Neurology, SS Trinità Hospital, ASL Cagliari, Cagliari, Italy.
Department of Mechanical, Chemical and Materials Engineering, University of Cagliari, Cagliari, Italy.
Cerebellum. 2024 Jun;23(3):973-980. doi: 10.1007/s12311-023-01590-w. Epub 2023 Aug 4.
Spinocerebellar ataxia 38 (SCA 38) is a very rare autosomal dominant inherited disorder caused by a mutation in ELOV5 gene, specifically expressed in cerebellar Purkinje cells, encoding an enzyme involved in the synthesis of fatty acids. Seven symptomatic SCA 38 patients of a Sardinian family were administered 15 sessions of cerebellar anodal transcranial direct current stimulation (tDCS) in a cross-over study, employing deltoid cerebellar-only (C-tDCS) and cerebello-spinal (CS-tDCS) cathodal montage. Clinical evaluation was performed at baseline (T0), after 15 sessions of tDCS (T1) and after 1 month of follow-up (T2). Modified International Cooperative Ataxia Rating Scale (MICARS) and the Robertson dysarthria profile were used to rate ataxic and dysarthric symptoms, respectively. Alertness and split attention tests from Zimmermann test battery for attentional performance were employed to rate attentive functions. Moreover, 3D computerized gait analysis was employed to obtain a quantitative measure of efficacy of tDCS on motor symptoms. While clinical data showed that both CS and C-tDCS improved motor, dysarthric, and cognitive scores, the quantitative analysis of gait revealed significant improvement in spatio-temporal parameters only for C-tDCS treatment. Present findings, yet preliminary and limited by the small size of the tested sample, confirm the therapeutic potential of cerebellar tDCS in improving motor and cognitive symptoms in spinocerebellar ataxias and underline the need to obtain quantitative and objective measures to monitor the efficacy of a therapeutic treatment and to design tailored rehabilitative interventions. ClinicalTrials.gov identifier: NCT05951010.
脊髓小脑共济失调 38 型(SCA38)是一种非常罕见的常染色体显性遗传性疾病,由 ELOV5 基因突变引起,该基因特异性表达于小脑浦肯野细胞,编码参与脂肪酸合成的酶。在一项交叉研究中,对一个撒丁岛家族的 7 名有症状的 SCA38 患者进行了 15 次小脑阳极经颅直流电刺激(tDCS)治疗,采用三角肌小脑专用(C-tDCS)和小脑-脊髓(CS-tDCS)阴极电极为阴极。在基线(T0)、tDCS 治疗 15 次后(T1)和 1 个月随访后(T2)进行临床评估。使用改良的国际合作共济失调评分量表(MICARS)和罗伯逊构音障碍量表分别评定共济失调和构音障碍症状。采用齐默尔曼注意力表现测试包中的警觉和分心测试来评定注意力功能。此外,还采用 3D 计算机步态分析来获得 tDCS 对运动症状疗效的定量测量。虽然临床数据显示 CS 和 C-tDCS 均可改善运动、构音障碍和认知评分,但步态的定量分析仅显示 C-tDCS 治疗可显著改善时空参数。目前的发现,尽管初步且受到测试样本较小的限制,但证实了小脑 tDCS 治疗在改善脊髓小脑共济失调运动和认知症状方面的治疗潜力,并强调需要获得定量和客观的测量来监测治疗效果,并设计量身定制的康复干预措施。ClinicalTrials.gov 标识符:NCT05951010。