{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T12:19:53Z","timestamp":1769257193179,"version":"3.49.0"},"reference-count":71,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T00:00:00Z","timestamp":1765756800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["01ED2407A"],"award-info":[{"award-number":["01ED2407A"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["01ED2407A"],"award-info":[{"award-number":["01ED2407A"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["01ED2407A"],"award-info":[{"award-number":["01ED2407A"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["01ED2407A"],"award-info":[{"award-number":["01ED2407A"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"crossref","award":["Ricerca corrente"],"award-info":[{"award-number":["Ricerca corrente"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["MNESYS (PE0000006)"],"award-info":[{"award-number":["MNESYS (PE0000006)"]}],"id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"DOI":"10.1186\/s40478-025-02168-9","type":"journal-article","created":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T12:41:45Z","timestamp":1765802505000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Distinct cerebrospinal fluid proteomic signatures define clinicopathological subtypes of sporadic Creutzfeldt-Jakob disease and predict patient survival"],"prefix":"10.1186","volume":"14","author":[{"given":"Giuseppe Mario","family":"Bentivenga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Mammana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dea","family":"Gogishvili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Baiardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Vittoriosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Mastrangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agustina","family":"Ranieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel M.","family":"Houtkamp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Brockmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanne","family":"Abeln","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piero","family":"Parchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,12,15]]},"reference":[{"key":"2168_CR1","doi-asserted-by":"publisher","first-page":"3136","DOI":"10.1007\/s00415-019-09537-0","volume":"266","author":"S Abu-Rumeileh","year":"2019","unstructured":"Abu-Rumeileh S, Baiardi S, Polischi B, Mammana A, Franceschini A, Green A et al (2019) Diagnostic value of surrogate CSF biomarkers for Creutzfeldt\u2013Jakob disease in the era of RT-QuIC. J Neurol 266:3136\u20133143. https:\/\/doi.org\/10.1007\/s00415-019-09537-0","journal-title":"J Neurol"},{"key":"2168_CR2","doi-asserted-by":"publisher","first-page":"e95192","DOI":"10.1371\/journal.pone.0095192","volume":"9","author":"E Assarsson","year":"2014","unstructured":"Assarsson E, Lundberg M, Holmquist G, Bj\u00f6rkesten J, Thorsen SB, Ekman D et al (2014) Homogenous 96-plex PEA immunoassay exhibiting high sensitivity, specificity, and excellent scalability. PLoS ONE 9:e95192. https:\/\/doi.org\/10.1371\/journal.pone.0095192","journal-title":"PLoS ONE"},{"key":"2168_CR3","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1186\/s13195-022-01093-6","volume":"14","author":"S Baiardi","year":"2022","unstructured":"Baiardi S, Quadalti C, Mammana A, Dellavalle S, Zenesini C, Sambati L et al (2022) Diagnostic value of plasma p-tau181, NfL, and GFAP in a clinical setting cohort of prevalent neurodegenerative dementias. Alzheimers Res Ther 14:153. https:\/\/doi.org\/10.1186\/s13195-022-01093-6","journal-title":"Alzheimers Res Ther"},{"key":"2168_CR4","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1111\/bpa.12695","volume":"29","author":"S Baiardi","year":"2019","unstructured":"Baiardi S, Rossi M, Capellari S, Parchi P (2019) Recent advances in the histo-molecular pathology of human prion disease. Brain Pathol 29:278\u2013300. https:\/\/doi.org\/10.1111\/bpa.12695","journal-title":"Brain Pathol"},{"key":"2168_CR5","doi-asserted-by":"publisher","first-page":"5009","DOI":"10.1007\/s12035-018-1421-1","volume":"56","author":"A Bartoletti-Stella","year":"2019","unstructured":"Bartoletti-Stella A, Corrado P, Mometto N, Baiardi S, Durrenberger PF, Arzberger T et al (2019) Analysis of RNA expression profiles identifies dysregulated vesicle trafficking pathways in Creutzfeldt-Jakob disease. Mol Neurobiol 56:5009\u20135024. https:\/\/doi.org\/10.1007\/s12035-018-1421-1","journal-title":"Mol Neurobiol"},{"key":"2168_CR6","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1186\/s13195-023-01300-y","volume":"15","author":"GM Bentivenga","year":"2023","unstructured":"Bentivenga GM, Baiardi S, Mastrangelo A, Zenesini C, Mammana A, Polischi B et al (2023) Diagnostic and prognostic value of cerebrospinal fluid SNAP-25 and neurogranin in Creutzfeldt-Jakob disease in a clinical setting cohort of rapidly progressive dementias. Alzheimers Res Ther 15:150. https:\/\/doi.org\/10.1186\/s13195-023-01300-y","journal-title":"Alzheimers Res Ther"},{"key":"2168_CR7","doi-asserted-by":"publisher","unstructured":"Bentivenga GM, Gonzalez-Ortiz F, Baiardi S, Kirsebom B-E, Mastrangelo A, Mammana A et al (2024) Clinical value of novel blood-based tau biomarkers in Creutzfeldt\u2013Jakob disease. Alzheimers Dement 21:e14422. https:\/\/doi.org\/10.1002\/alz.14422","DOI":"10.1002\/alz.14422"},{"key":"2168_CR8","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1007\/s00401-023-02663-0","volume":"147","author":"GM Bentivenga","year":"2024","unstructured":"Bentivenga GM, Mammana A, Baiardi S, Rossi M, Ticca A, Magliocchetti F et al (2024) Performance of a seed amplification assay for misfolded alpha-synuclein in cerebrospinal fluid and brain tissue in relation to Lewy body disease stage and pathology burden. Acta Neuropathol 147:18. https:\/\/doi.org\/10.1007\/s00401-023-02663-0","journal-title":"Acta Neuropathol"},{"key":"2168_CR9","doi-asserted-by":"publisher","first-page":"12005","DOI":"10.1073\/pnas.1004688107","volume":"107","author":"MT Bishop","year":"2010","unstructured":"Bishop MT, Will RG, Manson JC (2010) Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties. Proc Natl Acad Sci U S A 107:12005\u201312010. https:\/\/doi.org\/10.1073\/pnas.1004688107","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2168_CR10","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1002\/ana.25983","volume":"89","author":"A Bizzi","year":"2021","unstructured":"Bizzi A, Pascuzzo R, Blevins J, Moscatelli MEM, Grisoli M, Lodi R et al (2021) Subtype diagnosis of sporadic Creutzfeldt-Jakob disease with diffusion magnetic resonance imaging. Ann Neurol 89:560\u2013572. https:\/\/doi.org\/10.1002\/ana.25983","journal-title":"Ann Neurol"},{"key":"2168_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13195-023-01200-1","volume":"15","author":"C Bridel","year":"2023","unstructured":"Bridel C, van Gils JHM, Miedema SSM, Hoozemans JJM, Pijnenburg YAL, Smit AB et al (2023) Clusters of co-abundant proteins in the brain cortex associated with fronto-temporal lobar degeneration. Alzheimers Res Ther 15:1\u201318. https:\/\/doi.org\/10.1186\/s13195-023-01200-1","journal-title":"Alzheimers Res Ther"},{"key":"2168_CR12","doi-asserted-by":"publisher","first-page":"2643","DOI":"10.1093\/brain\/awp196","volume":"132","author":"I Cali","year":"2009","unstructured":"Cali I, Castellani R, Alshekhlee A, Cohen Y, Blevins J, Yuan J et al (2009) Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics. Brain 132:2643\u20132658. https:\/\/doi.org\/10.1093\/brain\/awp196","journal-title":"Brain"},{"key":"2168_CR13","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/S1474-4422(08)70022-X","volume":"7","author":"S Camargos","year":"2008","unstructured":"Camargos S, Scholz S, Sim\u00f3n-S\u00e1nchez J, Pais\u00e1n-Ruiz C, Lewis P, Hernandez D et al (2008) DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 7:207\u2013215. https:\/\/doi.org\/10.1016\/S1474-4422(08)70022-X","journal-title":"Lancet Neurol"},{"key":"2168_CR14","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1038\/s43587-022-00300-1","volume":"2","author":"M del Campo","year":"2022","unstructured":"del Campo M, Peeters CF, Johnson ECB, Vermunt L, Hok-A-Hin YS, van Nee M et al (2022) CSF proteome profiling reveals protein panels reflecting the pathophysiological diversity of Alzheimer\u2019s disease. Nat Aging 2:1040\u20131053. https:\/\/doi.org\/10.1038\/s43587-022-00300-1","journal-title":"Nat Aging"},{"key":"2168_CR15","doi-asserted-by":"publisher","first-page":"5635","DOI":"10.1038\/s41467-023-41122-y","volume":"14","author":"M del Campo","year":"2023","unstructured":"del Campo M, Vermunt L, Peeters CFW, Sieben A, Hok-A-Hin YS, Lle\u00f3 A et al (2023) CSF proteome profiling reveals biomarkers to discriminate dementia with Lewy bodies from Alzheimer\u00b4s disease. Nat Commun 14:5635. https:\/\/doi.org\/10.1038\/s41467-023-41122-y","journal-title":"Nat Commun"},{"key":"2168_CR16","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.21105\/joss.01317","volume":"4","author":"Davidson-Pilon","year":"2019","unstructured":"Davidson-Pilon (2019) Lifelines: survival analysis in python. J Open Source Softw 4:1317. https:\/\/doi.org\/10.21105\/joss.01317","journal-title":"J Open Source Softw"},{"key":"2168_CR17","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1080\/14789450.2022.2070477","volume":"19","author":"L Dayon","year":"2022","unstructured":"Dayon L, Cominetti O, Affolter M (2022) Proteomics of human biological fluids for biomarker discoveries: technical advances and recent applications. Expert Rev Proteom 19:131\u2013151. https:\/\/doi.org\/10.1080\/14789450.2022.2070477","journal-title":"Expert Rev Proteom"},{"key":"2168_CR18","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1007\/s12035-018-1103-z","volume":"56","author":"J Folke","year":"2019","unstructured":"Folke J, Pakkenberg B, Brudek T (2019) Impaired Wnt signaling in the prefrontal cortex of Alzheimer\u2019s disease. Mol Neurobiol 56:873\u2013891. https:\/\/doi.org\/10.1007\/s12035-018-1103-z","journal-title":"Mol Neurobiol"},{"key":"2168_CR19","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/s00401-010-0761-3","volume":"121","author":"P Gambetti","year":"2011","unstructured":"Gambetti P, Cali I, Notari S, Kong Q, Zou W-Q, Surewicz WK (2011) Molecular biology and pathology of prion strains in sporadic human prion diseases. Acta Neuropathol 121:79\u201390. https:\/\/doi.org\/10.1007\/s00401-010-0761-3","journal-title":"Acta Neuropathol"},{"key":"2168_CR20","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.1016\/j.neurobiolaging.2008.01.007","volume":"30","author":"K Gmitterov\u00e1","year":"2009","unstructured":"Gmitterov\u00e1 K, Heinemann U, Bodemer M, Krasnianski A, Meissner B, Kretzschmar HA et al (2009) 14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes. Neurobiol Aging 30:1842\u20131850. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2008.01.007","journal-title":"Neurobiol Aging"},{"key":"2168_CR21","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1111\/ene.12991","volume":"23","author":"K Gmitterov\u00e1","year":"2016","unstructured":"Gmitterov\u00e1 K, Heinemann U, Krasnianski A, Gawinecka J, Zerr I (2016) Cerebrospinal fluid markers in the differentiation of molecular subtypes of sporadic Creutzfeldt-Jakob disease. Eur J Neurol 23:1126\u20131133. https:\/\/doi.org\/10.1111\/ene.12991","journal-title":"Eur J Neurol"},{"key":"2168_CR22","doi-asserted-by":"publisher","first-page":"6531","DOI":"10.1038\/s41598-023-33045-x","volume":"13","author":"D Gogishvili","year":"2023","unstructured":"Gogishvili D, Vromen EM, Koppes-den Hertog S, Lemstra AW, Pijnenburg YAL, Visser PJ et al (2023) Discovery of novel CSF biomarkers to predict progression in dementia using machine learning. Sci Rep 13:6531. https:\/\/doi.org\/10.1038\/s41598-023-33045-x","journal-title":"Sci Rep"},{"key":"2168_CR23","doi-asserted-by":"publisher","unstructured":"Hagberg AA, Schult DA, Swart PJ (2008) Exploring network structure, dynamics, and function using NetworkX. In: Proceedings of the 7th python in science conference 11\u201315. https:\/\/doi.org\/10.25080\/TCWV9851","DOI":"10.25080\/TCWV9851"},{"key":"2168_CR24","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/s41586-020-2649-2","volume":"585","author":"CR Harris","year":"2020","unstructured":"Harris CR, Millman KJ, van der Walt SJ, Gommers R, Virtanen P, Cournapeau D et al (2020) Array programming with numpy. Nature 585:357\u2013362. https:\/\/doi.org\/10.1038\/s41586-020-2649-2","journal-title":"Nature"},{"key":"2168_CR25","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/S1474-4422(20)30477-4","volume":"20","author":"P Hermann","year":"2021","unstructured":"Hermann P, Appleby B, Brandel J-P, Caughey B, Collins S, Geschwind MD et al (2021) Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol 20:235\u2013246. https:\/\/doi.org\/10.1016\/S1474-4422(20)30477-4","journal-title":"Lancet Neurol"},{"key":"2168_CR26","doi-asserted-by":"publisher","first-page":"e68062","DOI":"10.1371\/journal.pone.0068062","volume":"8","author":"KJ Hilton","year":"2013","unstructured":"Hilton KJ, Cunningham C, Reynolds RA, Perry VH (2013) Early hippocampal synaptic loss precedes neuronal loss and associates with early behavioural deficits in three distinct strains of prion disease. PLoS ONE 8:e68062. https:\/\/doi.org\/10.1371\/journal.pone.0068062","journal-title":"PLoS ONE"},{"key":"2168_CR27","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1109\/MCSE.2007.55","volume":"9","author":"JD Hunter","year":"2007","unstructured":"Hunter JD (2007) Matplotlib: a 2D graphics environment. Comput Sci Eng 9:90\u201395. https:\/\/doi.org\/10.1109\/MCSE.2007.55","journal-title":"Comput Sci Eng"},{"key":"2168_CR28","doi-asserted-by":"publisher","first-page":"e0150672","DOI":"10.1371\/journal.pone.0150672","volume":"11","author":"PE Khoonsari","year":"2016","unstructured":"Khoonsari PE, H\u00e4ggmark A, L\u00f6nnberg M, Mikus M, Kilander L, Lannfelt L et al (2016) Analysis of the cerebrospinal fluid proteome in Alzheimer\u2019s disease. PLoS ONE 11:e0150672. https:\/\/doi.org\/10.1371\/journal.pone.0150672","journal-title":"PLoS ONE"},{"key":"2168_CR29","doi-asserted-by":"publisher","first-page":"106264","DOI":"10.1016\/j.nbd.2023.106264","volume":"185","author":"R Kushwaha","year":"2023","unstructured":"Kushwaha R, Li Y, Makarava N, Pandit NP, Molesworth K, Birukov KG et al (2023) Reactive astrocytes associated with prion disease impair the blood brain barrier. Neurobiol Dis 185:106264. https:\/\/doi.org\/10.1016\/j.nbd.2023.106264","journal-title":"Neurobiol Dis"},{"key":"2168_CR30","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1186\/1471-2105-9-559","volume":"9","author":"P Langfelder","year":"2008","unstructured":"Langfelder P, Horvath S (2008) WGCNA: an R package for weighted correlation network analysis. BMC Bioinform 9:559. https:\/\/doi.org\/10.1186\/1471-2105-9-559","journal-title":"BMC Bioinformatics"},{"key":"2168_CR31","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1007\/s00401-017-1683-0","volume":"133","author":"F Lattanzio","year":"2017","unstructured":"Lattanzio F, Abu-Rumeileh S, Franceschini A, Kai H, Amore G, Poggiolini I et al (2017) Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and A\u03b242 levels. Acta Neuropathol 133:559\u2013578. https:\/\/doi.org\/10.1007\/s00401-017-1683-0","journal-title":"Acta Neuropathol"},{"key":"2168_CR32","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.dadm.2017.07.006","volume":"8","author":"FA de Leeuw","year":"2017","unstructured":"de Leeuw FA, Peeters CFW, Kester MI, Harms AC, Struys EA, Hankemeier T et al (2017) Blood-based metabolic signatures in Alzheimer\u2019s disease. Alzheimers Dement (Amst) 8:196\u2013207. https:\/\/doi.org\/10.1016\/j.dadm.2017.07.006","journal-title":"Alzheimers Dement (Amst)"},{"key":"2168_CR33","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1038\/ng.3168","volume":"47","author":"MDM Leiserson","year":"2015","unstructured":"Leiserson MDM, Vandin F, Wu H-T, Dobson JR, Eldridge JV, Thomas JL et al (2015) Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes. Nat Genet 47:106\u2013114. https:\/\/doi.org\/10.1038\/ng.3168","journal-title":"Nat Genet"},{"key":"2168_CR34","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1093\/jmcb\/mjt053","volume":"6","author":"F L\u2019Episcopo","year":"2014","unstructured":"L\u2019Episcopo F, Tirolo C, Caniglia S, Testa N, Morale MC, Serapide MF et al (2014) Targeting Wnt signaling at the neuroimmune interface for dopaminergic neuroprotection\/repair in Parkinson\u2019s disease. J Mol Cell Biol 6:13\u201326. https:\/\/doi.org\/10.1093\/jmcb\/mjt053","journal-title":"J Mol Cell Biol"},{"key":"2168_CR35","doi-asserted-by":"publisher","first-page":"2196","DOI":"10.3390\/ijms22042196","volume":"22","author":"B Li","year":"2021","unstructured":"Li B, Chen M, Zhu C (2021) Neuroinflammation in prion disease. Int J Mol Sci 22:2196. https:\/\/doi.org\/10.3390\/ijms22042196","journal-title":"Int J Mol Sci"},{"key":"2168_CR36","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1007\/s004010050995","volume":"97","author":"PP Liberski","year":"1999","unstructured":"Liberski PP, Budka H (1999) Neuroaxonal pathology in Creutzfeldt-Jakob disease. Acta Neuropathol 97:329\u2013334. https:\/\/doi.org\/10.1007\/s004010050995","journal-title":"Acta Neuropathol"},{"key":"2168_CR37","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/s42256-019-0138-9","volume":"2","author":"SM Lundberg","year":"2020","unstructured":"Lundberg SM, Erion G, Chen H, DeGrave A, Prutkin JM, Nair B et al (2020) From local explanations to global understanding with explainable AI for trees. Nat Mach Intell 2:56\u201367. https:\/\/doi.org\/10.1038\/s42256-019-0138-9","journal-title":"Nat Mach Intell"},{"key":"2168_CR38","unstructured":"Lundberg SM, Lee S-I (2017) A unified approach to interpreting model predictions. Advances in neural information processing systems. Curran Associates, Inc"},{"key":"2168_CR39","doi-asserted-by":"publisher","first-page":"861","DOI":"10.21105\/joss.00861","volume":"3","author":"L McInnes","year":"2018","unstructured":"McInnes L, Healy J, Melville J (2018) UMAP: uniform manifold approximation and projection. J Open Source Softw 3:861. https:\/\/doi.org\/10.21105\/joss.00861","journal-title":"J Open Source Softw"},{"key":"2168_CR40","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00401-011-0910-3","volume":"123","author":"TJ Montine","year":"2012","unstructured":"Montine TJ, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Dickson DW et al (2012) National Institute on Aging\u2013Alzheimer\u2019s association guidelines for the neuropathologic assessment of Alzheimer\u2019s disease: a practical approach. Acta Neuropathol 123:1\u201311. https:\/\/doi.org\/10.1007\/s00401-011-0910-3","journal-title":"Acta Neuropathol"},{"key":"2168_CR41","doi-asserted-by":"publisher","unstructured":"Nevola K, Sandin M, Guess J, Forsberg S, Cambronero C, Pucholt P et al (2025) OlinkAnalyze: facilitate analysis of proteomic data from Olink. https:\/\/doi.org\/10.32614\/CRAN.package.OlinkAnalyze. https:\/\/cran.r-project.org\/web\/packages\/OlinkAnalyze\/index.html Accessed 27 March 2025","DOI":"10.32614\/CRAN.package.OlinkAnalyze"},{"key":"2168_CR42","unstructured":"Olink\u00ae\u2014Part of Thermo Fisher Scientific https:\/\/olink.com. Accessed 27 Mar 2025"},{"key":"2168_CR43","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1007\/s00401-012-1002-8","volume":"124","author":"P Parchi","year":"2012","unstructured":"Parchi P, de Boni L, Saverioni D, Cohen ML, Ferrer I, Gambetti P et al (2012) Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA. Acta Neuropathol 124:517\u2013529. https:\/\/doi.org\/10.1007\/s00401-012-1002-8","journal-title":"Acta Neuropathol"},{"issue":"2","key":"2168_CR44","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1002\/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W","volume":"46","author":"P Parchi","year":"1999","unstructured":"Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O et al (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46(2):224\u2013233. https:\/\/doi.org\/10.1002\/1531-8249(199908)46:2%3C224::AID-ANA12%3E3.0.CO;2-W","journal-title":"Ann Neurol"},{"key":"2168_CR45","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1007\/s00401-009-0585-1","volume":"118","author":"P Parchi","year":"2009","unstructured":"Parchi P, Strammiello R, Notari S, Giese A, Langeveld JPM, Ladogana A et al (2009) Incidence and spectrum of sporadic Creutzfeldt\u2013Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification. Acta Neuropathol 118:659\u2013671. https:\/\/doi.org\/10.1007\/s00401-009-0585-1","journal-title":"Acta Neuropathol"},{"key":"2168_CR46","first-page":"2825","volume":"12","author":"F Pedregosa","year":"2011","unstructured":"Pedregosa F, Varoquaux G, Gramfort A, Michel V, Thirion B, Grisel O et al (2011) Scikit-learn: machine learning in python. J Mach Learn Res 12:2825\u20132830","journal-title":"J Mach Learn Res"},{"key":"2168_CR47","unstructured":"Plotly Technologies Inc. Collaborative Data Science. Plotly (2015) https:\/\/plotly.com\/python\/. Accessed 25 April 2025"},{"key":"2168_CR48","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1038\/s41467-020-14367-0","volume":"11","author":"MA Reyna","year":"2020","unstructured":"Reyna MA, Haan D, Paczkowska M, Verbeke LPC, Vazquez M, Kahraman A et al (2020) Pathway and network analysis of more than 2500 whole cancer genomes. Nat Commun 11:729. https:\/\/doi.org\/10.1038\/s41467-020-14367-0","journal-title":"Nat Commun"},{"key":"2168_CR49","doi-asserted-by":"publisher","first-page":"i972","DOI":"10.1093\/bioinformatics\/bty613","volume":"34","author":"MA Reyna","year":"2018","unstructured":"Reyna MA, Leiserson MDM, Raphael BJ (2018) Hierarchical hotnet: identifying hierarchies of altered subnetworks. Bioinformatics 34:i972\u2013i980. https:\/\/doi.org\/10.1093\/bioinformatics\/bty613","journal-title":"Bioinformatics"},{"key":"2168_CR50","doi-asserted-by":"publisher","unstructured":"Seabold S, Perktold J (2010) Statsmodels: econometric and statistical modeling with Python. In: Proceedings of the 9th Python in science conference 92\u201396. https:\/\/doi.org\/10.25080\/Majora-92bf1922-011","DOI":"10.25080\/Majora-92bf1922-011"},{"key":"2168_CR51","doi-asserted-by":"publisher","first-page":"eaay5947","DOI":"10.1126\/science.aay5947","volume":"367","author":"E Sj\u00f6stedt","year":"2020","unstructured":"Sj\u00f6stedt E, Zhong W, Fagerberg L, Karlsson M, Mitsios N, Adori C et al (2020) An atlas of the protein-coding genes in the human, pig, and mouse brain. Science 367:eaay5947. https:\/\/doi.org\/10.1126\/science.aay5947","journal-title":"Science"},{"key":"2168_CR52","doi-asserted-by":"publisher","first-page":"969","DOI":"10.1001\/jamaneurol.2019.1071","volume":"76","author":"AM Staffaroni","year":"2019","unstructured":"Staffaroni AM, Kramer AO, Casey M, Kang H, Rojas JC, Orr\u00fa CD et al (2019) Association of blood and cerebrospinal fluid Tau level and other biomarkers with survival time in sporadic Creutzfeldt-Jakob disease. JAMA Neurol 76:969. https:\/\/doi.org\/10.1001\/jamaneurol.2019.1071","journal-title":"JAMA Neurol"},{"key":"2168_CR53","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1186\/s40478-022-01483-9","volume":"10","author":"M Tarozzi","year":"2022","unstructured":"Tarozzi M, Baiardi S, Sala C, Bartoletti-Stella A, Parchi P, Capellari S et al (2022) Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease. Acta Neuropathol Commun 10:181. https:\/\/doi.org\/10.1186\/s40478-022-01483-9","journal-title":"Acta Neuropathol Commun"},{"key":"2168_CR54","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.21105\/joss.01169","volume":"4","author":"MA Terpilowski","year":"2019","unstructured":"Terpilowski MA (2019) scikit-posthocs: pairwise multiple comparison tests in python. J Open Source Softw 4:1169. https:\/\/doi.org\/10.21105\/joss.01169","journal-title":"J Open Source Softw"},{"key":"2168_CR55","unstructured":"The Human Protein Atlas https:\/\/www.proteinatlas.org\/. Accessed 29 Mar 2025"},{"key":"2168_CR56","unstructured":"The Human Protein Atlas Brain tissue expression of WASF1\u2014Summary. https:\/\/www.proteinatlas.org\/ENSG00000112290-WASF1\/brain. Accessed 29 Mar 2025"},{"key":"2168_CR57","unstructured":"The Human Protein Atlas Brain tissue expression of CCDC80\u2014Summary. https:\/\/www.proteinatlas.org\/ENSG00000091986-CCDC80\/brain. Accessed 29 Mar 2025"},{"key":"2168_CR58","unstructured":"The Human Protein Atlas Brain tissue expression of GPC5\u2014Summary https:\/\/www.proteinatlas.org\/ENSG00000179399-GPC5\/brain. Accessed 29 Mar 2025"},{"key":"2168_CR59","doi-asserted-by":"publisher","unstructured":"The pandas development team (2024) pandas-dev\/pandas: pandas (v2.2.2). https:\/\/doi.org\/10.5281\/zenodo.10957263. Zenodo","DOI":"10.5281\/zenodo.10957263"},{"key":"2168_CR60","doi-asserted-by":"publisher","unstructured":"Thellung S, Corsaro A, Dellacasagrande I, Nizzari M, Zambito M, Florio T (2022) Proteostasis unbalance in prion diseases: mechanisms of neurodegeneration and therapeutic targets. Front Neurosci. https:\/\/doi.org\/10.3389\/fnins.2022.966019","DOI":"10.3389\/fnins.2022.966019"},{"key":"2168_CR61","doi-asserted-by":"publisher","first-page":"3322","DOI":"10.1021\/acs.jproteome.5b00354","volume":"14","author":"EA Th\u00e9venot","year":"2015","unstructured":"Th\u00e9venot EA, Roux A, Xu Y, Ezan E, Junot C (2015) Analysis of the human adult urinary metabolome variations with age, body mass index, and gender by implementing a comprehensive workflow for univariate and OPLS statistical analyses. J Proteome Res 14:3322\u20133335. https:\/\/doi.org\/10.1021\/acs.jproteome.5b00354","journal-title":"J Proteome Res"},{"key":"2168_CR62","doi-asserted-by":"publisher","unstructured":"Toni M, Massimino ML, De Mario A, Angiulli E, Spisni E (2017) Metal dyshomeostasis and their pathological role in prion and prion-like diseases: the basis for a nutritional approach. Front Neurosci 11 :3 https:\/\/doi.org\/10.3389\/fnins.2017.00003","DOI":"10.3389\/fnins.2017.00003"},{"key":"2168_CR63","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1038\/s41592-019-0686-2","volume":"17","author":"P Virtanen","year":"2020","unstructured":"Virtanen P, Gommers R, Oliphant TE, Haberland M, Reddy T, Cournapeau D et al (2020) SciPy 1.0: fundamental algorithms for scientific computing in python. Nat Methods 17:261\u2013272. https:\/\/doi.org\/10.1038\/s41592-019-0686-2","journal-title":"Nat Methods"},{"key":"2168_CR64","doi-asserted-by":"publisher","first-page":"3021","DOI":"10.21105\/joss.03021","volume":"6","author":"ML Waskom","year":"2021","unstructured":"Waskom ML (2021) Seaborn: statistical data visualization. J Open Source Softw 6:3021. https:\/\/doi.org\/10.21105\/joss.03021","journal-title":"J Open Source Softw"},{"key":"2168_CR65","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1038\/ncomms2135","volume":"3","author":"NT Watt","year":"2012","unstructured":"Watt NT, Taylor DR, Kerrigan TL, Griffiths HH, Rushworth JV, Whitehouse IJ et al (2012) Prion protein facilitates uptake of zinc into neuronal cells. Nat Commun 3:1134. https:\/\/doi.org\/10.1038\/ncomms2135","journal-title":"Nat Commun"},{"key":"2168_CR66","doi-asserted-by":"crossref","unstructured":"Wickham H (2016) ggplot2: elegant graphics for data analysis, 2nd edn. Springer","DOI":"10.1007\/978-3-319-24277-4_9"},{"key":"2168_CR67","unstructured":"Wickham H, Fran\u00e7ois R, Henry L (2023) dplyr: a grammar of data manipulation. https:\/\/cran.r-project.org\/package=dplyr. Accessed 25 April 2025"},{"key":"2168_CR68","unstructured":"Wickham H, Henry L (2023) tidyr: tidy messy data. https:\/\/cran.r-project.org\/package=tidyr. Accessed 25 April 2025"},{"key":"2168_CR69","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00401-021-02311-5","volume":"142","author":"AL Woerman","year":"2021","unstructured":"Woerman AL (2021) Strain diversity in neurodegenerative disease: an argument for a personalized medicine approach to diagnosis and treatment. Acta Neuropathol 142:1\u20133. https:\/\/doi.org\/10.1007\/s00401-021-02311-5","journal-title":"Acta Neuropathol"},{"key":"2168_CR70","first-page":"155","volume-title":"Handbook of Clinical Neurology","author":"I Zerr","year":"2018","unstructured":"Zerr I, Parchi P (2018) Sporadic Creutzfeldt\u2013Jakob disease. Handbook of clinical neurology. Elsevier, Amsterdam, pp 155\u2013174"},{"key":"2168_CR71","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1038\/s41467-019-09234-6","volume":"10","author":"Y Zhou","year":"2019","unstructured":"Zhou Y, Zhou B, Pache L, Chang M, Khodabakhshi AH, Tanaseichuk O et al (2019) Metascape provides a biologist-oriented resource for the analysis of systems-level datasets. Nat Commun 10:1523. https:\/\/doi.org\/10.1038\/s41467-019-09234-6","journal-title":"Nat Commun"}],"container-title":["Acta Neuropathologica Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-025-02168-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40478-025-02168-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-025-02168-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T21:01:55Z","timestamp":1767906115000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s40478-025-02168-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,15]]},"references-count":71,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["2168"],"URL":"https:\/\/doi.org\/10.1186\/s40478-025-02168-9","relation":{},"ISSN":["2051-5960"],"issn-type":[{"value":"2051-5960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,15]]},"assertion":[{"value":"9 June 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted according to the revised Declaration of Helsinki and Good Clinical Practice guidelines and approved by the local ethics committee (approval number AVEC:18025, 113\/2018\/OSS\/AUSLBO). Written informed consent was given by study participants or the next of kin.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"GMB, AM (Angela Mammana), DG, SB, EV, AM (Andrea Mastrangelo), AR, IMH, KB, SC, and PP declare no competing interests. Outside the submitted work: SA reports a patent pending; SA is in a consortium agreement with Cergentis BV as part of the TargetSV project; SA is in a consortium agreement with Olink and Quanterix as part of the NORMAL project.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"14"}}