{"id":"W4385798810","doi":"10.1111/ene.16039","title":"Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia","year":2023,"lang":"en","type":"article","venue":"European Journal of Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"UCLH Biomedical Research Centre; Medical Research Council; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Brain Research UK; Alzheimer’s Research UK; Rosetrees Trust; Multiple System Atrophy Trust; Wellcome Trust; Ataxia UK; National Institute for Health and Care Research; Biotechnology and Biological Sciences Research Council; Michael J. Fox Foundation for Parkinson's Research","keywords":"Ataxia; Cohort; Medicine; Spinocerebellar ataxia; Gait Ataxia; Cerebellar ataxia; Trinucleotide repeat expansion; Dysarthria; Pediatrics; Internal medicine; Genetics; Audiology; Psychiatry; Biology; Allele","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":[0.0003554639,0.0003915493,0.0005191406,0.001201491,0.0004872181,0.0005132713,0.0003302248,0.0004064937,0.001909694],"category_scores_gemma":[0.001217226,0.0002694337,0.0002722935,0.000697942,0.000355382,0.0002176944,0.00039827,0.0002930712,0.0004619219],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003840713,"about_ca_system_score_gemma":0.0003664599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01850065,"about_ca_topic_score_gemma":0.009978891,"domain_scores_codex":[0.9997268,0.00004731237,0.00002548166,0.00009914303,0.0000485407,0.00005265487],"domain_scores_gemma":[0.9993156,0.00008230538,0.0002142857,0.00005813694,0.0001347911,0.0001948671],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00012461,0.00002767776,0.9966756,0.000006550406,0.00002665689,0.0008692486,0.0001257989,0.00002450718,0.0006804302,0.00001099857,0.0001853428,0.001242499],"study_design_scores_gemma":[0.00001554162,0.0000796872,0.995905,0.000004905406,0.00001432271,0.003329901,0.0002306362,0.00009577414,0.0000541587,0.00001327993,0.0002526069,0.000003993448],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999465,0.00009877416,0.00003627258,0.00001863259,0.000001994237,0.000005162997,0.0001630081,0.000003610108,0.0002073983],"genre_scores_gemma":[0.9992998,0.00009514545,0.00003729341,0.00001822368,0.00000610829,0.000006688954,0.0003661948,0.000004552735,0.0001660546],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01850065,"threshold_uncertainty_score":0.03678596,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02221586371517557,"score_gpt":0.2381646912305404,"score_spread":0.2159488275153648,"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."}}