Brakemeier Svenja, Stolte Benjamin, Thimm Andreas, Kizina Kathrin, Totzeck Andreas, Munoz-Rosales Juan, Kleinschnitz Christoph, Hagenacker Tim
Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany.
Brain Sci. 2021 Sep 20;11(9):1244. doi: 10.3390/brainsci11091244.
The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and validated measurement instruments to assess it have not yet been established. Data on whether and how bulbar function changes under gene-based therapies in adult SMA patients are also unavailable. Here, we present data on the course of bulbar dysfunction assessed prospectively before nusinersen treatment initiation and 6 and 14 months later in 23 adult SMA patients using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R). While no improvement in bulbar scores was observed under treatment with nusinersen, the absence of a decline still implies a therapeutic effect of nusinersen on bulbar dysfunction. The results of this study aim to contribute to a standardized assessment of bulbar function in adult SMA patients, which may show therapeutic effects of gene-based therapies that are not evident from standard motor scores.
反义寡核苷酸药物诺西那生已被证明可改善脊髓性肌萎缩症（SMA）患者的躯干和肢体运动功能。球部功能障碍在SMA中很常见，但标准运动评分无法体现这一点，目前尚未建立用于评估球部功能障碍的有效测量工具。关于成年SMA患者在基于基因的治疗下球部功能是否以及如何变化的数据也尚未可知。在此，我们展示了23例成年SMA患者在开始使用诺西那生治疗前、治疗6个月后和14个月后，使用悉尼吞咽问卷（SSQ）和修订的肌萎缩侧索硬化功能评定量表（ALSFRS-R）球部亚评分对球部功能障碍病程进行前瞻性评估的数据。虽然在诺西那生治疗下未观察到球部评分改善，但未出现下降仍意味着诺西那生对球部功能障碍有治疗作用。本研究结果旨在促进对成年SMA患者球部功能的标准化评估，这可能显示出基于基因的治疗效果，而这些效果在标准运动评分中并不明显。
