{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T12:25:31Z","timestamp":1780143931548,"version":"3.54.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,3,29]],"date-time":"2023-03-29T00:00:00Z","timestamp":1680048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,3,29]],"date-time":"2023-03-29T00:00:00Z","timestamp":1680048000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"The Research Committee of Prion Disease Surveillance, the Ministry of Health, Labor and Welfare of Japan"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases. In the present study, we found a 5-octapeptide repeat insertion (5-OPRI) in a sibling case of frontotemporal dementia. Consistent with previous literature, 5-OPRI rarely met the diagnostic criteria for Creutzfeldt\u2012Jakob disease (CJD). We propose 5-OPRI as a suspected causative mutation for early-onset dementia, especially the frontotemporal type.<\/jats:p>","DOI":"10.1038\/s41439-023-00237-w","type":"journal-article","created":{"date-parts":[[2023,3,29]],"date-time":"2023-03-29T03:30:56Z","timestamp":1680060656000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Creutzfeldt\u2012Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia"],"prefix":"10.1038","volume":"10","author":[{"given":"Shinsuke","family":"Hamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0919-8071","authenticated-orcid":false,"given":"Ikuko","family":"Takahashi-Iwata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuya","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuyuki","family":"Kitamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehiro","family":"Mizusawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Moriwaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1734-7997","authenticated-orcid":false,"given":"Ichiro","family":"Yabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,29]]},"reference":[{"key":"237_CR1","doi-asserted-by":"publisher","first-page":"10926","DOI":"10.1073\/pnas.88.23.10926","volume":"88","author":"LG Goldfarb","year":"1991","unstructured":"Goldfarb, L. G. et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc. Natl. Acad. Sci. USA 88, 10926\u201310930 (1991).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"237_CR2","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/j.bbrc.2009.03.093","volume":"382","author":"C Hiraga","year":"2009","unstructured":"Hiraga, C., Kobayashi, A. & Kitamoto, T. The number of octapeptide repeat affects the expression and conversion of prion protein. Biochem. Biophys. Res. Commun. 382, 715\u2013719 (2009).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"237_CR3","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1212\/WNL.47.3.727","volume":"47","author":"EJ Cochran","year":"1996","unstructured":"Cochran, E. J. et al. Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. Neurology 47, 727\u2013733 (1996).","journal-title":"Neurology"},{"key":"237_CR4","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1002\/1531-8249(199911)46:5<693::AID-ANA3>3.0.CO;2-Z","volume":"46","author":"KH Skworc","year":"1999","unstructured":"Skworc, K. H. et al. Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. Ann. Neurol. 46, 693\u2013700 (1999).","journal-title":"Ann. Neurol."},{"key":"237_CR5","doi-asserted-by":"publisher","first-page":"756","DOI":"10.1136\/jnnp.2004.048553","volume":"76","author":"G Beck","year":"2005","unstructured":"Beck, G. et al. A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan. J. Neurol. Neurosurg. Psychiatry 76, 756\u2013757 (2005).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"237_CR6","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1212\/01.wnl.0000267642.41594.9d","volume":"69","author":"S Mead","year":"2007","unstructured":"Mead, S. et al. Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129. Neurology 69, 730\u2013738 (2007).","journal-title":"Neurology"},{"key":"237_CR7","doi-asserted-by":"publisher","first-page":"1386","DOI":"10.1136\/jnnp.2008.169359","volume":"80","author":"C Jansen","year":"2009","unstructured":"Jansen, C. et al. Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology. J. Neurol. Neurosurg. Psychiatry 80, 1386\u20131389 (2009).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"237_CR8","doi-asserted-by":"publisher","first-page":"2456","DOI":"10.1093\/brain\/awr179","volume":"134","author":"K Rascovsky","year":"2011","unstructured":"Rascovsky, K. et al. Sensitivity of revised diagnostic criteria for the behavioral variant of frontotemporal dementia. Brain 134, 2456\u20132477 (2011).","journal-title":"Brain"}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41439-023-00237-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-023-00237-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-023-00237-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T11:07:32Z","timestamp":1704884852000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41439-023-00237-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,29]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["237"],"URL":"https:\/\/doi.org\/10.1038\/s41439-023-00237-w","relation":{},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,29]]},"assertion":[{"value":"19 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 February 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 February 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 March 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"K.S., T.K., H.M., F.M., and I.Y. received a grant-in-aid from the Research Committee of Prion Disease Surveillance, Ministry of Health, Labor and Welfare of Japan. The other authors declare that they have no conflicts of interest to disclose.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"10"}}