{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:59:46Z","timestamp":1789181986728,"version":"build-2803163510"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["neurology.org"],"crossmark-restriction":true},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1996,11]]},"DOI":"10.1212\/wnl.47.5.1313","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T09:24:15Z","timestamp":1336901055000},"page":"1313-1316","update-policy":"https:\/\/doi.org\/10.1212\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":34,"title":["Fatal familial insomnia with a mutation at codon 178 of the prion protein gene"],"prefix":"10.1212","volume":"47","author":[{"given":"Masao","family":"Nagayama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukito","family":"Shinohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisako","family":"Furukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuyuki","family":"Kitamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_2","first-page":"4","volume":"326","year":"1992","unstructured":"Medori R, Tritschler HJ, LeBlanc A, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 1992;326:444-449.","journal-title":"N Engl J Med"},{"key":"e_1_3_1_3_2","first-page":"3","volume":"42","year":"1992","unstructured":"Manetto V, Medori R, Cortelli P, et al. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology 1992;42:312-319.","journal-title":"Neurology"},{"key":"e_1_3_1_4_2","first-page":"6","volume":"42","year":"1992","unstructured":"Medori R, Montagna P, Tritschler HJ, et al. Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology 1992;42:669-670.","journal-title":"Neurology"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.1.1"},{"key":"e_1_3_1_6_2","first-page":"9","volume":"315","year":"1986","unstructured":"Lugaresi E, Medori R, Montagna P, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med 1986;315:997-1003.","journal-title":"N Engl J Med"},{"key":"e_1_3_1_7_2","first-page":"7","volume":"191","year":"1993","unstructured":"Kitamoto T, Ohta M, Doh-ura K, et al. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome. Biochem Biophys Res Commun 1993;191:709-714.","journal-title":"Biochem Biophys Res Commun"},{"key":"e_1_3_1_8_2","unstructured":"Martin JJ. Thalamic degenerations. In: Vinken PJ Bruyn GW eds. Handbook of clinical neurology. Vol 21. Amsterdam: North-Holland 1975:587-604."},{"key":"e_1_3_1_9_2","first-page":"8","volume":"258","year":"1992","unstructured":"Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992;258:806-808.","journal-title":"Science"},{"key":"e_1_3_1_10_2","first-page":"1","volume":"146","year":"1990","unstructured":"Julien J, Vital C, Deleplanque B, Lagueny A, Ferrer X. Atrophie thalamique subaigue familiale. Troubles mnesiques et insomnie totale. Rev Neurol (Paris) 1990;146:173-178.","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200103"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.1.1"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.1.1"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0010-9452(13)80161-X"},{"key":"e_1_3_1_15_2","first-page":"1","volume":"2","year":"1983","unstructured":"Martin JJ, Yap M, Nei IP, Tan TE. Selective thalamic degeneration - report of a case with memory and mental disturbances. Clin Neuropathol 1983;2:156-162.","journal-title":"Clin Neuropathol"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/62.1.1"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.1159\/000148453"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90099-8"},{"key":"e_1_3_1_19_2","doi-asserted-by":"crossref","unstructured":"Oda M. Thalamus degeneration in Japan. A review from clinical and pathological viewpoints. In: Gildenberg PL Ohye C eds. Applied neurophysiology. Basel: S. Karger 1976-1977;39:178-198.","DOI":"10.1159\/000102493"},{"key":"e_1_3_1_20_2","first-page":"7","volume":"231","year":"1981","unstructured":"Hori A, Ikeda K, Kosaka K, Shinohara S, Iizuka R. System degeneration of the thalamus. a clinico-neuropathological study. Arch Psychiatr Nervenkr 1981;231:71-80.","journal-title":"Arch Psychiatr Nervenkr"},{"key":"e_1_3_1_21_2","doi-asserted-by":"crossref","unstructured":"Pilz P Erhart P. Thalamic degeneration. Acta Neuropathol (Berl) 1981;(suppl. VII):362-364.","DOI":"10.1007\/978-3-642-81553-9_103"},{"key":"e_1_3_1_22_2","first-page":"5","volume":"26","year":"1987","unstructured":"Lugaresi A, Baruzzi A, Cacciari E, et al. Lack of vegetative and endocrine circadian rhythms in fatal familial thalamic degeneration. Clin Endocrinol (Oxf) 1987;26:573-580.","journal-title":"Clin Endocrinol (Oxf)"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.47.5.1313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T06:17:41Z","timestamp":1711520261000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.47.5.1313"}},"subtitle":["First report from Japan"],"short-title":[],"issued":{"date-parts":[[1996,11]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1996,11]]}},"alternative-id":["10.1212\/WNL.47.5.1313"],"URL":"https:\/\/doi.org\/10.1212\/wnl.47.5.1313","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,11]]}}}