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Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Methodol. Mar 26, 2016; 6(1): 56-64
Published online Mar 26, 2016. doi: 10.5662/wjm.v6.i1.56
Quo vadis motor neuron disease?
Rubika Balendra, Rickie Patani
Rubika Balendra, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
Rubika Balendra, Institute of Healthy Ageing, Genetics, Evolution and Environment, University College London, London WC1E 3BT, United Kingdom
Rubika Balendra, Rickie Patani, Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
Rickie Patani, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, United Kingdom
Rickie Patani, Euan MacDonald Centre for MND Research, Edinburgh EH16 4SB, United Kingdom
Author contributions: All authors contributed to this paper with conception and design of the study, literature review and analysis, drafting and critical revision and editing and final approval of the final version.
Supported by A Wellcome Trust Research Training Fellowship (107196/Z/15/Z); Wellcome Trust Clinician Scientist and an Anne Rowling Fellow in Regenerative Neurology.
Conflict-of-interest statement: No potential conflicts of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Rickie Patani, MD, PhD, Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, United Kingdom. rickie.patani@ucl.ac.uk
Telephone: +44-20-72780661
Received: November 28, 2015
Peer-review started: November 28, 2015
First decision: December 3, 2015
Revised: December 17, 2015
Accepted: January 8, 2016
Article in press: January 11, 2016
Published online: March 26, 2016
Processing time: 172 Days and 3.2 Hours
Abstract

Motor neuron disease (MND), also known as amyotrophic lateral sclerosis, is a relentlessly progressive neurodegenerative condition that is invariably fatal, usually within 3 to 5 years of diagnosis. The aetio-pathogenesis of MND remains unresolved and no effective treatments exist. The only Food and Drug Administration approved disease modifying therapy is riluzole, a glutamate antagonist, which prolongs survival by up to 3 mo. Current management is largely symptomatic/supportive. There is therefore a desperate and unmet clinical need for discovery of disease mechanisms to guide novel therapeutic strategy. In this review, we start by introducing the organizational anatomy of the motor system, before providing a clinical overview of its dysfunction specifically in MND. We then summarize insights gained from pathological, genetic and animal models and conclude by speculating on optimal strategies to drive the step change in discovery, which is so desperately needed in this arena.

Keywords: Motor neuron disease; Amyotrophic lateral sclerosis; Neurodegeneration; Disease models

Core tip: Motor neuron disease (MND) is a fatal neurodegenerative disorder with no known cure. Here we discuss the organization of the motor system and the clinical presentation of MND. We detail the diagnostic criteria for MND including electrophysiological studies and potential future diagnostic markers of disease. We discuss the staging of disease progression in MND. We then provide an overview of disease management and end with insights into molecular pathogenesis of the disease and the use of disease models.