{"id":"W4362692775","doi":"10.1002/mds.29397","title":"Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients","year":2023,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Szegedi Tudományegyetem; Nemzeti Kutatási, Fejlesztési és Innovaciós Alap; Vlaamse regering; Universiteit Antwerpen; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Radboud Universiteit; Fonds Wetenschappelijk Onderzoek; Radboud Universitair Medisch Centrum; Horizon 2020 Framework Programme; Else Kröner-Fresenius-Stiftung; Bundesministerium für Bildung und Forschung; European Commission; Hersenstichting; Eberhard Karls Universität Tübingen; ZonMw; Deutsche Forschungsgemeinschaft","keywords":"Spinocerebellar ataxia; Ataxia; Natural history; Cerebellar ataxia; Pediatrics; Medicine; Disease; Age of onset; Clinical trial; Natural history study; Internal medicine; Psychiatry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007297776,0.0004626173,0.0007305169,0.001772931,0.0007114768,0.001067982,0.0003728765,0.0006539222,0.002619664],"category_scores_gemma":[0.00145898,0.0004543666,0.0005744069,0.002609094,0.0002969067,0.0008129583,0.0006811649,0.0003845778,0.0009093848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003921696,"about_ca_system_score_gemma":0.0004156322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00427317,"about_ca_topic_score_gemma":0.003293546,"domain_scores_codex":[0.9991661,0.0001813675,0.000149764,0.0002560205,0.0001126564,0.0001340765],"domain_scores_gemma":[0.999305,0.0001197518,0.0002578292,0.00005731808,0.0001097882,0.0001502641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002623,0.00004233473,0.9953167,0.00001846404,0.00008264364,0.0006083633,0.0001254027,0.00005043143,0.0002003383,0.00003701802,0.0004163217,0.002839543],"study_design_scores_gemma":[0.00004562427,0.0001256304,0.9957916,0.00003117301,0.00005581655,0.002399463,0.0003180233,0.0001257929,0.00006827331,0.0000658733,0.0009603247,0.0000123756],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959852,0.0007488339,0.0001577687,0.00004840619,0.000006664212,0.00002351245,0.002023597,0.00001228259,0.000993898],"genre_scores_gemma":[0.9954295,0.0006845956,0.0002443238,0.00009501234,0.00002787088,0.00005280608,0.003157834,0.00001340021,0.0002946843],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00427317,"threshold_uncertainty_score":0.008763611,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01861206445345737,"score_gpt":0.2423975800638713,"score_spread":0.2237855156104139,"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."}}