{"doi":"10.1002/alz.12248","title":"Associations between plasma neurofilament light, in vivo brain pathology, and cognition in non‐demented individuals with autosomal‐dominant Alzheimer's disease","abstract":"BACKGROUND: Neurofilament light (NfL) is a promising biomarker of early neurodegeneration in Alzheimer's disease (AD). We examined whether plasma NfL was associated with in vivo amyloid beta and tau, and cognitive performance in non-demented presenilin-1 (PSEN1) E280A mutation carriers. METHODS: Twenty-five mutation carriers and 19 non-carriers (age range: 28 to 49 years) were included in this study. Participants underwent 11C Pittsburgh compound B (PiB)-PET (positron emission tomography), flortaucipir-PET, blood sampling, and cognitive testing. RESULTS: Mutation carriers exhibited higher plasma NfL levels than non-carriers. In carriers, higher NfL levels were related to greater regional tau burden and worse cognition, but not amyloid beta load. When we adjusted for age, a proxy of disease progression, elevated plasma NfL levels were only correlated with worse memory recall. CONCLUSIONS: Findings support an association between plasma NfL, cognition, and tau pathology in non-demented individuals at genetic risk for developing AD dementia. Plasma NfL may be useful for selecting individuals at increased risk and tracking disease progression in AD.","journal":"Alzheimer s & Dementia","year":2021,"id":171408,"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":26,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8911,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":27601,"name":"Henrik Zetterberg","orcid":"0000-0003-3930-4354","position":1,"is_corresponding":false},{"id":255187,"name":"Joshua T. Fox‐Fuller","orcid":"0000-0003-0967-4362","position":2,"is_corresponding":false},{"id":255191,"name":"Clara Vila‐Castelar","orcid":"0000-0002-8779-1487","position":3,"is_corresponding":false},{"id":404056,"name":"Justin S. Sanchez","orcid":"0000-0003-4421-3078","position":4,"is_corresponding":false},{"id":255197,"name":"Ana Baena","orcid":"0000-0002-5622-4519","position":5,"is_corresponding":false},{"id":706888,"name":"Gloria Garcia‐Ospina","orcid":null,"position":6,"is_corresponding":false},{"id":656587,"name":"David Aguillón","orcid":"0000-0003-2283-536X","position":7,"is_corresponding":false},{"id":367057,"name":"Enmanuelle Pardilla‐Delgado","orcid":"0000-0003-1149-3157","position":8,"is_corresponding":false},{"id":467491,"name":"Jennifer R. Gatchel","orcid":"0000-0002-3892-9742","position":9,"is_corresponding":false},{"id":55000,"name":"Reisa A. Sperling","orcid":"0000-0003-1535-6133","position":10,"is_corresponding":false},{"id":232961,"name":"Keith A. Johnson","orcid":"0000-0002-5916-6043","position":11,"is_corresponding":false},{"id":55006,"name":"Eric M. Reiman","orcid":"0000-0002-0705-3696","position":12,"is_corresponding":false},{"id":27600,"name":"Kaj Blennow","orcid":"0000-0002-1890-4193","position":13,"is_corresponding":false},{"id":226616,"name":"Francisco Lopera","orcid":"0000-0003-3986-1484","position":14,"is_corresponding":false},{"id":226624,"name":"Yakeel T. Quiroz","orcid":"0000-0001-9714-8244","position":15,"is_corresponding":false},{"id":255190,"name":"Edmarie Guzmán‐Vélez","orcid":"0000-0002-3076-0727","position":0,"is_corresponding":true}],"reference_count":38,"raw_metadata":null,"created_at":"2026-07-18T23:46:33.067299Z","pmid":"33527648","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":[]}