关键词: International cooperative ataxia rating scale Magnetic resonance spectroscopy Repetitive transcranial magnetic stimulation Scale for the assessment and rating of ataxia Spinocerebellar ataxia type 3

来  源:   DOI:10.1016/j.heliyon.2023.e16190   PDF(Pubmed)

Abstract:
UNASSIGNED: Spinocerebellar ataxia type 3 (SCA3) is a common autosomal dominant hereditary ataxia, which is caused by a cytosine-adenine-guanine (CAG) repeat expansion on the causative gene ATXN3, usually with lower extremity ataxia as the first symptom, and effective treatment is scarce. Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive technique that regulates the cerebellum and the neural network connected to it.
UNASSIGNED: Herein, we report familial cases of SCA3 in two nephews and their aunt, each of whom was treated with high-frequency (5 Hz) rTMS. The rTMS treatment lasted 2 weeks, once daily for 5 consecutive days a week, about 20 minutes each session. The Scale for the Assessment and Rating of Ataxia (SARA), the International Cooperative Ataxia Rating Scale (ICARS), and proton magnetic resonance spectroscopy (1H-MRS) examination were evaluated before and after rTMS treatment.
UNASSIGNED: We found that the ICARS scores improved significantly (p = 0.04), and the NAA/Cr values were elevated in vermis and both cerebellar hemispheres after rTMS treatment.
UNASSIGNED: Our study suggested that high-frequency rTMS therapy can contribute to the improvement of cerebellar NAA/Cr value of SCA3 patients, and improve posture and gait as well as limb kinetic function in SCA3 patients.
摘要:
脊髓小脑性共济失调3型(SCA3)是一种常见的常染色体显性遗传性共济失调,它是由致病基因ATXN3上的胞嘧啶-腺嘌呤-鸟嘌呤(CAG)重复扩增引起的,通常以下肢共济失调为首发症状,有效的治疗是稀缺的。重复经颅磁刺激(rTMS)是一种非侵入性技术,可调节小脑及其连接的神经网络。
这里,我们报告了两个侄子和他们的姑姑的SCA3家族病例,每个人都接受了高频(5Hz)rTMS治疗。rTMS治疗持续2周,每天一次,每周连续5天,每次约20分钟。共济失调评估和评级量表(SARA),国际合作共济失调评定量表(ICARS),在rTMS治疗前后进行质子磁共振波谱(1H-MRS)检查。
我们发现ICARS得分显着提高(p=0.04),经rTMS治疗后,Vermis和两个小脑半球的NAA/Cr值升高。
我们的研究表明,高频rTMS治疗有助于改善SCA3患者的小脑NAA/Cr值,改善SCA3患者的姿势和步态以及肢体动力学功能。
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