Clinical and Molecular Aspects of Motor Neuron Disease

Clinical and Molecular Aspects of Motor Neuron Disease

Johnathan Cooper-Knock, Pamela Shaw, Thomas Jenkins
ISBN: 9781615044283 | PDF ISBN: 9781615044290
Copyright © 2013 | 60 Pages | Publication Date: 09/01/2013

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In this book, motor neuron disease (MND) shall refer to amyotrophic lateral sclerosis (ALS), the most common neurodegenerative disorder affecting both the upper and lower motor neurons. With the discovery of C9ORF72 expansions in approximately 10% of all MND cases, in certain populations, we stand at the brink of a new era of MND research and hopefully treatment facilitated by the ability to associate a relatively large group of patients with a similar disease mechanism. This review will summarise both current clinical management of MND and our present understanding of the molecular pathogenesis of MND. Study of C9ORF72-MND has the potential to rapidly advance both of these aspects in the coming years.

Table of Contents

Clinical Aspects of MND
Molecular Aspects of MND
References
Author Biographies

About the Author(s)

Johnathan Cooper-Knock, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK
Dr. Johnathan Cooper-Knock arrived at the Sheffield Institute for Translational Neuroscience in the UK in 2008 as an NIHR Academic Clinical Fellow and since that point has been researching motor neuron disease (MND) under the supervision of Professor Shaw, alongside his clinical training. Johnathan completed his medical degree at the University of Oxford where he first developed an interest in MND. In 2012, Johnathan was awarded a Clinical Research Training Fellowship funded jointly by the MRC and the MND Association. Through this fellowship he is working toward a PhD. The subject of his research is genetic variants of MND, in particular characterization of the recently discovered group of MND patients with a hexanucleotide repeat expansion of C9ORF72.

Pamela Shaw, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK
Professor Pam Shaw was previously a Wellcome Trust Senior Fellow in Clinical Science and Professor of Neurological Medicine at the University of Newcastle upon Tyne. In 2000, she was appointed as Professor of Neurology, University of Sheffield, Consultant Neurologist, Royal Hallamshire Hospital, Sheffield and Director of the Sheffield Care and Research Centre for Motor Neuron Disorders. She is currently also Director of the Sheffield Institute for Translational Neuroscience (SITraN). She is Associate Director, Chair of the Motor Neuron Disease Clinical Studies Group and former Experimental Medicine Lead for the UK Dementia and Neurodegenerative Diseases Clinical Research Network (DeNDRoN).

Since 1991, she has led a multidisciplinary programme of research investigating genetic, molecular, and neurochemical factors underlying neurodegenerative disorders of the human motor system and evaluating potential neuroprotective agents and improvements in symptomatic management in the clinic including care of the respiratory and nutritional complications of ALS/MND. Awards made to Professor Shaw include the Association of British Neurologists Sir Charles Symonds Prize (1991); American Academy of Neurology Sheila Essey Award (2001); Fellowships of the American Academy of Neurology (1997) and the American Neurological Association (2004); UK ACCEA Gold Award for Clinical Excellence 2005; the UK Royal College of Physicians Jean Hunter Prize (2006); Fellowship of the UK Academy of Medical Sciences (2007); the Forbes Norris ALS/MND International Alliance Award (2007); President of the North of England Neurological Association (2012); the Peggy and Gary Edwards ALS Distinguished Professorship, Houston USA (2012); Alfred Meyer's Memorial Award British Neuropathological Association (2013) and UK NIHR Senior Investigator Award (2013).

Thomas Jenkins, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK
Dr. Tom Jenkins is an NIHR Clinical Lecturer in Neurology based at the Sheffield Institute for Translational Neuroscience. He moved to Sheffield in 2009 after completing his PhD in Clinical Neuroscience at the Institute of Neurology, Queen Square, London. Dr. Jenkins' research interest is imaging mechanisms of damage and repair in neurological disease. His current projects are focused on using magnetic resonance imaging to decipher patterns of denervation and energy dysmetabolism in patients with motor neuron disease.

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