{"id":"W4400209586","doi":"10.1002/mds.29915","title":"Reduced Age‐Dependent Penetrance of a Large <scp> <i>FGF14</i> GAA </scp> Repeat Expansion in a 74‐Year‐Old Woman from a German Family with <scp>SCA27B</scp>","year":2024,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre de réadaptation Lethbridge-Layton-Mackay; McGill University; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft","keywords":"Penetrance; Ataxia; Spinocerebellar ataxia; Genetics; Trinucleotide repeat expansion; Medicine; Allele; Pediatrics; Biology; Phenotype; Psychiatry; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001266748,0.000682432,0.0004627425,0.00127372,0.0007998988,0.0002993839,0.0004052878,0.001229464,0.001326171],"category_scores_gemma":[0.0007275916,0.0002782251,0.0003619982,0.0004041943,0.0005103973,0.0003179359,0.0005000315,0.001091588,0.0004580437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005141716,"about_ca_system_score_gemma":0.0003407724,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01022901,"about_ca_topic_score_gemma":0.009758948,"domain_scores_codex":[0.9998518,0.000009749456,0.00001352476,0.00004600043,0.00003597009,0.00004293936],"domain_scores_gemma":[0.9996834,0.00006065213,0.00004601857,0.00001599873,0.00004245628,0.0001516206],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002460256,0.0001858974,0.1190049,0.00004351204,0.00002976696,0.8469927,0.001088969,0.0002221692,0.02212244,0.0001280851,0.0009365393,0.008998974],"study_design_scores_gemma":[0.00001237196,0.0007507509,0.2850575,0.00002904616,0.00006442078,0.7083165,0.000372051,0.0007262438,0.002901425,0.0001203082,0.001594617,0.00005477507],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949383,0.0009270557,0.0007240659,0.0006423292,0.00004046646,0.00004145613,0.0002607793,0.00006347777,0.002362053],"genre_scores_gemma":[0.9976078,0.0005024504,0.00054793,0.0002999422,0.00007186594,0.000009021039,0.0001419567,0.00001736478,0.0008016518],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01022901,"threshold_uncertainty_score":0.02033895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01492736375020114,"score_gpt":0.2475086193135246,"score_spread":0.2325812555633234,"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."}}