{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:54:38Z","timestamp":1790423678130,"version":"4.1.0"},"reference-count":215,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Perspect Biol"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1101\/cshperspect.a033134","type":"journal-article","created":{"date-parts":[[2017,8,5]],"date-time":"2017-08-05T00:50:22Z","timestamp":1501894222000},"page":"a033134","source":"Crossref","is-referenced-by-count":93,"title":["Genetic PrP Prion Diseases"],"prefix":"10.1101","volume":"10","author":[{"given":"Mee-Ohk","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonel T.","family":"Takada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven A.","family":"Forner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Geschwind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2017,8,4]]},"reference":[{"key":"2018091410574690000_10.5.a033134.1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"2018091410574690000_10.5.a033134.2","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181e85737"},{"key":"2018091410574690000_10.5.a033134.3","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.2.354"},{"key":"2018091410574690000_10.5.a033134.4","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.048553"},{"key":"2018091410574690000_10.5.a033134.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21281"},{"key":"2018091410574690000_10.5.a033134.6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr294"},{"key":"2018091410574690000_10.5.a033134.7","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1159\/000331907","article-title":"Creutzfeldt\u2013Jakob disease surveillance in Argentina, 1997\u20132008","volume":"37","year":"2011","journal-title":"Neuroepidemiology"},{"key":"2018091410574690000_10.5.a033134.8","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1992.03490170085030"},{"key":"2018091410574690000_10.5.a033134.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(03)00017-0"},{"key":"2018091410574690000_10.5.a033134.10","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-146"},{"key":"2018091410574690000_10.5.a033134.11","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1212\/01.wnl.0000265815.38958.b6","article-title":"Amyloid imaging in distinguishing atypical prion disease from Alzheimer disease","volume":"69","year":"2007","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.12","first-page":"164","article-title":"A new point mutation of the PRNP gene in Gerstmann\u2013Str\u00e4ussler\u2013Scheinker case in Poland","volume":"38","year":"2000","journal-title":"Folia Neuropathol"},{"key":"2018091410574690000_10.5.a033134.13","doi-asserted-by":"publisher","DOI":"10.1097\/WAD.0b013e31824d578a"},{"key":"2018091410574690000_10.5.a033134.14","doi-asserted-by":"publisher","DOI":"10.1177\/0891988710383576"},{"key":"2018091410574690000_10.5.a033134.15","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060510"},{"key":"2018091410574690000_10.5.a033134.16","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200507"},{"key":"2018091410574690000_10.5.a033134.17","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310309"},{"key":"2018091410574690000_10.5.a033134.18","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1212\/WNL.42.2.422","article-title":"Atypical Creutzfeldt\u2013Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene","volume":"42","year":"1992","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.19","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350504"},{"key":"2018091410574690000_10.5.a033134.20","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000231528.65069.3f"},{"key":"2018091410574690000_10.5.a033134.21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1995.tb00625.x"},{"key":"2018091410574690000_10.5.a033134.22","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.4.517"},{"key":"2018091410574690000_10.5.a033134.23","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.121137"},{"key":"2018091410574690000_10.5.a033134.24","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000035533.86833.28"},{"key":"2018091410574690000_10.5.a033134.25","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000152837.82388.DE"},{"key":"2018091410574690000_10.5.a033134.26","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0760-4"},{"key":"2018091410574690000_10.5.a033134.27","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991215)88:6<653::AID-AJMG14>3.0.CO;2-E"},{"key":"2018091410574690000_10.5.a033134.28","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2006.08.008"},{"key":"2018091410574690000_10.5.a033134.29","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20133"},{"key":"2018091410574690000_10.5.a033134.30","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.meegid.2012.11.019","article-title":"Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt\u2013Jakob disease","volume":"14","year":"2013","journal-title":"Infect Genet Evol"},{"key":"2018091410574690000_10.5.a033134.31","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2334-9-132"},{"key":"2018091410574690000_10.5.a033134.32","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.3.727"},{"key":"2018091410574690000_10.5.a033134.33","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a006833"},{"key":"2018091410574690000_10.5.a033134.34","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.7.1058"},{"key":"2018091410574690000_10.5.a033134.35","doi-asserted-by":"publisher","DOI":"10.1054\/jocn.2001.0919"},{"key":"2018091410574690000_10.5.a033134.36","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl159"},{"key":"2018091410574690000_10.5.a033134.37","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1097\/01.jnen.0000228198.81797.4d","article-title":"Gerstmann\u2013Str\u00e4ussler\u2013Scheinker: A new phenotype with \u2018curly\u2019 PrP deposits","volume":"65","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"key":"2018091410574690000_10.5.a033134.38","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl003"},{"key":"2018091410574690000_10.5.a033134.39","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.020198"},{"key":"2018091410574690000_10.5.a033134.40","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10267"},{"key":"2018091410574690000_10.5.a033134.41","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3504"},{"key":"2018091410574690000_10.5.a033134.42","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/WAD.0b013e318231e449","article-title":"Long-standing prion dementia manifesting as posterior cortical atrophy","volume":"26","year":"2012","journal-title":"Alzheimer Dis Assoc Disord"},{"key":"2018091410574690000_10.5.a033134.43","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050603"},{"key":"2018091410574690000_10.5.a033134.44","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-64"},{"key":"2018091410574690000_10.5.a033134.45","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/116.3.555"},{"key":"2018091410574690000_10.5.a033134.46","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.11.1446"},{"key":"2018091410574690000_10.5.a033134.47","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/j.1749-6632.2000.tb06910.x","article-title":"High frequency of mutations in four different disease genes in early-onset dementia","volume":"920","year":"2000","journal-title":"Ann N Y Acad Sci"},{"key":"2018091410574690000_10.5.a033134.48","doi-asserted-by":"crossref","first-page":"249","DOI":"10.3233\/JAD-160300","article-title":"Genetic prion disease caused by PRNP Q160X mutation presenting with an orbitofrontal syndrome, cyclic diarrhea, and peripheral neuropathy","volume":"55","year":"2016","journal-title":"J Alzheimers Dis"},{"key":"2018091410574690000_10.5.a033134.49","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/66.1.213"},{"key":"2018091410574690000_10.5.a033134.50","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(02)00065-3"},{"key":"2018091410574690000_10.5.a033134.51","doi-asserted-by":"publisher","DOI":"10.1002\/9780470015902.a0024442"},{"key":"2018091410574690000_10.5.a033134.52","first-page":"736","article-title":"\u00dcber eine eigenartige heredit\u00e4r\u2013famili\u00e4re Erkrankung des Zentralnervensystems","volume":"154","year":"1935","journal-title":"Z Gesamte Neurolog Psychiat"},{"key":"2018091410574690000_10.5.a033134.53","first-page":"510","article-title":"Rapidly progressive dementia","volume":"22","year":"2016","journal-title":"Continuum (Minneap Minn)"},{"key":"2018091410574690000_10.5.a033134.54","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1995.tb00578.x"},{"key":"2018091410574690000_10.5.a033134.55","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.2.744"},{"key":"2018091410574690000_10.5.a033134.56","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10926"},{"key":"2018091410574690000_10.5.a033134.57","doi-asserted-by":"publisher","DOI":"10.1126\/science.1439789"},{"key":"2018091410574690000_10.5.a033134.58","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1212\/WNL.43.11.2392","article-title":"A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt\u2013Jakob disease","volume":"43","year":"1993","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.59","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(89)90095-2"},{"key":"2018091410574690000_10.5.a033134.60","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.psc.2015.01.008","article-title":"Genetic testing and counseling in the diagnosis and management of young-onset dementias","volume":"38","year":"2015","journal-title":"Psychiatr Clin North Am"},{"key":"2018091410574690000_10.5.a033134.61","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1001\/archneur.61.2.213","article-title":"When sporadic disease is not sporadic: The potential for genetic etiology","volume":"61","year":"2004","journal-title":"Arch Neurol"},{"key":"2018091410574690000_10.5.a033134.62","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0196-x"},{"key":"2018091410574690000_10.5.a033134.63","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1097\/WAD.0b013e3181ae3a76","article-title":"A case of dementia with PRNP D178Ncis-129M and no insomnia","volume":"23","year":"2009","journal-title":"Alzheimer Dis Assoc Disord"},{"key":"2018091410574690000_10.5.a033134.64","first-page":"2656.e13-6","article-title":"Nonsense mutation in PRNP associated with clinical Alzheimer\u2019s disease","volume":"35","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2018091410574690000_10.5.a033134.65","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1097\/MAJ.0b013e3181643e50","article-title":"A patient with Creutzfeldt\u2013Jakob disease with an insertion of 7 octa-repeats in the PRNP gene: Molecular characteristics and clinical features","volume":"336","year":"2008","journal-title":"Am J Med Sci"},{"key":"2018091410574690000_10.5.a033134.66","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.4.545"},{"key":"2018091410574690000_10.5.a033134.67","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1995.tb00596.x"},{"key":"2018091410574690000_10.5.a033134.68","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000156911.70131.06"},{"key":"2018091410574690000_10.5.a033134.69","first-page":"CS41","article-title":"Novel PRNP mutation in a patient with a slow progressive dementia syndrome","volume":"14","year":"2008","journal-title":"Med Sci Monit Intl Med J Exp Clin Res"},{"key":"2018091410574690000_10.5.a033134.70","doi-asserted-by":"crossref","first-page":"e60003","DOI":"10.1371\/journal.pone.0060003","article-title":"Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases","volume":"8","year":"2013","journal-title":"PLoS One"},{"key":"2018091410574690000_10.5.a033134.71","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2008.00964.x"},{"key":"2018091410574690000_10.5.a033134.72","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31820a0ab2"},{"key":"2018091410574690000_10.5.a033134.73","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0903807106"},{"key":"2018091410574690000_10.5.a033134.74","doi-asserted-by":"publisher","DOI":"10.1038\/338342a0"},{"key":"2018091410574690000_10.5.a033134.75","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199104183241604"},{"key":"2018091410574690000_10.5.a033134.76","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.5.681"},{"key":"2018091410574690000_10.5.a033134.77","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-68"},{"key":"2018091410574690000_10.5.a033134.78","doi-asserted-by":"publisher","DOI":"10.1007\/BF00593711"},{"key":"2018091410574690000_10.5.a033134.79","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0609-x"},{"key":"2018091410574690000_10.5.a033134.80","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0656-3"},{"key":"2018091410574690000_10.5.a033134.81","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036333"},{"key":"2018091410574690000_10.5.a033134.82","doi-asserted-by":"publisher","DOI":"10.1038\/nature15369"},{"key":"2018091410574690000_10.5.a033134.83","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22264"},{"key":"2018091410574690000_10.5.a033134.84","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000500"},{"key":"2018091410574690000_10.5.a033134.85","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr079"},{"key":"2018091410574690000_10.5.a033134.86","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-1-80"},{"key":"2018091410574690000_10.5.a033134.87","unstructured":"Kong Q , Surewicz WK , Petersen RB , Zou W , Chen SG , Gambetti P , Parchi P , Capellari S , Goldfarb L , Montagna P , 2004. Inherited prion diseases. In Prion biology and diseases (ed. Prusiner SB ), pp. 673\u2013775. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY."},{"key":"2018091410574690000_10.5.a033134.88","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2334-6-169"},{"key":"2018091410574690000_10.5.a033134.89","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.70.6.802"},{"key":"2018091410574690000_10.5.a033134.90","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0896-9"},{"key":"2018091410574690000_10.5.a033134.91","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0020-1"},{"key":"2018091410574690000_10.5.a033134.92","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0713-y"},{"key":"2018091410574690000_10.5.a033134.93","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(95)00175-R"},{"key":"2018091410574690000_10.5.a033134.94","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21358"},{"key":"2018091410574690000_10.5.a033134.95","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-305978"},{"key":"2018091410574690000_10.5.a033134.96","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10654-015-0049-y","article-title":"Clinical findings and diagnosis in genetic prion diseases in Germany","volume":"31","year":"2016","journal-title":"Eur J Epidemiol"},{"key":"2018091410574690000_10.5.a033134.97","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0208-x"},{"key":"2018091410574690000_10.5.a033134.98","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294264"},{"key":"2018091410574690000_10.5.a033134.99","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.187"},{"key":"2018091410574690000_10.5.a033134.100","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1511"},{"key":"2018091410574690000_10.5.a033134.101","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000160118.26865.11"},{"key":"2018091410574690000_10.5.a033134.102","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.6.1109"},{"key":"2018091410574690000_10.5.a033134.103","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.12.2375"},{"key":"2018091410574690000_10.5.a033134.104","doi-asserted-by":"publisher","DOI":"10.1086\/302340"},{"key":"2018091410574690000_10.5.a033134.105","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M510606200"},{"key":"2018091410574690000_10.5.a033134.106","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000065887.14609.0E"},{"key":"2018091410574690000_10.5.a033134.107","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2009.01236.x"},{"key":"2018091410574690000_10.5.a033134.108","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110197200"},{"key":"2018091410574690000_10.5.a033134.109","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198610163151605"},{"key":"2018091410574690000_10.5.a033134.110","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1111\/j.1399-0004.2012.01900.x","article-title":"Recommendations for the predictive genetic test in Huntington\u2019s disease","volume":"83","year":"2013","journal-title":"Clin Genet"},{"key":"2018091410574690000_10.5.a033134.111","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.01.005"},{"key":"2018091410574690000_10.5.a033134.112","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000048"},{"key":"2018091410574690000_10.5.a033134.113","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050212"},{"key":"2018091410574690000_10.5.a033134.114","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181cd7374"},{"key":"2018091410574690000_10.5.a033134.115","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.11.2042"},{"key":"2018091410574690000_10.5.a033134.116","doi-asserted-by":"publisher","DOI":"10.1002\/mds.24002"},{"key":"2018091410574690000_10.5.a033134.117","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12089"},{"key":"2018091410574690000_10.5.a033134.118","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.142976"},{"key":"2018091410574690000_10.5.a033134.119","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl226"},{"key":"2018091410574690000_10.5.a033134.120","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1212\/01.wnl.0000267642.41594.9d","article-title":"Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129","volume":"69","year":"2007","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.121","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr607"},{"key":"2018091410574690000_10.5.a033134.122","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1214747"},{"key":"2018091410574690000_10.5.a033134.123","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199202133260704"},{"key":"2018091410574690000_10.5.a033134.124","doi-asserted-by":"publisher","DOI":"10.1007\/BF02864269"},{"key":"2018091410574690000_10.5.a033134.125","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199707000-00001"},{"key":"2018091410574690000_10.5.a033134.126","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.09.003"},{"key":"2018091410574690000_10.5.a033134.127","first-page":"322ra329","article-title":"Quantifying prion disease penetrance using large population control cohorts","volume":"8","year":"2016","journal-title":"Sci Transl Med"},{"key":"2018091410574690000_10.5.a033134.128","first-page":"31","article-title":"Creutzfeldt\u2013Jakob disease with E200K mutation in Slovakia: Characterization and development","volume":"46","year":"2002","journal-title":"Acta Virol"},{"key":"2018091410574690000_10.5.a033134.129","doi-asserted-by":"publisher","DOI":"10.1086\/324414"},{"key":"2018091410574690000_10.5.a033134.130","doi-asserted-by":"publisher","DOI":"10.1110\/ps.051822606"},{"key":"2018091410574690000_10.5.a033134.131","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3006767"},{"key":"2018091410574690000_10.5.a033134.132","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6588-1"},{"key":"2018091410574690000_10.5.a033134.133","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880151103"},{"key":"2018091410574690000_10.5.a033134.134","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000144196.43430.E1"},{"key":"2018091410574690000_10.5.a033134.135","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420203"},{"key":"2018091410574690000_10.5.a033134.136","first-page":"670","article-title":"The PRNP-V180I mutation is associated with abnormally glycosylated PrPCJD and intracellular PrP accumulations. Presented at XIVth International Congress of Neuropathology Scientific Programme","volume":"10","year":"2000","journal-title":"Brain Pathol"},{"key":"2018091410574690000_10.5.a033134.137","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq216"},{"key":"2018091410574690000_10.5.a033134.138","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)95342-0"},{"key":"2018091410574690000_10.5.a033134.139","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(90)90038-F"},{"key":"2018091410574690000_10.5.a033134.140","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(92)90056-H"},{"key":"2018091410574690000_10.5.a033134.141","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.5.1491"},{"key":"2018091410574690000_10.5.a033134.142","doi-asserted-by":"publisher","DOI":"10.1038\/352340a0"},{"key":"2018091410574690000_10.5.a033134.143","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.5.541"},{"key":"2018091410574690000_10.5.a033134.144","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.23.10962"},{"key":"2018091410574690000_10.5.a033134.145","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1899"},{"key":"2018091410574690000_10.5.a033134.146","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380107"},{"key":"2018091410574690000_10.5.a033134.147","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390613"},{"key":"2018091410574690000_10.5.a033134.148","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W"},{"key":"2018091410574690000_10.5.a033134.149","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0585-1"},{"key":"2018091410574690000_10.5.a033134.150","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61254-0"},{"key":"2018091410574690000_10.5.a033134.151","doi-asserted-by":"crossref","first-page":"501","DOI":"10.4161\/pri.27260","article-title":"Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation","volume":"7","year":"2013","journal-title":"Prion"},{"key":"2018091410574690000_10.5.a033134.152","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<482::AID-HUMU16>3.0.CO;2-1","article-title":"Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt\u2013Jakob disease phenotype","volume":"15","year":"2000","journal-title":"Hum Mutat"},{"key":"2018091410574690000_10.5.a033134.153","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds377"},{"key":"2018091410574690000_10.5.a033134.154","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199810000-00010"},{"key":"2018091410574690000_10.5.a033134.155","doi-asserted-by":"crossref","first-page":"e60376","DOI":"10.1371\/journal.pone.0060376","article-title":"Age at death of Creutzfeldt\u2013Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene","volume":"8","year":"2013","journal-title":"PLoS One"},{"key":"2018091410574690000_10.5.a033134.156","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2010.00439.x"},{"key":"2018091410574690000_10.5.a033134.157","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.19.11980"},{"key":"2018091410574690000_10.5.a033134.158","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.23.13363"},{"key":"2018091410574690000_10.5.a033134.159","doi-asserted-by":"publisher","DOI":"10.1126\/science.1222951"},{"key":"2018091410574690000_10.5.a033134.160","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-110711-155524"},{"key":"2018091410574690000_10.5.a033134.161","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/1531-8249(200008)48:2<269::AID-ANA24>3.0.CO;2-V","article-title":"Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt\u2013Jakob disease linked to E200K mutation","volume":"48","year":"2000","journal-title":"Ann Neurol"},{"key":"2018091410574690000_10.5.a033134.162","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70063-7"},{"key":"2018091410574690000_10.5.a033134.163","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2014-004968"},{"key":"2018091410574690000_10.5.a033134.164","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.6.1068"},{"key":"2018091410574690000_10.5.a033134.165","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000158618.39527.93"},{"key":"2018091410574690000_10.5.a033134.166","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-004-0978-0"},{"key":"2018091410574690000_10.5.a033134.167","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002147"},{"key":"2018091410574690000_10.5.a033134.168","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.7.1016"},{"key":"2018091410574690000_10.5.a033134.169","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1212\/WNL.53.6.1328","article-title":"Preliminary evidence for anticipation in genetic E200K Creutzfeldt\u2013Jakob disease","volume":"53","year":"1999","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.170","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.3.405"},{"key":"2018091410574690000_10.5.a033134.171","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256819.61531.98"},{"key":"2018091410574690000_10.5.a033134.172","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr358"},{"key":"2018091410574690000_10.5.a033134.173","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0054915"},{"key":"2018091410574690000_10.5.a033134.174","first-page":"756.e1-9","article-title":"Genetic prion disease with codon 196 PRNP mutation: Clinical and pathological findings","volume":"32","year":"2011","journal-title":"Neurobiol Aging"},{"key":"2018091410574690000_10.5.a033134.175","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-016-9918-y"},{"key":"2018091410574690000_10.5.a033134.176","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0139552"},{"key":"2018091410574690000_10.5.a033134.177","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-007-0540-9"},{"key":"2018091410574690000_10.5.a033134.178","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1007\/s00415-002-0907-x","article-title":"Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation","volume":"249","year":"2002","journal-title":"J Neurol"},{"key":"2018091410574690000_10.5.a033134.179","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1001\/jamaneurol.2013.165","article-title":"Unusual clinical and molecular-pathological profile of Gerstmann\u2013Str\u00e4ussler\u2013Scheinker disease associated with a novel PRNP mutation (V176G)","volume":"70","year":"2013","journal-title":"JAMA Neurol"},{"key":"2018091410574690000_10.5.a033134.180","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<693::AID-ANA3>3.0.CO;2-Z"},{"key":"2018091410574690000_10.5.a033134.181","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2010.11.001"},{"key":"2018091410574690000_10.5.a033134.182","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1007\/BF03401601","article-title":"Complete penetrance of Creutzfeldt\u2013Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene","volume":"1","year":"1995","journal-title":"Mol Med"},{"key":"2018091410574690000_10.5.a033134.183","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1000390"},{"key":"2018091410574690000_10.5.a033134.184","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/ajmg.b.32505","article-title":"Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature","volume":"174","year":"2017","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"2018091410574690000_10.5.a033134.185","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.68.3.388"},{"key":"2018091410574690000_10.5.a033134.186","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181ffc39c"},{"key":"2018091410574690000_10.5.a033134.187","first-page":"1306","article-title":"[Recent advances in the research of Creutzfeldt\u2013Jakob disease (CJD) and Gerstmann-Str\u00e4ussler syndrome (GSS)]","volume":"31","year":"1991","journal-title":"Rinsho Shinkeigaku"},{"key":"2018091410574690000_10.5.a033134.188","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1578"},{"key":"2018091410574690000_10.5.a033134.189","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1097\/NEN.0000000000000228","article-title":"Prion disease induces Alzheimer disease-like neuropathologic changes","volume":"74","year":"2015","journal-title":"J Neuropathol Exp Neurol"},{"key":"2018091410574690000_10.5.a033134.190","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.55.3.185"},{"key":"2018091410574690000_10.5.a033134.191","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000330237.94742.fa"},{"key":"2018091410574690000_10.5.a033134.192","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1001\/jamaneurol.2013.5884","article-title":"Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene","volume":"71","year":"2014","journal-title":"JAMA Neurol"},{"key":"2018091410574690000_10.5.a033134.193","unstructured":"UK National CJD Surveillance Unit. 2015. Variant Creutzfeldt\u2013Jakob disease worldwide current data (April 2015). Western General Hospital, Edinburgh, Scotland."},{"key":"2018091410574690000_10.5.a033134.194","doi-asserted-by":"publisher","DOI":"10.1007\/BF00868397"},{"key":"2018091410574690000_10.5.a033134.195","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1212\/WNL.55.7.1055","article-title":"A new mutation in the prion protein gene: A patient with dementia and white matter changes","volume":"55","year":"2000","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.196","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7078-9"},{"key":"2018091410574690000_10.5.a033134.197","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2990.1998.00098.x"},{"key":"2018091410574690000_10.5.a033134.198","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821a4439"},{"key":"2018091410574690000_10.5.a033134.199","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.09433"},{"key":"2018091410574690000_10.5.a033134.200","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/ana.24463","article-title":"Modulation of Creutzfeldt\u2013Jakob disease prion propagation by the A224V mutation","volume":"78","year":"2015","journal-title":"Ann Neurol"},{"key":"2018091410574690000_10.5.a033134.201","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn202"},{"key":"2018091410574690000_10.5.a033134.202","unstructured":"WHO. 1998. Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: Report of a WHO consultation Geneva, Switzerland 9\u201311 February 1998. In World Health Organization: Emerging and other communicable diseases, surveillance and control. World Health Organization, Geneva."},{"key":"2018091410574690000_10.5.a033134.203","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a024364"},{"key":"2018091410574690000_10.5.a033134.204","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051096"},{"key":"2018091410574690000_10.5.a033134.205","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1513426112"},{"key":"2018091410574690000_10.5.a033134.206","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-005-1054-0"},{"key":"2018091410574690000_10.5.a033134.207","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.1.181"},{"key":"2018091410574690000_10.5.a033134.208","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.3346\/jkms.2010.25.7.1097","article-title":"Familial Creutzfeldt\u2013Jakob disease with V180I mutation","volume":"25","year":"2010","journal-title":"J Korean Med Sci"},{"key":"2018091410574690000_10.5.a033134.209","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1186\/1752-1947-2-331","article-title":"Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: A case series","volume":"2","year":"2008","journal-title":"J Med Case Rep"},{"key":"2018091410574690000_10.5.a033134.210","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201245"},{"key":"2018091410574690000_10.5.a033134.211","doi-asserted-by":"publisher","DOI":"10.3390\/v4113109"},{"key":"2018091410574690000_10.5.a033134.212","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.056606"},{"key":"2018091410574690000_10.5.a033134.213","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1212\/WNL.51.5.1398","article-title":"Phenotypic variability in fatal familial insomnia (D178N-129M) genotype","volume":"51","year":"1998","journal-title":"Neurology"},{"key":"2018091410574690000_10.5.a033134.214","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp191"},{"key":"2018091410574690000_10.5.a033134.215","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1002\/ajmg.b.30761","article-title":"PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China","volume":"147B","year":"2008","journal-title":"Am J Med Genet B Neuropsychiatr Genet"}],"container-title":["Cold Spring Harbor Perspectives in Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/cshperspect.a033134","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T00:36:07Z","timestamp":1719362167000},"score":1,"resource":{"primary":{"URL":"http:\/\/cshperspectives.cshlp.org\/lookup\/doi\/10.1101\/cshperspect.a033134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,4]]},"references-count":215,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2018,5,1]]},"published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1101\/cshperspect.a033134"],"URL":"https:\/\/doi.org\/10.1101\/cshperspect.a033134","relation":{},"ISSN":["1943-0264"],"issn-type":[{"value":"1943-0264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,4]]}}}