{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T07:57:40Z","timestamp":1780991860195,"version":"3.54.1"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1007\/s10072-026-09128-8","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:23:23Z","timestamp":1779755003000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Creutzfeldt\u2013Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review"],"prefix":"10.1007","volume":"47","author":[{"given":"Qiang","family":"Geng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianing","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinglei","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3722-2910","authenticated-orcid":false,"given":"Zhongyun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,26]]},"reference":[{"issue":"1","key":"9128_CR1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/ajmg.b.32505","volume":"174","author":"LT Takada","year":"2017","unstructured":"Takada LT, Kim MO, Cleveland RW et al (2017) Genetic prion disease: experience of a rapidly progressive dementia center in the United States and a review of the literature. Am J Med Genet B Neuropsychiatr Genet 174(1):36\u201369","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"9128_CR2","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1146\/annurev.mi.48.100194.003255","volume":"48","author":"SB Prusiner","year":"1994","unstructured":"Prusiner SB (1994) Biology and genetics of prion diseases. Annu Rev Microbiol 48:655\u2013686","journal-title":"Annu Rev Microbiol"},{"issue":"5","key":"9128_CR3","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1093\/hmg\/2.5.541","volume":"2","author":"MS Palmer","year":"1993","unstructured":"Palmer MS, Mahal SP, Campbell TA et al (1993) Deletions in the prion protein gene are not associated with CJD. Hum Mol Genet 2(5):541\u20134","journal-title":"Hum Mol Genet"},{"issue":"1","key":"9128_CR4","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/S0272-2712(02)00065-3","volume":"23","author":"P Gambetti","year":"2003","unstructured":"Gambetti P, Parchi P, Chen SG (2003) Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia. Clin Lab Med 23(1):43\u201364","journal-title":"Clin Lab Med"},{"issue":"23","key":"9128_CR5","doi-asserted-by":"publisher","first-page":"10926","DOI":"10.1073\/pnas.88.23.10926","volume":"88","author":"LG Goldfarb","year":"1991","unstructured":"Goldfarb LG, Brown P, McCombie WR et al (1991) Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci U S A 88(23):10926\u201330","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"8","key":"9128_CR6","doi-asserted-by":"publisher","first-page":"1166","DOI":"10.1136\/jnnp.2003.020198","volume":"75","author":"EA Croes","year":"2004","unstructured":"Croes EA, Theuns J, Houwing-Duistermaat JJ (2004) Octapeptide repeat insertions in the prion protein gene and early onset dementia. J Neurol Neurosurg Psychiatry 75(8):1166\u201370","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"9128_CR7","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a033134","volume":"10","author":"MO Kim","year":"2018","unstructured":"Kim MO, Takada LT, Wong K, Forner SA, Geschwind MD (2018) Genetic PrP prion diseases. Cold Spring Harb Perspect Biol 10(5):a033134","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"3","key":"9128_CR8","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1097\/WAD.0b013e318231e449","volume":"26","author":"R Depaz","year":"2012","unstructured":"Depaz R, Haik S, Peoc\u2019h K et al (2012) Long-standing prion dementia manifesting as posterior cortical atrophy. Alzheimer Dis Assoc Disord 26(3):289\u201392","journal-title":"Alzheimer Dis Assoc Disord"},{"issue":"3","key":"9128_CR9","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1212\/WNL.47.3.727","volume":"47","author":"EJ Cochran","year":"1996","unstructured":"Cochran EJ, Bennett DA, Cerven\u00e1kov\u00e1 L et al (1996) Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. Neurology 47(3):727\u201333","journal-title":"Neurology"},{"issue":"5","key":"9128_CR10","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 KH, Windl O, Schulz-Schaeffer WJ et al (1999) Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. Ann Neurol 46(5):693\u2013700","journal-title":"Ann Neurol"},{"issue":"5","key":"9128_CR11","doi-asserted-by":"publisher","first-page":"756","DOI":"10.1136\/jnnp.2004.048553","volume":"76","author":"G Beck","year":"2005","unstructured":"Beck G, Kawano T, Naba I, Nishimura T, Sawada J, Hazama T (2005) A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan. J Neurol Neurosurg Psychiatry 76(5):756\u20137","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"8","key":"9128_CR12","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, Webb TE, Campbell TA et al (2007) Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129. Neurology 69(8):730\u20138","journal-title":"Neurology"},{"issue":"12","key":"9128_CR13","doi-asserted-by":"publisher","first-page":"1386","DOI":"10.1136\/jnnp.2008.169359","volume":"80","author":"C Jansen","year":"2009","unstructured":"Jansen C, van Swieten JC, Capellari S, Strammiello R, Parchi P, Rozemuller AJ (2009) Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology. J Neurol Neurosurg Psychiatry 80(12):1386\u20139","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"18","key":"9128_CR14","doi-asserted-by":"publisher","first-page":"2769","DOI":"10.2169\/internalmedicine.5143-24","volume":"64","author":"M Nishikawa","year":"2025","unstructured":"Nishikawa M, Takeda A, Miyazawa N et al (2025) Inherited prion disease with a 5-octapeptide repeat insertion in the PRNP gene presenting with familial juvenile dementia. Intern Med 64(18):2769\u20132773","journal-title":"Intern Med"},{"issue":"supp_S1","key":"9128_CR15","doi-asserted-by":"publisher","first-page":"e334","DOI":"10.1016\/j.jns.2013.07.1239","volume":"333","author":"K McKnight","year":"2013","unstructured":"McKnight K, Herron B, Turkington J et al (2013) Inherited prion disease due to 5-octapeptide repeat insertion. J Neurol Sci 333(supp_S1):e334\u2013e335","journal-title":"J Neurol Sci"},{"issue":"3","key":"9128_CR16","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1111\/cge.14354","volume":"104","author":"H Nan","year":"2023","unstructured":"Nan H, Liu L, Chen Z et al (2023) Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer\u2019s disease and frontotemporal dementia. Clin Genet 104(3):350\u2013355","journal-title":"Clin Genet"},{"issue":"1","key":"9128_CR17","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/s41439-023-00237-w","volume":"10","author":"S Hamada","year":"2023","unstructured":"Hamada S, Takahashi-Iwata I, Satoh K et al (2023) Genetic Creutzfeldt\u2013Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia. Hum Genome Var 10(1):10","journal-title":"Hum Genome Var"},{"issue":"1","key":"9128_CR18","doi-asserted-by":"publisher","DOI":"10.1186\/s13195-022-01033-4","volume":"14","author":"Z Chen","year":"2022","unstructured":"Chen Z, Chu M, Liu L et al (2022) Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge. Alzheimers Res Ther 14(1):90","journal-title":"Alzheimers Res Ther"},{"key":"9128_CR19","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s00401-021-02350-y","volume":"142","author":"S Baiardi","year":"2021","unstructured":"Baiardi S, Rossi M, Mammana A et al (2021) Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification. Acta Neuropathol 142:707\u2013728","journal-title":"Acta Neuropathol"},{"issue":"3","key":"9128_CR20","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/S1474-4422(20)30477-4","volume":"20","author":"P Hermann","year":"2021","unstructured":"Hermann P, Appleby B, Brandel JP et al (2021) Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol 20(3):235\u2013246","journal-title":"Lancet Neurol"},{"issue":"5","key":"9128_CR21","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.3390\/neurolint16050079","volume":"16","author":"MC Jurcau","year":"2024","unstructured":"Jurcau MC, Jurcau A, Diaconu RG, Hogea VO, Nunkoo VS (2024) A systematic review of Sporadic Creutzfeldt-Jakob disease: pathogenesis, diagnosis, and therapeutic attempts. Neurol Int 16(5):1039\u20131065","journal-title":"Neurol Int"},{"key":"9128_CR22","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/s00415-023-11968-9","volume":"271","author":"A Van den Broecke","year":"2024","unstructured":"Van den Broecke A, Decruyenaere A, Schuermans N et al (2024) Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP). J Neurol 271:263\u2013273","journal-title":"J Neurol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09128-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09128-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09128-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T07:06:17Z","timestamp":1780988777000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-026-09128-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,26]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["9128"],"URL":"https:\/\/doi.org\/10.1007\/s10072-026-09128-8","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,26]]},"assertion":[{"value":"17 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 May 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethics Committees of the Xuanwu Hospital of Capital Medical University, and it was carried out in compliance with the Declaration of Helsinki\u2019s principles.Written informed consent for the publication of the report was obtained from the patient\u2019s wife, following the patient\u2019s death.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors have no conflicts of interest to declare.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->Conflicts of interest"}}],"article-number":"522"}}