Electrophysiological analysis of neuromuscular synaptic function in myasthenia gravis patients and animal models

• Published in: Experimental neurology Vol. 270; pp. 41 - 54
• Main Authors: Plomp, Jaap J., Morsch, Marco, Phillips, William D., Verschuuren, Jan J.G.M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2015
• Subjects: Acetylcholine receptor; Animals; Compound muscle action potential; Disease Models, Animal; Electromyography; Electrophysiology; Endplate; Humans; Mouse models; Muscle-specific kinase; Myasthenia gravis; Myasthenia Gravis - physiopathology; Neuromuscular junction; Neuromuscular Junction - anatomy & histology; Neuromuscular Junction - physiology; Synapse; Synaptic Transmission - physiology; Synapse; Myasthenia gravis; Mouse models; Compound muscle action potential; Electrophysiology; Electromyography; Endplate; Muscle-specific kinase; Neuromuscular junction; Acetylcholine receptor
• ISSN: 0014-4886; 1090-2430
• DOI: 10.1016/j.expneurol.2015.01.007

Study of the electrophysiological function of the neuromuscular junction (NMJ) is instrumental in the understanding of the symptoms and pathophysiology of myasthenia gravis (MG), an autoimmune disorder characterized by fluctuating and fatigable muscle weakness. Most patients have autoantibodies to the acetylcholine receptor at the NMJ. However, in recent years autoantibodies to other crucial postsynaptic membrane proteins have been found in previously ‘seronegative’ MG patients. Electromyographical recording of compound and single-fibre muscle action potentials provides a crucial in vivo method to determine neuromuscular transmission failure while ex vivo (miniature) endplate potential recordings can reveal the precise synaptic impairment. Here we will review these electrophysiological methods used to assess NMJ function and discuss their application and typical results found in the diagnostic and experimental study of patients and animal models of the several forms of MG. •Electrophysiological methods allow detailed study of neuromuscular synapse function.•Functional characterisation is crucial to understand the pathophysiology of myasthenia.•Electrophysiological assessment of experimental drug effects in models is clinically relevant.•This paper aims to provide guidance for electrophysiological study of myasthenic neuromuscular synapses.