{"id":"W4402022892","doi":"10.1007/s13760-024-02627-5","title":"Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS)-first with tongue wasting, peripheral nerve thickening and a novel SACS gene mutation","year":2024,"lang":"en","type":"letter","venue":"Acta Neurologica Belgica","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Mutation; Channelopathy; Ataxia; Wasting; Thickening; Pathology; Spastic; Tongue; Anatomy; Gene; Peripheral neuropathy; Genetics; Internal medicine; Biology; Endocrinology","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":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0001781367,0.001086495,0.001228151,0.0002938993,0.0004731556,0.0003206038,0.001001159,0.000989116,0.0001772821],"category_scores_gemma":[0.001430011,0.0007559068,0.0003256834,0.000763949,0.0009488243,0.0003282284,0.0007044844,0.003286263,0.00002740718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003047018,"about_ca_system_score_gemma":0.0001326374,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005192534,"about_ca_topic_score_gemma":0.00001216694,"domain_scores_codex":[0.9939104,0.000459673,0.0008854577,0.002504448,0.001055485,0.001184523],"domain_scores_gemma":[0.9964237,0.001409214,0.0009294136,0.0007983086,0.0001451674,0.0002941491],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002272981,0.0009694411,0.001742099,0.002832306,0.0003103223,0.04718148,0.001103166,0.001048744,0.761466,0.0009618003,0.1787537,0.001357996],"study_design_scores_gemma":[0.007175001,0.01511501,0.05104928,0.001463371,0.003855003,0.01080607,0.00007192275,0.01180172,0.03184303,0.002628551,0.8576511,0.00653993],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8029847,0.000969824,0.000170142,0.1914706,0.0009426686,0.001246164,0.0008750705,0.0005067231,0.0008341867],"genre_scores_gemma":[0.7882089,0.0003896031,0.0002179606,0.2086879,0.001265306,0.0001695401,0.0001074173,0.0001598462,0.0007935024],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.729623,"threshold_uncertainty_score":0.9994892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02807938434737252,"score_gpt":0.2437725955361997,"score_spread":0.2156932111888271,"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."}}