{"doi":"10.1093/braincomms/fcae375","title":"Plasma phosphorylated-tau217 is increased in Niemann–Pick disease type C","abstract":"Abstract Niemann–Pick disease type C and Alzheimer’s disease are distinct neurodegenerative disorders that share the presence of neurofibrillary tangle pathology. In this multicentre study, we measured plasma phosphorylated-tau217 in controls (n = 60), Niemann–Pick disease type C (n = 71) and Alzheimer’s disease (n = 30 positive for amyloid and negative for tau in CSF [A+T−] and n = 30 positive for both [A+T+]). Annual Severity Increment Score and Lysotracker measurements were evaluated in the Niemann–Pick disease type C group to estimate the rate of progression and lysosomal enlargement, respectively. In the cross-sectional analysis, plasma phosphorylated-tau217 was increased in Niemann–Pick disease type C compared with controls (2.52 ± 1.93 versus 1.02 ± 0.34 pg/mL, respectively, P < 0.001) and inversely correlated with age at disease onset (R = −0.54, P < 0.001). In the longitudinal analysis, plasma phosphorylated-tau217 was associated with disease progression determined by Annual Severity Increment Score (R = 0.48, P < 0.001) and lysosomal enlargement (R = 0.26, P = 0.004). We found no differences between A+T− Alzheimer’s disease and Niemann–Pick disease type C (2.67 ± 1.18 versus 2.52 ± 1. 93 pg/mL, P = 0.31); however, A+T+ Alzheimer’s disease had significantly higher levels than Niemann–Pick disease type C (3.26 ± 1.36 versus 2.52 ± 1.93 pg/mL, P = 0.001). Our findings suggest that plasma p-tau217 can increase in brain disorders with isolated tau pathology. Plasma p-tau217 associations with disease progression and severity make it a potential marker in Niemann–Pick disease type C.","journal":"Brain Communications","year":2024,"id":432505,"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":15,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.951,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":241105,"name":"Thomas K. Karikari","orcid":"0000-0003-1422-4358","position":1,"is_corresponding":false},{"id":668051,"name":"Daniëlle te Vruchte","orcid":"0000-0002-1709-1709","position":2,"is_corresponding":false},{"id":1237501,"name":"Dawn Shepherd","orcid":"0000-0003-1304-6051","position":3,"is_corresponding":false},{"id":1202526,"name":"Bjørn‐Eivind Kirsebom","orcid":"0000-0002-1413-9578","position":4,"is_corresponding":false},{"id":552026,"name":"Tormod Fladby","orcid":"0000-0002-9984-9797","position":5,"is_corresponding":false},{"id":471315,"name":"Frances M. Platt","orcid":"0000-0001-7614-0403","position":6,"is_corresponding":false},{"id":27600,"name":"Kaj Blennow","orcid":"0000-0002-1890-4193","position":7,"is_corresponding":false},{"id":839573,"name":"Fernando González‐Ortiz","orcid":"0000-0001-7897-9456","position":0,"is_corresponding":true}],"reference_count":42,"raw_metadata":null,"created_at":"2026-07-19T01:59:39.937122Z","pmid":"39502943","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":[]}