{"doi":"10.3233/jad-200723","title":"Examining Sex Differences in Markers of Cognition and Neurodegeneration in Autosomal Dominant Alzheimer’s Disease: Preliminary Findings from the Colombian Alzheimer’s Prevention Initiative Biomarker Study","abstract":"BACKGROUND: Growing evidence suggests that there may be a sex-specific biological risk for Alzheimer's disease (AD). Individuals with autosomal dominant AD due to a mutation (E280A) in Presenilin-1 (PSEN1) are genetically determined to develop early-onset dementia and thus, have few age-related risk factors for AD that are known to vary by sex (i.e., cardiovascular disease, menopause, life expectancy). OBJECTIVE: Investigate sex differences in markers of cognition and neurodegeneration in autosomal dominant AD. METHODS: We conducted a retrospective study in 19 cognitively-unimpaired PSEN1 mutation carriers (age range 20-44; 11 females), 11 symptomatic carriers (age range 42-56; 8 females), and 23 matched non-carriers family members (age range 20-50; 13 females). We examined hippocampal volume ratio, CERAD Total Score, and CERAD Word List (i.e., Learning, Delayed Recall, and Recognition). Mann-Whitney U tests, Spearman correlations and regression models were conducted. RESULTS: There were no differential associations between age, CERAD Total Score, CERAD Word List-Learning, Delayed Recall, Recognition, and hippocampal volume ratio in male and female carriers and non-carriers. Cognitively-unimpaired female carriers showed better CERAD Total scores and CERAD Word List-Learning than cognitively-unimpaired male carriers, despite having similar hippocampal volume ratios. The interaction of sex and hippocampal volume ratio did not predict cognitive performance across groups. CONCLUSION: Our preliminary findings suggest that cognitively-unimpaired female carriers showed a verbal memory reserve, and as disease progresses, female carriers did not exhibit a cognitive susceptibility to AD-related neurodegeneration. Future studies with larger samples of autosomal dominant AD are warranted to further understand sex differences in AD-related clinical and pathological markers.","journal":"Journal of Alzheimer s Disease","year":2020,"id":69291,"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":21,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.956,"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":255190,"name":"Edmarie Guzmán‐Vélez","orcid":"0000-0002-3076-0727","position":1,"is_corresponding":false},{"id":367057,"name":"Enmanuelle Pardilla‐Delgado","orcid":"0000-0003-1149-3157","position":2,"is_corresponding":false},{"id":261846,"name":"Rachel F. Buckley","orcid":"0000-0002-5356-5537","position":3,"is_corresponding":false},{"id":367058,"name":"Yamile Bocanegra","orcid":"0000-0003-3064-2509","position":4,"is_corresponding":false},{"id":255197,"name":"Ana Baena","orcid":"0000-0002-5622-4519","position":5,"is_corresponding":false},{"id":255187,"name":"Joshua T. Fox‐Fuller","orcid":"0000-0003-0967-4362","position":6,"is_corresponding":false},{"id":257101,"name":"Victoria Tirado","orcid":null,"position":7,"is_corresponding":false},{"id":255198,"name":"Claudia Muñoz","orcid":"0000-0003-4961-5308","position":8,"is_corresponding":false},{"id":255196,"name":"Margarita Giraldo","orcid":"0000-0002-4792-8100","position":9,"is_corresponding":false},{"id":367059,"name":"Natalia Acosta‐Baena","orcid":"0000-0002-5319-1619","position":10,"is_corresponding":false},{"id":257102,"name":"Silvia Ríos‐Romenets","orcid":null,"position":11,"is_corresponding":false},{"id":367060,"name":"Jessica B. Langbaum","orcid":"0000-0003-3848-1324","position":12,"is_corresponding":false},{"id":255199,"name":"Pierre N. Tariot","orcid":"0000-0002-6058-8032","position":13,"is_corresponding":false},{"id":226616,"name":"Francisco Lopera","orcid":"0000-0003-3986-1484","position":14,"is_corresponding":false},{"id":55006,"name":"Eric M. Reiman","orcid":"0000-0002-0705-3696","position":15,"is_corresponding":false},{"id":226624,"name":"Yakeel T. Quiroz","orcid":"0000-0001-9714-8244","position":16,"is_corresponding":false},{"id":255191,"name":"Clara Vila‐Castelar","orcid":"0000-0002-8779-1487","position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-18T21:42:22.705573Z","pmid":"32925067","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":[]}