Utility of Transcranial Magnetic Simulation in Studying Upper Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is characterised by progressive dysfunction of the upper and lower motor neurons. The disease can evolve over time from focal limb or bulbar onset to involvement of other regions. There is some clinical heterogeneity in ALS with various phenotypes of the disease described, from primary lateral sclerosis, progressive muscular atrophy and flail arm/leg phenotypes. Whilst the majority of ALS patients are sporadic in nature, recent advances have highlighted genetic forms of the disease. Given the close relationship between ALS and frontotemporal dementia, the importance of cortical dysfunction has gained prominence. Transcranial magnetic stimulation (TMS) is a noninvasive neurophysiological tool to explore the function of the motor cortex and thereby cortical excitability. In this review, we highlight the utility of TMS and explore cortical excitability in ALS diagnosis, pathogenesis and insights gained from genetic and variant forms of the disease.

Automated summary

ALS is characterized by progressive dysfunction of upper and lower motor neurons, with clinical heterogeneity in various phenotypes including primary lateral sclerosis, progressive muscular atrophy, and flail arm/leg phenotypes. Transcranial magnetic stimulation (TMS) is a noninvasive tool to explore motor cortex function and cortical excitability, playing an important role in ALS diagnosis, pathogenesis, and insights gained from genetic and variant forms of the disease.