{"id":"W4412157732","doi":"10.1007/s00415-025-13234-6","title":"Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series","year":2025,"lang":"en","type":"letter","venue":"Journal of Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Ataxia; Neurology; Neuroradiology; Cerebellar ataxia; Medicine; Neuroscience; Cerebellum; Pediatrics; Psychology","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":[0.0007437894,0.003297288,0.00174757,0.002376957,0.002872442,0.002056226,0.001902799,0.006864552,0.002906023],"category_scores_gemma":[0.00489636,0.001403054,0.002182047,0.001625038,0.002509558,0.001988461,0.001797028,0.002218771,0.001057284],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001344881,"about_ca_system_score_gemma":0.0008161775,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003563674,"about_ca_topic_score_gemma":0.004147514,"domain_scores_codex":[0.9989774,0.0001146054,0.0001609372,0.0002967814,0.0001305363,0.0003197858],"domain_scores_gemma":[0.9964662,0.001216045,0.0007485556,0.0003105597,0.0003519828,0.0009066339],"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":[0.00002731883,0.00002120929,0.004862478,0.00001078404,0.00001244409,0.9939694,0.000108321,0.00002652933,0.0003004852,0.00006174474,0.0001671207,0.0004321999],"study_design_scores_gemma":[0.00001311375,0.00003586562,0.005270387,0.0000098117,0.00002811551,0.9938485,0.000111088,0.0001261488,0.000188973,0.00008983673,0.0002659184,0.00001228489],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9826315,0.002052565,0.002531317,0.00235998,0.0003514303,0.00011328,0.0002072721,0.0001312513,0.009621398],"genre_scores_gemma":[0.9950635,0.0005202454,0.0009659594,0.0009467532,0.0008063046,0.00002266186,0.0000877007,0.00004967349,0.001537226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006864552,"threshold_uncertainty_score":0.009757817,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01755359917354502,"score_gpt":0.2331204523917473,"score_spread":0.2155668532182023,"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."}}