PDF(Pubmed)
Abstract：
5q-Spinal muscular atrophy (5q-SMA) is one of the most common neuromuscular diseases due to homozygous mutations in the SMN1 gene. This leads to a loss of function of the SMN1 gene, which in the end determines lower motor neuron degeneration. Since the generation of the first mouse models of SMA neuropathology, a complex degenerative involvement of the neuromuscular junction and peripheral axons of motor nerves, alongside lower motor neurons, has been described. The involvement of the neuromuscular junction in determining disease symptoms offers a possible parallel therapeutic target. This narrative review aims at providing an overview of the current knowledge about the pathogenesis and significance of neuromuscular junction dysfunction in SMA, circulating biomarkers, outcome measures and available or developing therapeutic approaches.
摘要：
5q-脊髓性肌萎缩症(5q-SMA)是由于SMN1基因中的纯合突变引起的最常见的神经肌肉疾病之一。这导致SMN1基因的功能丧失，这最终决定了较低的运动神经元退化。自从第一个SMA神经病理学小鼠模型产生以来，神经肌肉接头和运动神经周围轴突的复杂退行性受累，在较低的运动神经元旁边，已被描述。神经肌肉接头参与确定疾病症状提供了可能的平行治疗靶标。这篇叙述性综述旨在概述有关SMA中神经肌肉接头功能障碍的发病机制和意义的最新知识。循环生物标志物，结果测量和可用的或正在开发的治疗方法。
