{"id":"W4409086448","doi":"10.1007/s00415-025-12997-2","title":"Natural history of adult-onset metachromatic leukodystrophy","year":2025,"lang":"en","type":"letter","venue":"Journal of Neurology","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"Orchard","keywords":"Metachromatic leukodystrophy; Leukodystrophy; Natural history; Neurology; Neuroradiology; Medicine; Arylsulfatase A; Neuroscience; Psychology; Pathology; Psychiatry; Disease; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003195754,0.0002951816,0.0003689489,0.0006468996,0.0009140596,0.0005607159,0.000372809,0.001850495,0.001551781],"category_scores_gemma":[0.002154029,0.0002252507,0.0002356226,0.0005027518,0.0006209583,0.0006698058,0.0003417171,0.00104843,0.0003578311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000416295,"about_ca_system_score_gemma":0.0002885135,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001208096,"about_ca_topic_score_gemma":0.001151403,"domain_scores_codex":[0.9998422,0.00003622714,0.00001585695,0.00003593384,0.00002629844,0.00004343312],"domain_scores_gemma":[0.9987884,0.0004210541,0.0002479377,0.00008755195,0.0000938502,0.0003613125],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001257695,0.0002166605,0.455113,0.00004536827,0.0000448855,0.5192568,0.0005512022,0.0002588455,0.003769112,0.001182317,0.003080751,0.01522333],"study_design_scores_gemma":[0.00004274246,0.0004525023,0.2644624,0.00003935285,0.00004293742,0.729937,0.0003225833,0.0006433452,0.0002877532,0.001152063,0.002590746,0.00002653583],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.9838774,0.001759937,0.0004408055,0.003861377,0.0001052198,0.00002261448,0.0002582486,0.0000432233,0.009631213],"genre_scores_gemma":[0.9978741,0.0003578652,0.0001219823,0.0007261097,0.0002001425,0.000005521944,0.00008117819,0.000004569295,0.0006285619],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.001850495,"threshold_uncertainty_score":0.005191207,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007128469210253002,"score_gpt":0.2249379010617019,"score_spread":0.2178094318514489,"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."}}