Neurophysiological Evaluation of Autonomic Dysfunction in Spinal Muscular Atrophy: A Case-Control Study

IF 2.9 3区医学 Q2 CLINICAL NEUROLOGY

Acta Neurologica Scandinavica Pub Date : 2024-01-08 DOI:10.1155/2024/6575677

Marianna Papadopoulou, Christina Zompola, Georgia Papagiannopoulou, Aikaterini Theodorou, Vasiliki Zouvelou, George K. Papadimas, Christos Moschovos, Georgios Tsivgoulis

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Abstract

Introduction. Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing lower motor neuron degeneration leading to weakness and muscle atrophy due to reduction of survival motor neuron (SMN) protein. Although SMA was considered an exclusively motor neuron disease, few reports indicate the involvement of nonmotor neurons. The aim of this study is to investigate autonomous nervous system (ANS) involvement in SMA. Materials and Methods. We investigated 9 SMA adult patients and 36 age- and sex-matched controls. ANS was evaluated by sympathetic skin response (SSR). Results. SSR was not elicited in 28% of measurements in cases and in 0% of measurements in controls (p < 0.001). Both palmar (p < 0.001) and plantar (p < 0.001) SSR latencies were significantly longer in cases than controls. Palmar SSR amplitudes were smaller (p = 0.036) in patients compared to controls. Conclusions. This study provides new evidence of ANS dysfunction in SMA patients.

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脊髓肌肉萎缩症患者自主神经功能障碍的神经生理学评估：病例对照研究

简介脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，由于存活运动神经元（SMN）蛋白的减少，导致下运动神经元变性，引起肌肉无力和萎缩。尽管 SMA 被认为是一种纯粹的运动神经元疾病，但很少有报告显示非运动神经元也参与其中。本研究旨在调查自主神经系统（ANS）参与 SMA 的情况。材料和方法。我们调查了 9 名 SMA 成年患者和 36 名年龄和性别匹配的对照组。通过交感神经皮肤反应（SSR）评估自律神经系统。结果。在 28% 的病例和 0% 的对照组测量中未引起 SSR（p<0.001）。病例的手掌（p<0.001）和足底（p<0.001）SSR潜伏期明显长于对照组。与对照组相比，患者的掌侧 SSR 振幅较小（p=0.036）。结论。本研究提供了 SMA 患者自律神经系统功能障碍的新证据。

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来源期刊

Acta Neurologica Scandinavica 医学-临床神经学

CiteScore

6.70

自引率

2.90%

发文量

161

审稿时长

4-8 weeks

期刊介绍： Acta Neurologica Scandinavica aims to publish manuscripts of a high scientific quality representing original clinical, diagnostic or experimental work in neuroscience. The journal''s scope is to act as an international forum for the dissemination of information advancing the science or practice of this subject area. Papers in English will be welcomed, especially those which bring new knowledge and observations from the application of therapies or techniques in the combating of a broad spectrum of neurological disease and neurodegenerative disorders. Relevant articles on the basic neurosciences will be published where they extend present understanding of such disorders. Priority will be given to review of topical subjects. Papers requiring rapid publication because of their significance and timeliness will be included as ''Clinical commentaries'' not exceeding two printed pages, as will ''Clinical commentaries'' of sufficient general interest. Debate within the speciality is encouraged in the form of ''Letters to the editor''. All submitted manuscripts falling within the overall scope of the journal will be assessed by suitably qualified referees.