{"id":"W4388264153","doi":"10.4103/aian.aian_624_23","title":"Early-Onset Spastic Ataxia Due to a Novel Mutation of the SACS Gene – A Case Report from North India with a Review of Indian Literature","year":2023,"lang":"en","type":"review","venue":"Annals of Indian Academy of Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Pes cavus; Abnormality; Pediatrics; Neurological examination; Deformity; Family history; Physical therapy; Surgery; Physical medicine and rehabilitation","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":[0.0003467334,0.00156303,0.001398441,0.006554527,0.001305218,0.002105792,0.001817671,0.002507337,0.002362473],"category_scores_gemma":[0.00106292,0.0007402414,0.001103003,0.005892401,0.001796475,0.002060439,0.001170878,0.001489446,0.0009305763],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007129975,"about_ca_system_score_gemma":0.001099134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003662856,"about_ca_topic_score_gemma":0.005320418,"domain_scores_codex":[0.9990733,0.00006595092,0.0003502966,0.0002302129,0.0001395002,0.0001408314],"domain_scores_gemma":[0.9989637,0.0002799093,0.0003680479,0.00007425097,0.0001664569,0.0001475677],"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":[0.00007625018,0.000108741,0.0139869,0.002670157,0.0001963873,0.942628,0.001027449,0.0002067503,0.002643929,0.000602603,0.00568637,0.03016653],"study_design_scores_gemma":[0.00001279404,0.00004330658,0.01078962,0.0007138955,0.000229904,0.9716349,0.00104724,0.0001123974,0.0003761237,0.0003487691,0.01464541,0.00004564056],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2802541,0.6716358,0.00454786,0.006990977,0.003664066,0.0002806264,0.0007613979,0.0004316969,0.03143338],"genre_scores_gemma":[0.5900235,0.3919045,0.002403666,0.004694412,0.006416415,0.00006561641,0.0007516135,0.00007137676,0.003668947],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006554527,"threshold_uncertainty_score":0.007903218,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1023087204559627,"score_gpt":0.3616064886532033,"score_spread":0.2592977681972405,"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."}}