Neurophysiological Characteristics in Type II and Type III 5q Spinal Muscular Atrophy Patients: Impact of Nusinersen Treatment

Abstract

Dan Li,1,* Na Sun,1,* Li Xiang,2 Jingjie Liu,2 Xueying Wang,1 Lin Yang,1,* Shaoping Huang1,* 1Department of Pediatrics, the Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, People’s Republic of China; 2Department of Neurology, the Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, People’s Republic of China*These authors contributed equally to this workCorrespondence: Shaoping Huang; Lin Yang, Department of Pediatrics, the Second Affiliated Hospital of Xi’an Jiaotong University, No. 157 Xiwu Road, Xi’an, Shaanxi, 710004, People’s Republic of China, Tel [phone], Email [email protected]; [email protected]: This study aimed to observe the neurophysiological characteristics of type II and type III 5q spinal muscular atrophy (SMA) patients and the changes in peripheral motor nerve electrophysiology after Nusinersen treatment, as well as the influencing factors.Methods: This single-center retrospective case–control study collected clinical data and peripheral motor nerve CMAP parameters from 42 5qSMA patients and 42 healthy controls at the Second Affiliated Hospital of Xi’an Jiaotong University (January 2021 to December 2022). It evaluated changes in motor function and CMAP amplitude before and after Nusinersen treatment.Results: Our investigation encompassed all symptomatic and genetically confirmed SMA patients, consisting of 32 type II and 10 type III cases, with a median age of 57 months (29.5 to 96 months). Comparative analysis with healthy controls revealed substantial reductions in CMAP amplitudes across various nerves in both type II and type III patients. Despite the administration of Nusinersen treatment for 6 or 14 months to the entire cohort, discernible alterations in motor nerve amplitudes were not observed, except for a significant improvement in younger patients (≤ 36 months) at the 14-month mark. Further scrutiny within the type II subgroup unveiled that individuals with a disease duration ≤ 12 months experienced a noteworthy upswing in femoral nerve amplitude, a statistically significant difference when compared to those with > 12 months of disease duration.Conclusion: Motor nerve amplitudes were significantly decreased in type II and type III 5q SMA patients compared to healthy controls. Nusinersen treatment showed better improvement in motor nerve amplitudes in younger age groups and those with shorter disease duration, indicating a treatment-time dependence.Keywords: 5q spinal muscular atrophy, neurophysiology, peripheral motor nerve, Nusinersen

Keywords

• 5q spinal muscular atrophy；neurophysiology；peripheral motor nerve；nusinersen