Comparison of interleukin levels and hammersmith functional test results in serum and cerebrospinal fluid (CSF) before and during treatment in adult patients with spinal muscular atrophy

Spinal muscular atrophy (SMA) is an inherited neuromuscular disease, muscle weakness and atrophy are observed as a result of the loss of motor neurons. SMA is resulting in deficiency of the survival motor protein caused by deletion or mutations in the SMN1 gene. SMN2, a telomeric copy of the SMN1 gene, cannot prevent the disease. The SMN2 gene is targeted to increase the amount of SMN protein in treatment. Nusinersen is an antisense oligonucleotide that alters the mRNA splicing of the SMN2 gene, thereby increasing the production of the full-length and stable SMN protein. In this study, Hammersmith functional test was performed in 21 patients receiving Nusinersen therapy, which is the first drug for the treatment of SMA and interleukin IL-1, IL-6, IL-8 and IL-12 levels were measured from blood and cerebrospinal fluid samples taken before and after treatment. Keywords: SMA, Nusinersen, interleukin, HFMSE