Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy

Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels cerebrospinal fluid, which is a reliable marker neuronal damage, after loading dose nusinersen different types spinal muscular atrophy. Materials Methods: We analyzed atrophy types, number copies SMN2 gene, progression motor status using specific function scales group 38 patients with 1, 2, 3. Results: found significant inverse correlation between patient age, progress on functional scales, administration. Our results also revealed that neurofilament fluid were higher 2 than those more copies, although association not statistically due abnormal distribution values. Conclusions: identified several predictors favorable evolution under treatment, including type children aged ≤ 30 months, presence only SMN2. provides important insights into use as biomarker monitor disease responses treatment