{"id":"W4409342705","doi":"10.1016/j.msard.2025.106439","title":"Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature","year":2025,"lang":"en","type":"review","venue":"Multiple Sclerosis and Related Disorders","topic":"Cerebrovascular and genetic disorders","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; McGill University; Montreal Neurological Institute and Hospital","funders":"Takeda Pharmaceuticals U.S.A.","keywords":"Multiple sclerosis; Medicine; Observational study; MEDLINE; Dermatology; Psychiatry; Pathology; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001581826,0.000581854,0.002415689,0.005391716,0.0003487136,0.001414875,0.00105551,0.001040568,0.002251055],"category_scores_gemma":[0.006565443,0.0003601546,0.001443556,0.007290286,0.0005116372,0.001638408,0.0007969881,0.0008086463,0.0002835953],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005758143,"about_ca_system_score_gemma":0.002474088,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00268414,"about_ca_topic_score_gemma":0.006132658,"domain_scores_codex":[0.9988455,0.0001835555,0.0005192835,0.0002215319,0.0001838933,0.00004635928],"domain_scores_gemma":[0.994747,0.003707991,0.001077902,0.00007314769,0.0003199469,0.00007397041],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.000619263,0.0001140158,0.03555123,0.3929504,0.006627298,0.003351515,0.000732107,0.000328426,0.0009846711,0.001300037,0.01651385,0.5409271],"study_design_scores_gemma":[0.0002970399,0.000341764,0.1691264,0.4396867,0.04947038,0.04513493,0.002795297,0.0003043723,0.0007835769,0.003035545,0.2887464,0.0002775952],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0008868478,0.9986326,0.00004005037,0.0001180039,0.00004285621,0.000005913556,0.0001216506,0.000001657509,0.0001503641],"genre_scores_gemma":[0.003805549,0.9956492,0.0001307438,0.0002015873,0.00006686135,0.000007709523,0.0001097527,8.523963e-7,0.00002767856],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005391716,"threshold_uncertainty_score":0.008365631,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05250570815092951,"score_gpt":0.2930510464391479,"score_spread":0.2405453382882184,"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."}}