{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:09:17Z","timestamp":1790467757973,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,17]],"date-time":"2015-12-17T00:00:00Z","timestamp":1450310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Scientific Research (B)","award":["2529320216"],"award-info":[{"award-number":["2529320216"]}]},{"name":"Scientific Research (C)","award":["25430050"],"award-info":[{"award-number":["25430050"]}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Science, Culture and Sports of Japan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Research Committee of Prion Diseases"},{"name":"Ministry of Health, Labour and Welfare of Japan"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>A novel TYPE of prion disease associated mainly with autonomic\u2010sensory polyneuropathy was reported by us previously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here the autopsy pathology for patient 1 (the sister) and the clinical characteristics of her younger brother (patient 2) are newly reported. Polymerase chain reaction based restriction fragment length polymorphism analysis of the prion protein gene (<jats:italic><jats:styled-content style=\"fixed-case\">PRNP<\/jats:styled-content><\/jats:italic>) was performed on both patients and their father (normal control).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Polymerase chain reaction based restriction fragment length polymorphism analysis revealed a 2\u2010bp deletion (<jats:styled-content style=\"fixed-case\">CT<\/jats:styled-content>) in codon 178 that causes an additional variable 25 amino acids at the C terminal, from the mutation site to the premature stop codon at codon 203, in both patients 1 and 2 but not in their father. The autopsy of patient 1 showed remarkable prion protein (PrP) deposits in the sympathetic ganglion and peripheral nerves, correlated to her severe autonomic sensory failure. PrP deposits were also found in the central nervous system and peripheral organs such as the heart, lung, stomach, jejunum, ileum, colon, urinary bladder and adrenal gland. The symptoms and biopsy findings of patient 2 were nearly the same as those reported previously for patient 1. His cognitive function was well preserved, but autonomic functions were severely impaired. His biopsied samples showed PrP deposits in the sural nerve and nerve plexuses of the stomach and colon.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present unique 2\u2010bp deletion (<jats:styled-content style=\"fixed-case\">CT<\/jats:styled-content>) in codon 178 induced a \u2018PrP systemic deposition disease\u2019 such as pan\u2010autonomic failure, sensory neuropathy and mild cognitive impairment with a specific pathology.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12905","type":"journal-article","created":{"date-parts":[[2015,12,22]],"date-time":"2015-12-22T04:16:53Z","timestamp":1450757813000},"page":"196-200","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["\u2018PrP systemic deposition disease\u2019: clinical and pathological characteristics of novel familial prion disease with 2\u2010bp deletion in codon 178"],"prefix":"10.1111","volume":"23","author":[{"given":"K.","family":"Matsuzono","sequence":"first","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Honda","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Graduate School of Medical Sciences Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Morihara","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Deguchi","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Hishikawa","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kono","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Iwaki","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Graduate School of Medical Sciences Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Neurology Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Science Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,12,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12089"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1214747"},{"key":"e_1_2_7_4_1","first-page":"127","article-title":"Prion disease associated with diarrhea and autonomic neuropathy: phenotypic and genetic characterisation of an Italian family","volume":"8","author":"Capellari S","year":"2014","journal-title":"Prion"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2014.263"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199202133260704"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.12905","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.12905","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T05:45:24Z","timestamp":1696225524000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.12905"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,17]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1111\/ene.12905"],"URL":"https:\/\/doi.org\/10.1111\/ene.12905","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,17]]},"assertion":[{"value":"2015-06-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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