{"doi":"10.1002/alz.13482","title":"Pathogenic variants in the Longitudinal Early‐onset Alzheimer's Disease Study cohort","abstract":"INTRODUCTION: One goal of the Longitudinal Early-onset Alzheimer's Disease Study (LEADS) is to investigate the genetic etiology of early onset (40-64 years) cognitive impairment. Toward this goal, LEADS participants are screened for known pathogenic variants. METHODS: LEADS amyloid-positive early-onset Alzheimer's disease (EOAD) or negative early-onset non-AD (EOnonAD) cases were whole exome sequenced (N = 299). Pathogenic variant frequency in APP, PSEN1, PSEN2, GRN, MAPT, and C9ORF72 was assessed for EOAD and EOnonAD. Gene burden testing was performed in cases compared to similar-age cognitively normal controls in the Parkinson's Progression Markers Initiative (PPMI) study. RESULTS: Previously reported pathogenic variants in the six genes were identified in 1.35% of EOAD (3/223) and 6.58% of EOnonAD (5/76). No genes showed enrichment for carriers of rare functional variants in LEADS cases. DISCUSSION: Results suggest that LEADS is enriched for novel genetic causative variants, as previously reported variants are not observed in most cases. HIGHLIGHTS: Sequencing identified eight cognitively impaired pathogenic variant carriers. Pathogenic variants were identified in PSEN1, GRN, MAPT, and C9ORF72. Rare variants were not enriched in APP, PSEN1/2, GRN, and MAPT. The Longitudinal Early-onset Alzheimer's Disease Study (LEADS) is a key resource for early-onset Alzheimer's genetic research.","journal":"Alzheimer s & Dementia","year":2023,"id":327056,"datarank":0.7389032514979348,"base_score":3.332204510175204,"endowment":3.332204510175204,"self_citation_contribution":0.49983067652628066,"citation_network_contribution":0.23907257497165418,"self_endowment_contribution":0.49983067652628066,"citer_contribution":0.23907257497165418,"corpus_percentile":72.76243521311983,"corpus_rank":3522,"citation_count":27,"citer_count":18,"citers_with_citation_signal":10,"citers_with_endowment":10,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7137,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":16.6667,"fair_percentile":34.85172730051972,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1047083,"name":"Trever Jackson","orcid":null,"position":1,"is_corresponding":false},{"id":641505,"name":"Malia Rumbaugh","orcid":null,"position":2,"is_corresponding":false},{"id":640858,"name":"Ani Eloyan","orcid":"0000-0002-8110-7680","position":3,"is_corresponding":false},{"id":899526,"name":"Marco Abreu","orcid":"0000-0002-5659-1255","position":4,"is_corresponding":false},{"id":230948,"name":"Jeffrey L. Dage","orcid":"0000-0002-2192-1699","position":5,"is_corresponding":false},{"id":1047084,"name":"Casey Snoddy","orcid":null,"position":6,"is_corresponding":false},{"id":253913,"name":"Kelley Faber","orcid":"0000-0003-3224-2736","position":7,"is_corresponding":false},{"id":40730,"name":"Tatiana Foroud","orcid":"0000-0002-5549-2212","position":8,"is_corresponding":false},{"id":518894,"name":"Dustin B. Hammers","orcid":"0000-0002-1644-2618","position":9,"is_corresponding":false},{"id":1045790,"name":"Alexander Taurone","orcid":null,"position":10,"is_corresponding":false},{"id":1045791,"name":"Maryanne Thangarajah","orcid":null,"position":11,"is_corresponding":false},{"id":229340,"name":"Paul Aisen","orcid":null,"position":12,"is_corresponding":false},{"id":51714,"name":"Laurel Beckett","orcid":"0000-0002-2418-9843","position":13,"is_corresponding":false},{"id":253924,"name":"Joel H. Kramer","orcid":"0000-0002-2917-8297","position":14,"is_corresponding":false},{"id":226060,"name":"Robert A. Koeppe","orcid":"0000-0002-9514-5311","position":15,"is_corresponding":false},{"id":253925,"name":"Walter A. Kukull","orcid":"0000-0001-8761-9014","position":16,"is_corresponding":false},{"id":91825,"name":"Melissa E. Murray","orcid":"0000-0001-7379-2545","position":17,"is_corresponding":false},{"id":51713,"name":"Arthur W. Toga","orcid":"0000-0001-7902-3755","position":18,"is_corresponding":false},{"id":226058,"name":"Prashanthi Vemuri","orcid":"0000-0003-4286-0589","position":19,"is_corresponding":false},{"id":618790,"name":"Alireza Atri","orcid":"0000-0003-4405-6973","position":20,"is_corresponding":false},{"id":321439,"name":"Gregory S. Day","orcid":"0000-0001-5133-5538","position":21,"is_corresponding":false},{"id":339499,"name":"Ranjan Duara","orcid":"0000-0001-8060-6309","position":22,"is_corresponding":false},{"id":230889,"name":"Neill R. Graff‐Radford","orcid":"0000-0001-9847-9096","position":23,"is_corresponding":false},{"id":108602,"name":"Lawrence S. Honig","orcid":"0000-0002-9703-2265","position":24,"is_corresponding":false},{"id":226059,"name":"David T. Jones","orcid":"0000-0002-4807-9833","position":25,"is_corresponding":false},{"id":636687,"name":"Joseph C. Masdeu","orcid":"0000-0001-9955-6954","position":26,"is_corresponding":false},{"id":233798,"name":"Mario F. Mendez","orcid":"0000-0001-6441-7989","position":27,"is_corresponding":false},{"id":242342,"name":"Erik S. Musiek","orcid":"0000-0002-8873-0360","position":28,"is_corresponding":false},{"id":233787,"name":"Chiadi U. Onyike","orcid":"0000-0003-2255-4437","position":29,"is_corresponding":false},{"id":67114,"name":"Meghan Riddle","orcid":null,"position":30,"is_corresponding":false},{"id":253934,"name":"Emily Rogalskı","orcid":"0000-0002-6472-1363","position":31,"is_corresponding":false},{"id":301881,"name":"Stephen Salloway","orcid":"0000-0002-2631-0942","position":32,"is_corresponding":false},{"id":344309,"name":"Sharon J. Sha","orcid":"0000-0002-3666-1463","position":33,"is_corresponding":false},{"id":269676,"name":"Raymond Scott Turner","orcid":"0000-0001-7534-2935","position":34,"is_corresponding":false},{"id":107092,"name":"Thomas S. Wingo","orcid":"0000-0002-7679-6282","position":35,"is_corresponding":false},{"id":230045,"name":"David A. Wolk","orcid":"0000-0002-3554-3481","position":36,"is_corresponding":false},{"id":49968,"name":"María C. Carrillo","orcid":"0000-0003-3057-2387","position":37,"is_corresponding":false},{"id":19606,"name":"Bradford C. Dickerson","orcid":"0000-0002-5958-3445","position":38,"is_corresponding":false},{"id":230947,"name":"Gil D. Rabinovici","orcid":"0000-0002-3626-4265","position":39,"is_corresponding":false},{"id":278826,"name":"Liana G. Apostolova","orcid":"0000-0003-1823-2451","position":40,"is_corresponding":false},{"id":278824,"name":"Kelly Nudelman","orcid":"0000-0003-4040-1717","position":0,"is_corresponding":true}],"reference_count":33,"raw_metadata":null,"created_at":"2026-07-19T01:08:37.840107Z","pmid":"37801072","pmcid":"PMC10783439","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":22.2222,"fair_a":50.0,"fair_i":40.0,"fair_r":25.0,"fair_zscore":-0.7039,"fair_rationale":{"fair_score":16.67,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":22.22,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":"https://leads-study.medicine.iu.edu/","grounded":false,"rationale":"The paper provides a URL for the LEADS website, which is a project site and not a persistent identifier scheme. 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A reader — and a harvester — should not have to infer the access level from the presence of a download link.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"LEADS data are available by request; proposals will be reviewed by the LEADS Data Sharing Committee (see Apostolova et al., 2021 [3] for more information).","why":"The paper describes the access action (request and review) but does not apply an explicit access-level label from the standard vocabulary.","gain":0.0,"priority":"important","scored":false},{"key":"i_community_standard_vocabulary","dimension":"I","label":"Community standard / vocabulary","action":"Adopt and NAME your domain's data standard — the minimum-information checklist, metadata schema, or ontology your community uses (MIAME/MINSEQE, ISA-Tab, BIDS, an OBO ontology, HL7 FHIR/OMOP) — and say which one you followed. A reporting checklist standardises your paper; it does nothing for your data. In neuroimaging, describe the data with BIDS, NIfTI or DICOM.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No data or metadata community standard (ontology, checklist, schema) is named for the dataset. [majority verdict 'no' (4/5 passes agreed)]","gain":0.0,"priority":"important","scored":false},{"key":"r_documentation_codebook","dimension":"R","label":"Documentation / codebook","action":"Ship a README and a data dictionary IN the deposit — every file, every variable, its units, its allowed values, its missing-value codes. It is the cheapest single thing that makes a dataset usable by someone who was not in the lab, and a table buried in the article does not travel with the data.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No documentation object (README, codebook) is mentioned as accompanying the data. [majority verdict 'no' (4/5 passes agreed)]","gain":0.0,"priority":"important","scored":false},{"key":"a_timeline_retention","dimension":"A","label":"Availability timing & retention","action":"State when the data become available AND how long they will be retained — cite the repository's preservation policy. NIH DMS Element 4 asks for both; most papers give neither.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper states data are available by request but does not specify when they become available or for how long they persist.","gain":0.0,"priority":"useful","scored":false}],"suggestions":["Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Attach a standard, machine-readable open licence to the deposit — CC0 or CC BY, which is what Horizon Europe and most funders expect — and print the licence identifier in the paper. 'Free to use' is not a licence: it grants nothing a reuser's institution can rely on.","Remove the precondition or justify it. Release the data at publication with no embargo, no registration wall, and no approval step — NIH's zero-embargo public- access rule (NOT-OD-25-101) has already made 'available at publication' the federal baseline for the article; the data should not lag behind it. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit. Cite the neuroimaging repository accession (e.g. from OpenNeuro or NeuroVault) in the reference list."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v8","fulltext_source":"unpaywall_pdf"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v8","fair_fulltext_source":"unpaywall_pdf","fair_has_llm":true,"fair_computed_at":"2026-07-20T11:40:38.151995Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}