{"id":"W4404409690","doi":"10.1016/j.jns.2024.123309","title":"Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms","year":2024,"lang":"en","type":"article","venue":"Journal of the Neurological Sciences","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"","keywords":"Cerebellar ataxia; Ataxia; Medicine; Current (fluid); Trinucleotide repeat expansion; Pediatrics; Algorithm; Computer science; Psychiatry; Biology; Genetics; Physics","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":[0.001108362,0.0008027649,0.000702394,0.001689854,0.0005303242,0.0009156404,0.0006624367,0.0009701442,0.002310756],"category_scores_gemma":[0.003841576,0.0001862315,0.0005011855,0.0007173575,0.0005028637,0.0009820968,0.0004851281,0.0007058528,0.0004501459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004923175,"about_ca_system_score_gemma":0.0006282219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005543499,"about_ca_topic_score_gemma":0.003979581,"domain_scores_codex":[0.999577,0.0001113331,0.0001024102,0.00008851352,0.00007345996,0.00004746081],"domain_scores_gemma":[0.9988587,0.0005255807,0.0001782544,0.00007402173,0.0002311487,0.000132351],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002706739,0.0001492487,0.922481,0.0001724611,0.000101031,0.01325334,0.0005526794,0.0006213373,0.005866207,0.0008052227,0.002651602,0.05307516],"study_design_scores_gemma":[0.00009793663,0.0005228797,0.9084269,0.0008066946,0.0003263138,0.06187794,0.003160353,0.005188786,0.002933481,0.006910087,0.009661143,0.00008746967],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9760721,0.005703573,0.004535162,0.003408374,0.0002056244,0.00008853567,0.000503345,0.0001501233,0.009333261],"genre_scores_gemma":[0.9930084,0.001646422,0.003418941,0.0006066781,0.00006452476,0.00002273917,0.0003361936,0.0000183714,0.000877723],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005543499,"threshold_uncertainty_score":0.01102245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03021284639685419,"score_gpt":0.2855312276005488,"score_spread":0.2553183812036946,"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."}}