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Clinical evaluation is fundamental in defining the diagnosis of sCJD. When clinical suspicion is strong, the diagnostic work-up should be continued. In this case, the combination of comprehensive clinical evaluations and advanced diagnostic tools, including RT-QuIC and polysomnography, proved essential in making a definitive diagnosis.<\/jats:p>","DOI":"10.1136\/pn-2024-004301","type":"journal-article","created":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T13:20:36Z","timestamp":1727270436000},"page":"159-163","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Sporadic fatal insomnia"],"prefix":"10.1136","volume":"25","author":[{"given":"Marta","family":"Del Chicca","sequence":"first","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Belli","sequence":"additional","affiliation":[{"name":"Neurology Unit, Versilia Hospital, Viareggio, Toscana, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Nicoletti","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Bergamin","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Giampietri","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Pascazio","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelangelo","family":"Maestri Tassoni","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Baldacci","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Tognoni","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,9,25]]},"reference":[{"key":"2025090411181584000_25.2.159.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30477-4"},{"key":"2025090411181584000_25.2.159.2","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1212\/CON.0000000000000251","article-title":"Prion Diseases","volume":"21","author":"Geschwind","year":"2015","journal-title":"Continuum (Minneap Minn)"},{"key":"2025090411181584000_25.2.159.3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70063-7"},{"key":"2025090411181584000_25.2.159.4","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63945-5.00015-5"},{"key":"2025090411181584000_25.2.159.5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25300"},{"key":"2025090411181584000_25.2.159.6","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W"},{"key":"2025090411181584000_25.2.159.7","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/mds.25786","article-title":"Gait disorders in fatal familial insomnia","volume":"29","author":"Cortelli","year":"2014","journal-title":"Mov Disord"},{"key":"2025090411181584000_25.2.159.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(02)00065-3"},{"key":"2025090411181584000_25.2.159.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1683-0"},{"key":"2025090411181584000_25.2.159.10","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-10922-w"},{"key":"2025090411181584000_25.2.159.11","unstructured":"Berry RB , Quan SF , Abreu AR , et al . 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