{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T07:19:49Z","timestamp":1789370389788,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T00:00:00Z","timestamp":1464825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS043488"],"award-info":[{"award-number":["NS043488"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Sleep Research"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In this study, we aimed to assess sleep function in patients with recent\u2010onset familial Creutzfeldt\u2013Jakob disease (<jats:styled-content style=\"fixed-case\">fCJD<\/jats:styled-content>). The largest cluster of <jats:styled-content style=\"fixed-case\">fCJD<\/jats:styled-content> patients is found in Jews of Libyan origin, linked to the prion protein gene (<jats:italic><jats:styled-content style=\"fixed-case\">PRNP<\/jats:styled-content><\/jats:italic>) E200K mutation. The high index of suspicion in these patients often leads to early diagnosis, with complaints of insomnia being a very common presenting symptom of the disease. The study included 10 <jats:styled-content style=\"fixed-case\">fCJD<\/jats:styled-content> patients diagnosed by clinical manifestations, magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) scan of the brain, elevated tau protein in the cerebrospinal fluid (<jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>) and positive <jats:italic><jats:styled-content style=\"fixed-case\">PRNP<\/jats:styled-content><\/jats:italic> E200K mutation. Standard polysomnography was performed after a brief interview confirming the presence of sleep disturbances. All patients showed a pathological sleep pattern according to all scoring evaluation settings. The sleep stages were characterized by (i) disappearance of sleep spindles; (ii) outbursts of periodic sharp waves and shallowing of sleep consisting in increased Stage 2 and wake periods during the night, as well as decrease of slow\u2010wave sleep and rapid eye movement (<jats:styled-content style=\"fixed-case\">REM<\/jats:styled-content>) sleep. Recordings of respiratory functions reported irregular breathing with central and obstructive apnea and hypopnea. The typical hypotonia occurring during the night and atonia during <jats:styled-content style=\"fixed-case\">REM<\/jats:styled-content> sleep were replaced by hyperactive sleep consisting of multiple jerks, movements and parasomnia (mainly talking) throughout the night. In conclusion, we report unique pathological sleep patterns in early <jats:styled-content style=\"fixed-case\">fCJD<\/jats:styled-content> associated with the E200K mutation. Specific respiratory disturbances and lack of atonia could possibly serve as new, early diagnostic tools in the disease.<\/jats:p>","DOI":"10.1111\/jsr.12405","type":"journal-article","created":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T09:02:50Z","timestamp":1464858170000},"page":"571-575","source":"Crossref","is-referenced-by-count":10,"title":["Early pathology in sleep studies of patients with familial Creutzfeldt\u2013Jakob disease"],"prefix":"10.1111","volume":"25","author":[{"given":"Gili","family":"Givaty","sequence":"first","affiliation":[{"name":"Department of Neurology The Chaim Sheba Medical Center, Tel HaShomer Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Maggio","sequence":"additional","affiliation":[{"name":"Department of Neurology The Chaim Sheba Medical Center, Tel HaShomer Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oren S.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Neurology The Chaim Sheba Medical Center, Tel HaShomer Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilan","family":"Blatt","sequence":"additional","affiliation":[{"name":"Department of Neurology The Chaim Sheba Medical Center, Tel HaShomer Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joab","family":"Chapman","sequence":"additional","affiliation":[{"name":"Department of Neurology The Chaim Sheba Medical Center, Tel HaShomer Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.2007.19.4.428"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0760-4"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.3.758"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-010-5694-1"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1217"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(02)00065-3"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)93443-S"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autneu.2011.08.002"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000210445.16135.56"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198610163151605"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-144-11-200606060-00004"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.3.362"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/15.2.173"}],"container-title":["Journal of Sleep Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjsr.12405","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjsr.12405","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jsr.12405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T18:57:38Z","timestamp":1696186658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jsr.12405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,2]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/jsr.12405"],"URL":"https:\/\/doi.org\/10.1111\/jsr.12405","archive":["Portico"],"relation":{},"ISSN":["0962-1105","1365-2869"],"issn-type":[{"value":"0962-1105","type":"print"},{"value":"1365-2869","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,2]]}}}