{"id":"W4400236499","doi":"10.4103/neurol-india.neurol-india-d-24-00315","title":"Very Early Onset Familial Alzheimer’s Disease Due to Mutation in PSEN1 I143T – First Case Report from South Asia","year":2024,"lang":"en","type":"letter","venue":"Neurology India","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; PSEN1; Disease; Early-onset Alzheimer's disease; Mutation; Pediatrics; Alzheimer's disease; Genetics; Pathology; Presenilin; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002473923,0.002449351,0.001777963,0.002555731,0.002308959,0.001114218,0.001867397,0.004110482,0.003707882],"category_scores_gemma":[0.001058426,0.001435011,0.001620814,0.001541574,0.001433153,0.001703257,0.001848409,0.002389731,0.001236805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007775257,"about_ca_system_score_gemma":0.0004871392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002360658,"about_ca_topic_score_gemma":0.002611626,"domain_scores_codex":[0.9994283,0.00003795638,0.00008935266,0.0002123718,0.00008437324,0.0001476599],"domain_scores_gemma":[0.9992728,0.0001139586,0.0001618396,0.0000705451,0.00007821897,0.0003025325],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001916063,0.00003329508,0.004975779,0.0000528888,0.0000168216,0.9925991,0.0002756744,0.00002105945,0.001002272,0.00004831335,0.0002959515,0.0006596663],"study_design_scores_gemma":[0.00000724272,0.00006335412,0.008241137,0.00002066849,0.00001716764,0.9902351,0.0001600572,0.00004588874,0.0001878589,0.00006891895,0.0009376755,0.0000148718],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9762456,0.008015027,0.001847341,0.001760935,0.0007574875,0.0002437268,0.0004219206,0.0002015076,0.01050648],"genre_scores_gemma":[0.9917788,0.003079468,0.0006174115,0.0009241647,0.000943942,0.00004077369,0.000198761,0.00003598272,0.002380678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004110482,"threshold_uncertainty_score":0.01240408,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02800959213967713,"score_gpt":0.2997223110769912,"score_spread":0.2717127189373141,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}