{"id":"W2089662828","doi":"10.1136/jnnp.2005.077297","title":"A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay","year":2006,"lang":"en","type":"letter","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Frameshift mutation; Nonsense mutation; Medicine; Consanguinity; Ataxia; Gait Disturbance; Spastic; Pediatrics; Gait; Nonsense; Genetics; Mutation; Physical medicine and rehabilitation; Gene; Missense mutation; Psychiatry; Biology; Cerebral palsy","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001386388,0.001217992,0.0007441002,0.00111514,0.001320619,0.0004997051,0.000469979,0.001809731,0.001689038],"category_scores_gemma":[0.0007670661,0.000589103,0.0005854894,0.0009432668,0.000957205,0.0004782713,0.00059532,0.000609082,0.0003743634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008607694,"about_ca_system_score_gemma":0.000779153,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01917221,"about_ca_topic_score_gemma":0.02894896,"domain_scores_codex":[0.9997653,0.00001547769,0.00002576951,0.00008792079,0.00003706533,0.0000684577],"domain_scores_gemma":[0.9995939,0.00007127062,0.00006778396,0.00002001774,0.00004115341,0.0002058827],"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":[0.00008991085,0.00003006402,0.01292445,0.00003695512,0.00001906329,0.9762712,0.0006249683,0.00006741613,0.008185024,0.0001722154,0.0002401939,0.001338659],"study_design_scores_gemma":[0.00004054952,0.0002983948,0.03928422,0.00001979025,0.00007187722,0.9562765,0.0003503698,0.0004466991,0.001482017,0.0001112093,0.001577819,0.00004059297],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953598,0.0007586584,0.0006623449,0.0004241276,0.0000788341,0.00004270802,0.0001151488,0.00005592863,0.002502531],"genre_scores_gemma":[0.9975987,0.0002925525,0.0005766138,0.0001768949,0.00009494762,0.00001047258,0.00006861823,0.00001270816,0.001168515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01917221,"threshold_uncertainty_score":0.03812128,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03883511839783962,"score_gpt":0.2965666865645435,"score_spread":0.257731568166704,"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."}}