{"id":"W4407611481","doi":"10.1038/s41431-025-01811-2","title":"An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2","year":2025,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"ZonMw; Ionis Pharmaceuticals; Motor Neurone Disease Association; Cure for MND Foundation; Wellcome Trust; Fondation Thierry Latran; National Institute of Neurological Disorders and Stroke; Wellcome; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Amyotrophic lateral sclerosis; Spinocerebellar ataxia; Biology; Trinucleotide repeat expansion; Genetics; Penetrance; Pedigree chart; Parkinsonism; Phenotype; Population; Frontotemporal dementia; Disease; Dementia; Medicine; Allele; Internal medicine; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003412414,0.0001865202,0.0004008749,0.000217675,0.0001063015,0.00002610839,0.000433594,0.0000191277,0.00001432586],"category_scores_gemma":[0.0001781776,0.0001582138,0.00006965105,0.0003155294,0.0002689222,0.0000913609,0.00008350236,0.0001502384,2.256003e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001627084,"about_ca_system_score_gemma":0.00009729535,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004581925,"about_ca_topic_score_gemma":0.000009979158,"domain_scores_codex":[0.9969945,0.001100953,0.0008912827,0.0002728787,0.0005803271,0.0001600645],"domain_scores_gemma":[0.9980187,0.0001055833,0.000925132,0.0003238145,0.000533508,0.00009329821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001513558,0.0006808433,0.1420128,0.00003069326,0.00003939494,0.00002420053,0.0007341838,0.005350623,0.8506308,0.00004209636,0.00002737309,0.0002756362],"study_design_scores_gemma":[0.001500239,0.003488957,0.6296605,0.0001770832,0.00008403236,0.000003140496,0.0001006345,0.0001403393,0.3647382,0.00002531339,0.000001910385,0.00007959467],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992554,0.0002107368,0.0001171887,0.00002922876,0.00008000803,0.0002070668,0.00003059094,0.000005984201,0.00006375357],"genre_scores_gemma":[0.9992819,0.0000964908,0.0004326972,0.00009148491,0.00002959484,8.051894e-7,0.000001938283,0.00002923685,0.00003578681],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4876478,"threshold_uncertainty_score":0.6451772,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1206351677666878,"score_gpt":0.3083311284638637,"score_spread":0.187695960697176,"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."}}