{"id":"W4385477459","doi":"10.1002/mds.29559","title":"As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort","year":2023,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Else Kröner-Fresenius-Stiftung; Deutsche Forschungsgemeinschaft; Génome Québec","keywords":"Spinocerebellar ataxia; Trinucleotide repeat expansion; Ataxia; Cohort; Population; Genetics; Biology; Medicine; Internal medicine; Neuroscience; Gene; Allele","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":["metaepi_narrow"],"category_scores_codex":[0.0003444121,0.00140129,0.001119005,0.0008931271,0.0003810882,0.0002820244,0.001649609,0.0006448084,0.0004572865],"category_scores_gemma":[0.001351553,0.001442419,0.0005290315,0.00113508,0.0003320358,0.0002166083,0.0009003399,0.00170552,0.002646393],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000417143,"about_ca_system_score_gemma":0.0004331631,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001731606,"about_ca_topic_score_gemma":0.0009419282,"domain_scores_codex":[0.9906464,0.0006674916,0.001238851,0.002874763,0.002188388,0.002384085],"domain_scores_gemma":[0.9967347,0.0005353948,0.0006000191,0.001735766,0.00007016233,0.0003239652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002240525,0.0007285565,0.02027359,0.0003683147,0.0001124734,0.002769168,0.0005212218,0.0001406652,0.04696533,0.0004027869,0.9274044,0.0002910936],"study_design_scores_gemma":[0.004440733,0.0009070394,0.04218703,0.0003845172,0.0003085631,0.0000105021,0.0004125455,0.0006259836,0.2209414,0.01220208,0.7159398,0.001639823],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.8910945,0.0005263432,0.00005234961,0.09656029,0.001953362,0.003806698,0.001508009,0.0004013065,0.004097141],"genre_scores_gemma":[0.1140014,0.001427487,0.00003420932,0.8398829,0.0009455776,0.00146055,0.001163607,0.0005743408,0.04050991],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.7770931,"threshold_uncertainty_score":0.9998738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01421766742326664,"score_gpt":0.2661061010271361,"score_spread":0.2518884336038695,"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."}}