{"id":"W3170466132","doi":"10.2169/internalmedicine.7401-21","title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity","year":2021,"lang":"en","type":"article","venue":"Internal Medicine","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Spasticity; Medicine; Cerebellar ataxia; Ataxia; Compound heterozygosity; Polyneuropathy; Spastic; Phenotype; Pathology; Genetics; Gene; Physical medicine and rehabilitation; Biology; Cerebral palsy; 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":[0.0001354767,0.001047622,0.000438193,0.0006426441,0.0007675381,0.0003106736,0.0002700442,0.0005468092,0.002237436],"category_scores_gemma":[0.0005244244,0.0001589125,0.0002537204,0.0004857122,0.0006762088,0.0002054676,0.0004269083,0.0002874832,0.0002979928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001091715,"about_ca_system_score_gemma":0.001024265,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07936371,"about_ca_topic_score_gemma":0.1131981,"domain_scores_codex":[0.9998772,0.00001260284,0.00001361798,0.00002857263,0.00002996763,0.00003812081],"domain_scores_gemma":[0.9998261,0.00003301834,0.0000404644,0.000008189151,0.00003944676,0.00005280251],"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":[0.000604753,0.00008906049,0.1423486,0.0004753071,0.0002047997,0.7241058,0.001538016,0.001016545,0.09542404,0.003508398,0.002696173,0.02798858],"study_design_scores_gemma":[0.0001089734,0.000418809,0.2826819,0.0002026862,0.0001859816,0.6768199,0.0009511517,0.002840053,0.01818123,0.001114514,0.01638939,0.0001054284],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820017,0.00241419,0.002071542,0.0003557244,0.00006700552,0.00006469091,0.0004658083,0.0001472678,0.01241212],"genre_scores_gemma":[0.9960985,0.0004954212,0.0005720226,0.0001212598,0.00001551027,0.000009706376,0.0001141801,0.000009794097,0.002563465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07936371,"threshold_uncertainty_score":0.1578035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.034042521036513,"score_gpt":0.3016691754312569,"score_spread":0.2676266543947439,"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."}}