{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T02:47:15Z","timestamp":1773197235105,"version":"3.50.1"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1997,8]]},"DOI":"10.1212\/wnl.49.2.552","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:29:48Z","timestamp":1336915788000},"page":"552-558","source":"Crossref","is-referenced-by-count":63,"title":["The D178N (cis-129M) \"fatal familial insomnia\" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred"],"prefix":"10.1212","volume":"49","author":[{"given":"C. A.","family":"McLean","sequence":"first","affiliation":[{"name":"From the Department of Pathology (Drs. McLean and Storey), the University of Melbourne; the Departments of Anatomical Pathology (Dr. McLean) and Neurology (Dr. Storey) and the Neurogenetic Clinic (Dr. Gardner), the Royal Melbourne Hospital; and the Victorian Clinical Genetics Service (Dr. Gardner), Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia; the Department of Pathology (Dr. Tannenberg), Mater Misericordiae Public Hospital, South Brisbane, Queensland, Australia; and..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Storey","sequence":"additional","affiliation":[{"name":"From the Department of Pathology (Drs. McLean and Storey), the University of Melbourne; the Departments of Anatomical Pathology (Dr. McLean) and Neurology (Dr. Storey) and the Neurogenetic Clinic (Dr. Gardner), the Royal Melbourne Hospital; and the Victorian Clinical Genetics Service (Dr. Gardner), Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia; the Department of Pathology (Dr. Tannenberg), Mater Misericordiae Public Hospital, South Brisbane, Queensland, Australia; and..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.J.M.","family":"Gardner","sequence":"additional","affiliation":[{"name":"From the Department of Pathology (Drs. McLean and Storey), the University of Melbourne; the Departments of Anatomical Pathology (Dr. McLean) and Neurology (Dr. Storey) and the Neurogenetic Clinic (Dr. Gardner), the Royal Melbourne Hospital; and the Victorian Clinical Genetics Service (Dr. Gardner), Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia; the Department of Pathology (Dr. Tannenberg), Mater Misericordiae Public Hospital, South Brisbane, Queensland, Australia; and..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. E.G.","family":"Tannenberg","sequence":"additional","affiliation":[{"name":"From the Department of Pathology (Drs. McLean and Storey), the University of Melbourne; the Departments of Anatomical Pathology (Dr. McLean) and Neurology (Dr. Storey) and the Neurogenetic Clinic (Dr. Gardner), the Royal Melbourne Hospital; and the Victorian Clinical Genetics Service (Dr. Gardner), Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia; the Department of Pathology (Dr. Tannenberg), Mater Misericordiae Public Hospital, South Brisbane, Queensland, Australia; and..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Cervena\u0301kova\u0301","sequence":"additional","affiliation":[{"name":"From the Department of Pathology (Drs. McLean and Storey), the University of Melbourne; the Departments of Anatomical Pathology (Dr. McLean) and Neurology (Dr. Storey) and the Neurogenetic Clinic (Dr. Gardner), the Royal Melbourne Hospital; and the Victorian Clinical Genetics Service (Dr. Gardner), Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia; the Department of Pathology (Dr. Tannenberg), Mater Misericordiae Public Hospital, South Brisbane, Queensland, Australia; and..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Brown","sequence":"additional","affiliation":[{"name":"From the Department of Pathology (Drs. McLean and Storey), the University of Melbourne; the Departments of Anatomical Pathology (Dr. McLean) and Neurology (Dr. Storey) and the Neurogenetic Clinic (Dr. Gardner), the Royal Melbourne Hospital; and the Victorian Clinical Genetics Service (Dr. Gardner), Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia; the Department of Pathology (Dr. Tannenberg), Mater Misericordiae Public Hospital, South Brisbane, Queensland, Australia; and..."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_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 gene at codon 178. Neurology 1992;42:669-670.","journal-title":"Neurology"},{"key":"e_1_3_1_3_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. New Engl J Med 1992;326:444-449.","journal-title":"New Engl J Med"},{"key":"e_1_3_1_4_2","first-page":"4","volume":"337","year":"1991","unstructured":"Goldfarb L, Haltia M, Brown P, et al. New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. Lancet 1991;337:425.","journal-title":"Lancet"},{"key":"e_1_3_1_5_2","first-page":"4","volume":"5","year":"1995","unstructured":"Gambetti P, Parchi P, Petersen RB, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol 1995;5:43-51.","journal-title":"Brain Pathol"},{"key":"e_1_3_1_6_2","first-page":"2","volume":"8","year":"1995","unstructured":"Parchi P, Gambetti P. Human prion diseases. Curr Opin Neurol 1995;8:286-293.","journal-title":"Curr Opin Neurol"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.1.1"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.1.1"},{"key":"e_1_3_1_9_2","first-page":"1","volume":"6","year":"1984","unstructured":"Harding AE. The hereditary ataxias and related disorders. In: Glaser GH, Barbeau A, Barnett HJM, et al., eds. Clinical neurology and neurosurgery monograph. Churchill Livingstone: Longman Group, 1984;6:129-164.","journal-title":"Churchill Livingstone: Longman Group,"},{"key":"e_1_3_1_10_2","first-page":"2","volume":"91","year":"1994","unstructured":"Monari L, Chen SG, Brown P, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci USA 1994;91:2839-2842.","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_3_1_11_2","first-page":"6","volume":"115","year":"1992","unstructured":"Collinge J, Brown J, Hardy et al. Inherited prion disease with 144 base pair gene insertion. Brain 1992;115:687-710.","journal-title":"Brain"},{"key":"e_1_3_1_12_2","first-page":"5","volume":"40","year":"1990","unstructured":"Piccardo P, Safar J, Ceroni M, Gajdusek DC, Gibbs CJ. Immunohistochemical localization of prion protein in spongiform encephalopathies and normal brain tissue. Neurology 1990;40:518-522.","journal-title":"Neurology"},{"key":"e_1_3_1_13_2","first-page":"3","volume":"343","year":"1994","unstructured":"Kitamoto T, Tateishi J. Human prion diseases with variant prion protein. Phil Trans R Soc Lond 1994;343:391-398.","journal-title":"Phil Trans R Soc Lond"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380103"},{"key":"e_1_3_1_15_2","first-page":"7","volume":"46","year":"1996","unstructured":"Chapman J, Arlazoroff A, Goldfarb LG, et al. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200Lys mutation. Neurology 1996;46:758-761.","journal-title":"Neurology"},{"key":"e_1_3_1_16_2","first-page":"4","volume":"6","year":"1979","unstructured":"Brown P, Cathala F, Sadowsky D, Gajdusek DC. Creutzfeldt-Jakob disease in France: 11. Clinical characteristics of 124 consecutive verified cases during the decade 1968-1977. Ann Neurol 1979;6:430-437.","journal-title":"Ann Neurol"},{"key":"e_1_3_1_17_2","first-page":"3","volume":"5","year":"1995","unstructured":"Richardson E, Masters CL. The nosology of Creutzfeldt-Jakob disease and conditions related to the accumulation of PrPCJD in the nervous system. Brain Pathol 1995;5:33-41.","journal-title":"Brain Pathol"},{"key":"e_1_3_1_18_2","first-page":"1","volume":"49","year":"1991","unstructured":"Collinge J, Poulter M, Davis MB, Baratser M, Owen F, Crow TJ. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am J Hum Genet 1991;49:1351-1354.","journal-title":"Am J Hum Genet"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.49.2.552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T14:35:29Z","timestamp":1711550129000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.49.2.552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,8]]}},"alternative-id":["10.1212\/WNL.49.2.552"],"URL":"https:\/\/doi.org\/10.1212\/wnl.49.2.552","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,8]]}}}