{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T14:27:30Z","timestamp":1781188050806,"version":"3.54.1"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T00:00:00Z","timestamp":1499904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>A 78\u2010year\u2010old Japanese woman presented with slow progressive disorientation and memory disturbances. Pathological laughing was observed at an early disease stage and continued for several months. Around the same time, the patient began to exhibit an exaggerated startle reaction and mild myoclonus. The pathological laughing and startle reaction disappeared before the patient reached an akinetic mutism state approximately 16\u00a0months after symptom onset. MRI showed extensive hyperintensity of the cerebral cortex and striatum on diffusion\u2010weighted images, and swelling in the cerebral cortex on T2\u2010weighted and fluid attenuated inversion recovery images. A prion protein (PrP) gene analysis revealed a V180I mutation with methionine homozygosity at codon 129. Neuropathological examination showed extensive spongiform changes with characteristic various\u2010sized and non\u2010confluent (VaSNoC) vacuoles in the cerebral neocortex and striatum. Gliosis and hypertrophic astrocytosis were generally mild in character. Neurons were relatively preserved in number. We believe that pathological laughing and an exaggerated startle reaction are possible pathognomonic findings of V180I genetic Creutzfeldt\u2010Jakob disease. Based on the pathological findings of the present case, the presence of the VaSNoC\u2010type spongiform changes with relative preservation of the neurons in the cerebral cortex and a lack of apparent brainstem involvement are associated at least in part with the pathological laughing and startle reaction.<\/jats:p>","DOI":"10.1111\/neup.12399","type":"journal-article","created":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T12:40:39Z","timestamp":1499949639000},"page":"575-581","source":"Crossref","is-referenced-by-count":11,"title":["An autopsy case of Creutzfeldt\u2010Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0059-3104","authenticated-orcid":false,"given":"Yasushi","family":"Iwasaki","sequence":"first","affiliation":[{"name":"Department of Neuropathology, Institute for Medical Science of Aging Aichi Medical University  Nagakute Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Neurology Oyamada Memorial Spa Hospital  Yokkaichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masumi","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Neurology Oyamada Memorial Spa Hospital  Yokkaichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akio","family":"Akagi","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute for Medical Science of Aging Aichi Medical University  Nagakute Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Mimuro","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute for Medical Science of Aging Aichi Medical University  Nagakute Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuyuki","family":"Kitamoto","sequence":"additional","affiliation":[{"name":"Department of Neurological Science Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute for Medical Science of Aging Aichi Medical University  Nagakute Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12355"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/66.1.213"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0020-1"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.04.011"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-006-0111-7"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.10.026"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq216"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.05.023"},{"key":"e_1_2_8_10_1","first-page":"800","article-title":"Clinicopathological characteristics of Creutzfeldt\u2013Jakob disease with a PrP V180I mutation and M129V polymorphism on different alleles","volume":"39","author":"Iwasaki Y","year":"1999","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01192.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/353801b0"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308809"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-006-0127-z"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.4.479"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1791"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0910-3"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00422-012-0485-7"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-52014-2.00032-X"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.2009.21.1.75"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.4065\/81.11.1482"},{"key":"e_1_2_8_22_1","volume-title":"Handbook of Clinical Neurology 3","author":"Poeck K","year":"1969"},{"key":"e_1_2_8_23_1","first-page":"302","article-title":"Spasmodic laughter caused by unilateral involvement of the brain stem","volume":"150","author":"Mouton P","year":"1994","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000106954.54011.80"},{"key":"e_1_2_8_25_1","first-page":"75","article-title":"An autopsied case of MM1 + MM2\u2010cortical with thalamic\u2010type sporadic Creutzfeldt\u2010Jakob disease presenting with hyperintensities on diffusion\u2010weighted MRI before clinical onset","volume":"37","author":"Iwasaki Y","year":"2016","journal-title":"Neuropathology"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fneup.12399","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T16:57:59Z","timestamp":1696006679000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.12399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,13]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/neup.12399"],"URL":"https:\/\/doi.org\/10.1111\/neup.12399","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,13]]}}}