{"id":"W3034171325","doi":"10.5334/tohm.68","title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene","year":2020,"lang":"en","type":"article","venue":"Tremor and Other Hyperkinetic Movements","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Feature (linguistics); Mutation; Ataxia; Medicine; Cerebellar ataxia; Genetics; Gene; Spastic; Biology; Physical medicine and rehabilitation; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001394708,0.0001889605,0.0001991088,0.0000722727,0.0000807191,0.00006180249,0.0001950184,0.00003068401,0.00001374742],"category_scores_gemma":[0.0002883393,0.0001154917,0.00002640517,0.000329198,0.0002299077,0.0000758227,0.00006125974,0.0001838521,0.000001606202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001001044,"about_ca_system_score_gemma":0.00003639442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005945869,"about_ca_topic_score_gemma":0.0001111363,"domain_scores_codex":[0.9983501,0.0003121546,0.0003380766,0.0004714301,0.0003101537,0.0002180933],"domain_scores_gemma":[0.9991425,0.0004309216,0.0001574896,0.000182943,0.00001957607,0.00006657605],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003684651,0.0005739965,0.7301617,0.0001177013,0.00002479297,0.0001776649,0.01135248,0.000367649,0.246899,0.0002059566,0.0003263001,0.009424351],"study_design_scores_gemma":[0.003614429,0.0004690746,0.9630054,0.0001207592,0.00004494146,0.00004595318,0.001202479,0.008255238,0.0227053,0.0001186414,0.0002047118,0.0002130338],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995809,0.0002250886,0.0001928236,0.002832887,0.00003799159,0.0007110919,0.00007873529,0.000009369164,0.0001029671],"genre_scores_gemma":[0.9896406,0.00002606063,0.0001679541,0.0100116,0.00003023905,0.00004869933,0.000004554477,0.00002276881,0.00004753738],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2328438,"threshold_uncertainty_score":0.4709613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04483272425249581,"score_gpt":0.2860666696213486,"score_spread":0.2412339453688528,"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."}}