{"id":"W4392875967","doi":"10.1016/j.neurol.2024.02.136","title":"Quand une ataxie à expansion peut en cacher une autre : à propos de 3 cas avec ataxie cérébelleuse tardive portant des expansions pathologiques dans RFC1 (CANVAS) et FGF14 (SCA27B)","year":2024,"lang":"fr","type":"article","venue":"Revue Neurologique","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Ataxia; Medicine","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":[0.0004457271,0.002218687,0.000736472,0.00203621,0.002384845,0.001214803,0.001110887,0.003640806,0.005070839],"category_scores_gemma":[0.004058137,0.0008225972,0.001194724,0.0009170757,0.00242558,0.00136597,0.0007901385,0.002087405,0.001119486],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001021998,"about_ca_system_score_gemma":0.0008222579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0110733,"about_ca_topic_score_gemma":0.01237425,"domain_scores_codex":[0.9994841,0.00004122517,0.00007481034,0.0001672466,0.0000889619,0.0001436162],"domain_scores_gemma":[0.9976775,0.0008880857,0.0006220003,0.0001719458,0.0002359347,0.0004044927],"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":[0.00007233091,0.00002886376,0.01306102,0.00003990997,0.00003923906,0.9805301,0.0003928094,0.0001082489,0.003167185,0.0002028642,0.000270837,0.00208666],"study_design_scores_gemma":[0.00001154136,0.00003438639,0.006369482,0.00001407598,0.00004164132,0.9911318,0.0001252626,0.0001781031,0.00124043,0.0001481866,0.0006918123,0.00001334466],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9789068,0.002482859,0.004462824,0.002335539,0.0003415705,0.00009982471,0.0002919754,0.0001899106,0.01088872],"genre_scores_gemma":[0.9928678,0.0006116061,0.002280799,0.00076733,0.0003332852,0.00002264124,0.0001052011,0.0000775179,0.002933742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0110733,"threshold_uncertainty_score":0.02201766,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04811198865937868,"score_gpt":0.3044114603970509,"score_spread":0.2562994717376722,"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."}}