{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:59:04Z","timestamp":1791410344467,"version":"4.3.3"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T00:00:00Z","timestamp":1616371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006747","name":"Fondazione Cariverona","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006747","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Brain Research Foundation Verona"},{"name":"National Institute of Allergy and Infectious Diseases, National Institutes of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In patients with suspected dementia with Lewy bodies, the detection of the disease-associated \u03b1-synuclein in easily accessible tissues amenable to be collected using minimally invasive procedures remains a major diagnostic challenge. This approach has the potential to take advantage of modern molecular assays for the diagnosis of \u03b1\u2013synucleinopathy and, in turn, to optimize the recruitment and selection of patients in clinical trials, using drugs directed at counteracting \u03b1-synuclein aggregation. In this study, we explored the diagnostic accuracy of \u03b1-synuclein real-time quaking-induced conversion assay by testing olfactory mucosa and CSF in patients with a clinical diagnosis of probable (n\u2009=\u200932) or prodromal (n\u2009=\u20095) dementia with Lewy bodies or mixed degenerative dementia (dementia with Lewy bodies\/Alzheimer\u2019s disease) (n\u2009=\u20096). Thirty-eight patients with non-\u03b1-synuclein-related neurodegenerative and non-neurodegenerative disorders, including Alzheimer\u2019s disease (n\u2009=\u200910), sporadic Creutzfeldt\u2013Jakob disease (n\u2009=\u200910), progressive supranuclear palsy (n\u2009=\u20098), corticobasal syndrome (n\u2009=\u20091), fronto-temporal dementia (n\u2009=\u20093) and other neurological conditions (n\u2009=\u20096) were also included, as controls. All 81 patients underwent olfactory swabbing while CSF was obtained in 48 participants. At the initial blinded screening of olfactory mucosa samples, 38 out of 81 resulted positive while CSF was positive in 19 samples out of 48 analysed. After unblinding of the results, 27 positive olfactory mucosa were assigned to patients with probable dementia with Lewy bodies, five with prodromal dementia with Lewy bodies and three to patients with mixed dementia, as opposed to three out 38 controls. Corresponding results of CSF testing disclosed 10 out 10 positive samples in patients with probable dementia with Lewy bodies and six out of six with mixed dementia, in addition to three out of 32 for controls. The accuracy among results of real-time quaking-induced conversion assays and clinical diagnoses was 86.4% in the case of olfactory mucosa and 93.8% for CSF. For the first time, we showed that \u03b1-synuclein real-time quaking-induced conversion assay detects \u03b1-synuclein aggregates in olfactory mucosa of patients with dementia with Lewy bodies and with mixed dementia. Additionally, we provided preliminary evidence that the combined testing of olfactory mucosa and CSF raised the concordance with clinical diagnosis potentially to 100%. Our results suggest that nasal swabbing might be considered as a first-line screening procedure in patients with a diagnosis of suspected dementia with Lewy bodies followed by CSF analysis, as a confirmatory test, when the result in the olfactory mucosa is incongruent with the initial clinical diagnosis.<\/jats:p>","DOI":"10.1093\/braincomms\/fcab045","type":"journal-article","created":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T04:18:03Z","timestamp":1616213883000},"source":"Crossref","is-referenced-by-count":75,"title":["Alpha-synuclein seeds in olfactory mucosa and cerebrospinal fluid of patients with dementia with Lewy bodies"],"prefix":"10.1093","volume":"3","author":[{"given":"Daniela","family":"Perra","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G. B. 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B. Rossi, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Schenone","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale Policlinico San Martino, 16132 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Morbelli","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale Policlinico San Martino, 16132 Genova, Italy"},{"name":"Department of Health Science (DISSAL), University of Genova, 16132 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Fiorini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G. B. Rossi, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Cattaruzza","sequence":"additional","affiliation":[{"name":"Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, Cattinara University Hospital ASUGI, University of Trieste, 34128 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Mazzon","sequence":"additional","affiliation":[{"name":"Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, Cattinara University Hospital ASUGI, University of Trieste, 34128 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina D","family":"Orr\u00f9","sequence":"additional","affiliation":[{"name":"Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, National Institute for Allergy and Infectious Diseases, National Institutes of Health, Hamilton, 59840 Montana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Catalan","sequence":"additional","affiliation":[{"name":"Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, Cattinara University Hospital ASUGI, University of Trieste, 34128 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Polverino","sequence":"additional","affiliation":[{"name":"Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, Cattinara University Hospital ASUGI, University of Trieste, 34128 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Pellitteri","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariarosa","family":"Valente","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bertolotti","sequence":"additional","affiliation":[{"name":"Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, Cattinara University Hospital ASUGI, University of Trieste, 34128 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Nacmias","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliera- Universitaria Careggi, 50134 Florence, Italy"},{"name":"IRCCS Fondazione Don Carlo Gnocchi, 50143 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giandomenico","family":"Maggiore","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Cavallaro","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G. 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