{"doi":"10.1038/s41598-020-58446-0","title":"Co-existence of PrPD types 1 and 2 in sporadic Creutzfeldt-Jakob disease of the VV subgroup: phenotypic and prion protein characteristics","abstract":"Abstract We report a detailed study of a cohort of sporadic Creutzfeldt-Jakob disease (sCJD) VV1–2 type-mixed cases (valine homozygosity at codon 129 of the prion protein, PrP, gene harboring disease-related PrP, PrP D , types 1 and 2). Overall, sCJDVV1–2 subjects showed mixed clinical and histopathological features, which often correlated with the relative amounts of the corresponding PrP D type. However, type-specific phenotypic characteristics were only detected when the amount of the corresponding PrP D type exceeded 20–25%. Overall, original features of types 1 (T1) and 2 (T2) in sCJDVV1 and -VV2, including rostrocaudal relative distribution and conformational indicators, were maintained in sCJDVV1–2 except for one of the two components of T1 identified by electrophoretic mobility as T1 21 . The T1 21 conformational characteristics shifted in the presence of T2, inferring a conformational effect of PrP D T2 on T1 21 . The prevalence of sCJDVV1–2 was 23% or 57% of all sCJDVV cases, depending on whether standard or highly sensitive type-detecting procedures were adopted. This study, together with previous data from sCJDMM1–2 (methionine homozygosity at PrP gene codon 129) establishes the type-mixed sCJD variants as an important component of sCJD, which cannot be identified with current non-tissue based diagnostic tests of prion disease.","journal":"Scientific Reports","year":2020,"id":61295,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":57,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9483,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":323722,"name":"Gianfranco Puoti","orcid":"0000-0002-6452-2321","position":1,"is_corresponding":false},{"id":323723,"name":"Jason Smucny","orcid":"0000-0001-5656-7987","position":2,"is_corresponding":false},{"id":324797,"name":"Paul Michael Curtiss","orcid":null,"position":3,"is_corresponding":false},{"id":323724,"name":"Laura Cracco","orcid":"0000-0001-7693-0202","position":4,"is_corresponding":false},{"id":323725,"name":"Tetsuyuki Kitamoto","orcid":"0000-0002-6298-2439","position":5,"is_corresponding":false},{"id":323726,"name":"Rossana Occhipinti","orcid":"0000-0002-0519-7725","position":6,"is_corresponding":false},{"id":318446,"name":"Mark L. Cohen","orcid":"0000-0002-9678-5521","position":7,"is_corresponding":false},{"id":253909,"name":"Brian S. Appleby","orcid":"0000-0003-2275-3292","position":8,"is_corresponding":false},{"id":300802,"name":"Pierluigi Gambetti","orcid":"0000-0002-9843-5162","position":9,"is_corresponding":false},{"id":323721,"name":"Ignazio Calì","orcid":"0000-0001-5770-3848","position":0,"is_corresponding":true}],"reference_count":20,"raw_metadata":null,"created_at":"2026-07-18T21:09:27.985420Z","pmid":"32001774","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}