Ha James C, Richman David P
Department of Neurology, University of California, Davis, United States.
Biochim Biophys Acta. 2015 Apr;1852(4):651-7. doi: 10.1016/j.bbadis.2014.11.022. Epub 2014 Dec 6.
Disorders affecting the presynaptic, synaptic, and postsynaptic portions of the neuromuscular junction arise from various mechanisms in children and adults, including acquired autoimmune or toxic processes as well as genetic mutations. Disorders include autoimmune myasthenia gravis associated with acetylcholine receptor, muscle specific kinase or Lrp4 antibodies, Lambert-Eaton myasthenic syndrome, nerve terminal hyperexcitability syndromes, Guillain Barré syndrome, botulism, organophosphate poisoning and a number of congenital myasthenic syndromes. This review focuses on the various molecular and pathophysiological mechanisms of these disorders, characterization of which has been crucial to the development of treatment strategies specific for each pathogenic mechanism. In the future, further understanding of the underlying processes may lead to more effective and targeted therapies of these disorders. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.
影响神经肌肉接头突触前、突触和突触后部分的疾病在儿童和成人中由多种机制引起，包括获得性自身免疫或毒性过程以及基因突变。这些疾病包括与乙酰胆碱受体、肌肉特异性激酶或Lrp4抗体相关的自身免疫性重症肌无力、兰伯特-伊顿肌无力综合征、神经末梢兴奋性过高综合征、格林-巴利综合征、肉毒中毒、有机磷中毒以及一些先天性肌无力综合征。本综述重点关注这些疾病的各种分子和病理生理机制，对其特征的了解对于针对每种致病机制制定治疗策略至关重要。未来，对潜在过程的进一步了解可能会带来对这些疾病更有效、更有针对性的治疗。本文是名为：神经肌肉疾病：病理学与分子发病机制的特刊的一部分。
