
CNS Neuroscience & Therapeutics, Год журнала: 2024, Номер 30(4)
Опубликована: Апрель 1, 2024
Abstract Aims Classification of spinal muscular atrophy (SMA) is associated with the clinical prognosis; however, objective classification markers are scarce. This study aimed to identify metabolic in cerebrospinal fluid (CSF) children SMA types II and III. Methods CSF samples were collected from 40 patients (27 type 13 III) analyzed for metabolites. Results We identified 135 metabolites These lysine degradation arginine, proline, tyrosine metabolism. seven Hammersmith Functional Motor Scale: 4‐chlorophenylacetic acid, adb‐chminaca,(+/−)‐, dodecyl benzenesulfonic norethindrone acetate, 4‐(undecan‐5‐yl) benzene‐1‐sulfonic dihydromaleimide beta‐d‐glucoside, cinobufagin. Potential typing biomarkers, N‐cyclohexylformamide, cinobufagin, cotinine glucuronide, N‐myristoyl geranic benzene, 7,8‐diamino pelargonate, showed good predictive performance. Among these, arginine was unaffected by gene phenotype. Conclusion promising candidate prognostic factors SMA. also pathways severity assessments can help predict outcomes screening biomarkers.
Язык: Английский