{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:55:03Z","timestamp":1790232903574,"version":"4.1.0"},"reference-count":22,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD&lt;sup&gt;D178N,&lt;\/sup&gt;&lt;sup&gt;129V&lt;\/sup&gt;) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene &lt;i&gt;(PRNP)&lt;\/i&gt;, but differ in their polymorphism at codon 129 of the mutant allele. A mutation at codon 171 of the &lt;i&gt;PRNP &lt;\/i&gt;gene has been described in a family with a strong psychiatric history without prion disease. &lt;i&gt;Methods:&lt;\/i&gt; Clinical and genetic information of a family with CJD was obtained from medical records and family informants. &lt;i&gt;Results:&lt;\/i&gt; We identified an African-American family with molecular and genetically confirmed CJD&lt;sup&gt;D178N,&lt;\/sup&gt;&lt;sup&gt;129V&lt;\/sup&gt; that also carried the N171S, 129V polymorphism and had a strong psychiatric clinical presentation. &lt;i&gt;Conclusion:&lt;\/i&gt; This is a complex family that carries the D178N, 129V and N171S, 129V genotype. This report is the first description of both genotypes occurring within a family with genetic human prion disease.<\/jats:p>","DOI":"10.1159\/000321472","type":"journal-article","created":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T08:50:18Z","timestamp":1289551818000},"page":"424-431","source":"Crossref","is-referenced-by-count":14,"title":["D178N, 129Val and N171S, 129Val Genotype in a Family with Creutzfeldt-Jakob Disease"],"prefix":"10.1159","volume":"30","author":[{"given":"Brian S.","family":"Appleby","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin K.","family":"Appleby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan C.W.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell T.","family":"Wallin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,11,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.6801762"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410310308"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1750-3639.1995.tb00576.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2F36757"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawp191"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-005-0020-1"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00143128"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1439789"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00415-002-0896-9"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM198610163151605"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1750-3639.1995.tb00576.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1176%2Fappi.psy.47.6.527"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1054%2Fjocn.2001.0919"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.smrv.2005.02.001"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2FS0272-2712%2802%2900065-3"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1097%2FWAD.0b013e3181ae3a76"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136%2Fjnnp.2004.056606"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1600-0404.2001.103003139.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.91.7.2839"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159%2F000084549"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawl003"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neulet.2007.10.015"}],"container-title":["Dementia and Geriatric Cognitive Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/321472","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/321472","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:00:15Z","timestamp":1745434815000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000321472"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":22,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2010,12,1]]},"published-print":{"date-parts":[[2010,12,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000321472","archive":["Portico"],"relation":{},"ISSN":["1420-8008","1421-9824"],"issn-type":[{"value":"1420-8008","type":"print"},{"value":"1421-9824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}