{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:33:42Z","timestamp":1760985222329},"reference-count":20,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":3076,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[2006,7]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167100005072_abs1\"><jats:title>Background:<\/jats:title><jats:p>Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding<jats:italic>PrP<\/jats:italic>, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100005072_abs2\"><jats:title>Case Report:<\/jats:title><jats:p>Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the<jats:italic>PRNP<\/jats:italic>gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100005072_abs3\"><jats:title>Conclusions:<\/jats:title><jats:p>The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100005072","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T15:30:24Z","timestamp":1418398224000},"page":"243-245","source":"Crossref","is-referenced-by-count":4,"title":["A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough"],"prefix":"10.1017","volume":"33","author":[{"given":"Sandrine","family":"Larue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Verreault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Gould","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B.","family":"Coulthart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Bergeron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Dupr\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,12,2]]},"reference":[{"key":"S0317167100005072_ref017","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340215"},{"key":"S0317167100005072_ref010","volume-title":"Clinicopathological aspects of Creutzfeldt-Jakob disease.","author":"Mizutani","year":"1985"},{"key":"S0317167100005072_ref020","doi-asserted-by":"publisher","DOI":"10.1086\/302340"},{"key":"S0317167100005072_ref006","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390613"},{"key":"S0317167100005072_ref011","author":"Kirschbaum","year":"1968","journal-title":"Jakob-Creutzfeldt Disease."},{"key":"S0317167100005072_ref019","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20472"},{"key":"S0317167100005072_ref013","doi-asserted-by":"publisher","DOI":"10.1006\/pupt.2002.0358"},{"key":"S0317167100005072_ref004","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1750-3639.2002.tb00417.x","article-title":"Immunohistochemistry for the prion protein: Comparison of different monoclonal antibodies in human prion disease subtypes.","volume":"12","author":"G\u00e1bor","year":"2002","journal-title":"Brain Pathol."},{"key":"S0317167100005072_ref012","doi-asserted-by":"publisher","DOI":"10.3109\/02770909309054532"},{"key":"S0317167100005072_ref003","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199609263351303"},{"key":"S0317167100005072_ref002","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.7.1056"},{"key":"S0317167100005072_ref007","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(89)90095-2"},{"key":"S0317167100005072_ref005","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380107"},{"key":"S0317167100005072_ref008","doi-asserted-by":"publisher","DOI":"10.1177\/089198879801100206"},{"key":"S0317167100005072_ref001","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2004.45.1.145"},{"key":"S0317167100005072_ref014","doi-asserted-by":"publisher","DOI":"10.1006\/pulp.1996.0045"},{"key":"S0317167100005072_ref015","doi-asserted-by":"publisher","DOI":"10.1016\/j.pupt.2004.09.007"},{"key":"S0317167100005072_ref009","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.5.577"},{"key":"S0317167100005072_ref018","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.6042.981-a"},{"key":"S0317167100005072_ref016","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.4.940"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100005072","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T21:13:16Z","timestamp":1717621996000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100005072\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["S0317167100005072"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100005072","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7]]}}}