title: Motor neuron disease: current management and future prospects.
abstract: 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.
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: N G
authors.initials: NG
authors.lastname: Simon
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: W
authors.initials: W
authors.lastname: Huynh
authors.affiliation: Westmead Clinical School, C24 Westmead Hospital, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Vucic
authors.affiliation: Division of Clinical Neurology, University of Oxford, Oxford, UK.
authors.forename: K
authors.initials: K
authors.lastname: Talbot
authors.affiliation: Brain and Mind Research Institute, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: M C
authors.initials: MC
authors.lastname: Kiernan
mesh_terms: D015415:Biomarkers; D000073885:C9orf72 Protein; D002986:Clinical Trials as Topic; D018450:Disease Progression; D015444:Exercise; D006801:Humans; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*; D018529:Nutritional Support; D011506:Proteins / Q000235:genetics*
chemical_list: D015415:Biomarkers; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: amyotrophic lateral sclerosis; biomarker; clinical trial; motor neuron disease; pathophysiology; treatment