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Motor neuron disease (MND) is characterised by progressive neurological deterioration and coexistence of upper and lower motor neuron signs. Over the past decade, evidence has emerged of unique pathophysiological processes, including glutamate-mediated excitotoxicity, which has resulted in the development of novel diagnostic investigations and uncovered potential therapeutic targets. Advances in genetics, including the recently discovered C9orf72 gene, have radically changed the pathological mindset, from MND being classified as a neuromuscular disease to one that MND forms a continuum with other primary neurodegenerative disorders, including frontotemporal dementia. The present review will highlight the improvements that have occurred in clinical care, in conjunction with recent scientific developments.

Original publication




Journal article


Intern Med J

Publication Date





1005 - 1013


amyotrophic lateral sclerosis, biomarker, clinical trial, motor neuron disease, pathophysiology, treatment, Biomarkers, C9orf72 Protein, Clinical Trials as Topic, Disease Progression, Exercise, Humans, Motor Neuron Disease, Nutritional Support, Proteins