Neuromuscular Disease Models and Analysis
Neuromuscular Disease Models and Analysis
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DOI：
10.1007/978-1-60761-058-8_20
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发表时间：
2010-01-01
期刊：
影响因子：
--
通讯作者：
Seburn, Kevin L.
中科院分区：
文献类型：
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作者：
Burgess, Robert W.;Cox, Gregory A.;Seburn, Kevin L.
神经肌肉疾病可能会影响周围神经元的生存，它们的轴突延伸到外围靶点，它们与这些靶点的突触连接，或者靶点本身。例如运动神经元病，如肌萎缩侧索硬化症，周围神经病，如夏科-玛丽-图斯病，肌无力和肌营养不良症。描述这些表型需要一种综合的方法，从组织学、解剖学和电生理学的角度对神经和肌肉进行检查。在这些水平观察到的缺陷可能与发病、严重程度和进展有关，如通过包括步态或握力等粗大运动表现测试的“生活质量测量”来评估。本章描述了评估小鼠神经肌肉疾病模型的方法，以及这些测试的解释如何因表型的相互关联而变得复杂。
Neuromuscular diseases call affect the survival of peripheral neurons, their axons extending to peripheral targets, their synaptic connections onto those targets, or the targets themselves. Examples include motor neuron diseases Such as amyotrophic lateral sclerosis, peripheral neuropathies, such as Charcot-Marie-Tooth diseases, myasthenias, and Muscular dystrophies. Characterizing these phenotypes ill mouse models requires an integrated approach, examining both the nerve and the muscle histologically, anatomically, and functionally by electrophysiology. Defects observed at these levels can be related back to onset, severity, and progression, as assessed by "quality-of-life measures" including tests of gross motor performance such as gait or grip strength. This chapter describes methods for assessing neuromuscular disease models in mice, and how interpretation of these tests call be complicated by the inter-relatedness of the phenotypes.