{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001656853,0.001272792,0.0004159691,0.0008589248,0.001057446,0.0004956354,0.000295813,0.001101535,0.002530589],"category_scores_gemma":[0.001118127,0.0003970641,0.0004191128,0.0006784963,0.0007134777,0.0003592176,0.0005340728,0.0005522473,0.0003806467],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004603309,"about_ca_system_score_gemma":0.0006678193,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009086802,"about_ca_topic_score_gemma":0.006903816,"domain_scores_codex":[0.9997894,0.00003091265,0.00003170535,0.00005589781,0.00004048457,0.00005158635],"domain_scores_gemma":[0.9995184,0.000136141,0.00009691294,0.00001701377,0.00005867157,0.0001729513],"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":[0.0002279675,0.0001104022,0.05118512,0.0001000481,0.00003843896,0.9295061,0.002045104,0.0002455421,0.01170305,0.0002856409,0.0004330871,0.004119484],"study_design_scores_gemma":[0.00006599724,0.0005217732,0.070866,0.00005995401,0.00004937768,0.9225213,0.001150048,0.0009190854,0.001940788,0.000203465,0.001655525,0.00004673407],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970213,0.0002413041,0.0003391024,0.000185129,0.00002591402,0.00002555795,0.0001204802,0.0000215689,0.00201963],"genre_scores_gemma":[0.9986947,0.0001466322,0.0002388767,0.00006447226,0.00003331483,0.000007317745,0.00009308253,0.000006447868,0.0007151536],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009086802,"threshold_uncertainty_score":0.01806778,"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."}}