<br>Nusinersen 治疗有症状的脊髓性肌萎缩症儿童的运动单位变化,Journal of Neurology, Neurosurgery, and Psychiatry

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Nusinersen 治疗有症状的脊髓性肌萎缩症儿童的运动单位变化
Journal of Neurology, Neurosurgery, and Psychiatry ( IF 8.7 ) Pub Date : 2021-01-01 , DOI: 10.1136/jnnp-2020-324254
Didu Kariyawasam _{1,

2} , Arlene D'Silva ₂ , James Howells ₃ , Karen Herbert ₄ , Peter Geelan-Small ₅ , Cindy Shin-Yi Lin ₃ , Michelle Anne Farrar _{2,

6}

Affiliation

目的使用新型运动单位数量估计技术阐明有症状的脊髓性肌萎缩症 (SMA) 儿童对鞘内注射 nusinersen 的运动单位反应。方法 MScanFit MUNE 研究是在 2017 年 6 月至 2019 年 8 月期间在单一神经肌肉中心接受 nusinersen 鞘内治疗的前瞻性 SMA 儿童队列中，刺激正中神经后，从拇短展肌连续进行。电生理测量包括复合疗法肌肉动作电位 (CMAP)、运动单位数量估计 (MUNE)、占 CMAP 50%–100% 的运动单位数量 (N50) 以及附带神经支配的测量，包括最大单个运动单位电位 (LSMUP) 和最小单位的振幅为 N50 (A50) 做出贡献。结果 20 名儿童（中位年龄 99 个月，范围 4-193）接受随访，中位时间为 13.8 (4-33.5) 个月。治疗干预是 CMAP (p = 0.005)、MUNE (p = 0.001) 和 N50 (p = 0.04) 增加的独立且显着的因素。病程较短的儿童的这种电生理反应的强度增加（p<0.05）。电生理变化将功能稳定的儿童与运动功能获得临床显着改善的儿童区分开来。解释 Nusinersen 疗法通过恢复较小的运动单位促进 SMA 的功能神经支配。描述治疗反应的生物机制可能是确定治疗这种疾病和其他运动神经病疾病的潜在新靶点的第一步。 MScanFit MUNE 技术可能在建立类似成人发病疾病的治疗反应生物标志物方面发挥更广泛的作用。

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Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen

Objectives To elucidate the motor unit response to intrathecal nusinersen in children with symptomatic spinal muscular atrophy (SMA) using a novel motor unit number estimation technique. Methods MScanFit MUNE studies were sequentially undertaken from the abductor pollicis brevis muscle after stimulation of the median nerve in a prospective cohort of symptomatic children with SMA, undergoing intrathecal treatment with nusinersen at a single neuromuscular centre from June 2017 to August 2019. Electrophysiological measures included compound muscle action potential (CMAP), motor unit number estimation (MUNE), motor unit number contributing to 50%–100% of CMAP (N50) and measures of collateral reinnervation including largest single motor unit potential (LSMUP) and amplitude of the smallest unit contributing to N50 (A50). Results Twenty children (median age 99 months, range 4–193) were followed for a median of 13.8 (4–33.5) months. Therapeutic intervention was an independent and significant contributor to an increase in CMAP (p = 0.005), MUNE (p = 0.001) and N50 (p = 0.04). The magnitude of this electrophysiological response was increased in children with shorter disease durations (p<0.05). Electrophysiological changes delineated children who were functionally stable from those who attained clinically significant gains in motor function. Interpretation Nusinersen therapy facilitated functional innervation in SMA through recovery of smaller motor units. Delineation of biomechanisms of therapeutic response may be the first step in identifying potential novel targets for disease modification in this and other motor neuropathies. MScanFit MUNE techniques may have a broader role in establishing biomarkers of therapeutic response in similar adult-onset diseases.

更新日期：2020-12-15

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