{"id":"W4412922157","doi":"10.21203/rs.3.rs-7103872/v1","title":"Repeat Expansions in a Chilean Cohort With Adult-Onset Cerebellar Ataxia","year":2025,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Cohort; Ataxia; Cerebellar ataxia; Medicine; Trinucleotide repeat expansion; Cerebellum; Age of onset; Audiology; Pediatrics; Neuroscience; Internal medicine; Psychology; Biology; Genetics; Disease","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":[0.0003030089,0.0004230046,0.000303165,0.000853634,0.001111661,0.0007387383,0.000445578,0.0004714869,0.005020335],"category_scores_gemma":[0.001359534,0.0002971242,0.0002756444,0.001090667,0.0003917703,0.0003341699,0.0006598731,0.0004600445,0.0006754047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006815688,"about_ca_system_score_gemma":0.0005991229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04815216,"about_ca_topic_score_gemma":0.04176816,"domain_scores_codex":[0.9998212,0.0000252012,0.00001219909,0.00007743869,0.00001844445,0.00004552004],"domain_scores_gemma":[0.9995224,0.00008842989,0.0001230604,0.00006862381,0.00009604962,0.0001013932],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003519138,0.00009363669,0.9877207,0.00002281379,0.00008783912,0.004290689,0.001349464,0.0000856637,0.001609473,0.0001749252,0.001215928,0.002996908],"study_design_scores_gemma":[0.00002931619,0.00006382223,0.9931,0.0000342366,0.00005030894,0.003252478,0.00179846,0.0001595863,0.00009948231,0.0001481879,0.001248949,0.00001511217],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99796,0.00008968761,0.00006361484,0.00007928124,0.000005365422,0.000008950205,0.0007040121,0.00000438903,0.001084836],"genre_scores_gemma":[0.9978022,0.0001259805,0.00007857813,0.00006370312,0.00001074532,0.00001685777,0.0005826475,0.00001082147,0.001308498],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04815216,"threshold_uncertainty_score":0.09574372,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05710034415446413,"score_gpt":0.3746898527119328,"score_spread":0.3175895085574686,"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."}}