandez-Manchola I, Fernandez-Martinez M, Fernandez-Maiztegui C, Forcadas I, Galdos L, Gomez-Esteban JC, Ibanez A, Lezcano E, Lopez de Munain A, Marti-Masso JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM (2005) Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry 76:1491\u20131496. doi:10.1136\/jnnp.2004.056606","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"5163_CR30","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1212\/WNL.51.5.1398","volume":"51","author":"I Zerr","year":"1998","unstructured":"Zerr I, Giese A, Windl O, Kropp S, Schulz-Schaeffer W, Riedemann C, Skworc K, Bodemer M, Kretzschmar HA, Poser S (1998) Phenotypic variability in fatal familial insomnia (D178N\u2013129M) genotype. Neurology 51:1398\u20131405","journal-title":"Neurology"},{"key":"5163_CR31","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1212\/WNL.55.6.811","volume":"55","author":"I Zerr","year":"2000","unstructured":"Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro Cuesta J, Knight RSG, Bernheimer H, Cardone F, Delasnerie-Laupr\u00eatre N, Cuadrado Corrales N, Ladogana A, Fletcher A, Bodemer M, Awan T, Ruiz Brem\u00f3n A, Budka H, Laplanche JL, Will RG, Poser S (2000) Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology 55:811\u2013815","journal-title":"Neurology"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-5163-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-009-5163-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-5163-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-5163-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T20:34:42Z","timestamp":1630442082000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-009-5163-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,15]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["5163"],"URL":"https:\/\/doi.org\/10.1007\/s00415-009-5163-x","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,15]]},"assertion":[{"value":"16 December 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 April 2009","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 April 2009","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2009","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}