PDF(Pubmed)
Abstract：
Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders that currently have no cure. HSP type 11 (SPG11-HSP) is a complex form carrying mutations in the SPG11 gene. Neuropathological studies demonstrate that motor deficits in these patients are mainly attributed to axonal degeneration of the corticospinal tract (CST). Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive technique that can induce central nervous system plasticity and promote neurological recovery by modulating the excitability of cortical neuronal cells. Although rTMS is expected to be a therapeutic tool for neurodegenerative diseases, no previous studies have applied rTMS to treat motor symptoms in SPG11-HSP. Here, we report a case of SPG11-HSP with lower extremity spasticity and gait instability, which were improved by applying high-frequency rTMS (HF-rTMS) at the primary motor cortex (M1). Clinical and physiological features were measured throughout the treatment, including the Modified Ashworth Scale (MAS), Berg Balance Scale (BBS), the timed up and go (TUG) test and the 10-meter walk test time (10 MWT). The structure and excitability of the CST were assessed by diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS), respectively. After treatment, the patient gained 17 points of BBS, along with a gradual decrease in MAS scores of the bilateral lower extremity. In addition, the TUG test and 10 MWT improved to varying degrees. TMS assessment showed increased motor evoked potential (MEP) amplitude, decreased resting motor threshold (RMT), decreased central motor conduction time (CMCT), and decreased difference in the cortical silent period (CSP) between bilateral hemispheres. Using the DTI technique, we observed increased fractional anisotropy (FA) values and decreased mean diffusivity (MD) and radial diffusivity (RD) values in the CST. It suggests that applying HF-rTMS over the bilateral leg area of M1 (M1-LEG) is beneficial for SPG11-HSP. In this study, we demonstrate the potential of rTMS to promote neurological recovery from both functional and structural perspectives. It may provide a clinical rationale for using rTMS in the rehabilitation of HSP patients.
摘要：
遗传性痉挛性截瘫（HSP）是一组异质性的遗传性神经退行性疾病，目前尚无治愈方法。HSP类型11(SPG11-HSP)是在SPG11基因中携带突变的复杂形式。神经病理学研究表明，这些患者的运动缺陷主要归因于皮质脊髓束（CST）的轴突变性。重复经颅磁刺激（rTMS）是一种非侵入性技术，可以通过调节皮质神经元细胞的兴奋性来诱导中枢神经系统可塑性并促进神经恢复。尽管rTMS有望成为神经退行性疾病的治疗工具，以前没有研究应用rTMS治疗SPG11-HSP的运动症状。这里,我们报告一例SPG11-HSP伴下肢痉挛和步态不稳定，通过在初级运动皮层（M1）应用高频rTMS（HF-rTMS）来改善。在整个治疗过程中测量临床和生理特征，包括改良的Ashworth量表(MAS)，伯格平衡量表（BBS），定时和走（TUG）测试和10米步行测试时间（10MWT）。通过扩散张量成像（DTI）和经颅磁刺激（TMS）评估CST的结构和兴奋性，分别。治疗后,患者获得了17点BBS，随着双侧下肢MAS评分逐渐降低。此外,TUG测试和10MWT都有不同程度的改善。TMS评估显示运动诱发电位（MEP）振幅增加，降低静息运动阈值(RMT)，中央电机传导时间（CMCT）减少，双侧半球之间的皮质沉默期（CSP）差异减小。使用DTI技术，我们观察到CST中分数各向异性（FA）值增加，平均扩散系数（MD）和径向扩散系数（RD）值降低。这表明在M1的双侧腿区域（M1-LEG）上应用HF-rTMS对SPG11-HSP有益。在这项研究中,我们从功能和结构两方面证明了rTMS促进神经系统恢复的潜力.它可能为在HSP患者的康复中使用rTMS提供临床依据。
