{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001169805,0.000558788,0.0004446712,0.0004597374,0.0001141005,0.0001043057,0.000553284,0.0002594735,0.00008780051],"category_scores_gemma":[0.0008918079,0.0005936836,0.00007009634,0.001050563,0.0002276258,0.0001446297,0.0004192107,0.001025344,0.00009522476],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001466434,"about_ca_system_score_gemma":0.0001481825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007070817,"about_ca_topic_score_gemma":0.001437746,"domain_scores_codex":[0.9957134,0.0007368974,0.0005723146,0.001455817,0.0007467146,0.0007748163],"domain_scores_gemma":[0.9988155,0.0002584196,0.0002386574,0.0005430134,0.00005390334,0.0000904689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003384935,0.0004114295,0.5389863,0.000259802,0.00001270805,0.0005677271,0.0004247539,0.0001079841,0.001331413,0.00001960662,0.4565979,0.001246486],"study_design_scores_gemma":[0.002932717,0.0003730948,0.9479075,0.0002828963,0.00003737408,4.331595e-7,0.00009531872,0.0002087071,0.008487909,0.01093588,0.02711513,0.001623032],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.907024,0.000078287,0.000002673312,0.08937907,0.0006522851,0.001224423,0.0006710076,0.00008984731,0.000878456],"genre_scores_gemma":[0.2178362,0.001248301,0.00004494402,0.7776375,0.0001760656,0.0003830447,0.0004676262,0.0002358022,0.001970491],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.6891878,"threshold_uncertainty_score":0.9996514,"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."}}