Motor Neurone Disease

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Group leader: Professor Karen E Morrison

Overview

Motor Neurone Disease (MND)/ Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease affecting the nerves that control movements.  Through the Birmingham MND Care and Research Centre we provide clinical services for people with MND and undertake clinical and laboratory research aiming to find treatments to improve the lives of people living with this currently incurable disease.

Our research group

Motor Neurone Disease, MND, also known as Amyotrophic Lateral Sclerosis, ALS, is the most common disorder of motor nerves in adults.  It usually presents in adult life, with limb weakness and/or difficulties with speech and swallowing.  There is no curative therapy:  life expectancy remains around 3 years from diagnosis.  Our clinical service to people living with MND is via the MND Clinic at the Queen Elizabeth Hospital.  This clinic, supported by the MND Association UK, is one of the largest MND clinics in the UK, and recognised internationally for its excellence in clinical care and clinical trials of novel therapies.

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Our laboratory research work focuses on molecular genetic studies, aiming to understand the underlying biological mechanisms in the disease so that effective treatments can be developed to slow down, or even halt, the characteristic motor nerve degeneration.  This work is underpinned by our large bank of DNA samples collected from people with MND and from their carers as control samples.  We investigate genetic variants that influence susceptibility to the disease, and also those variants that seem to directly cause the disease in the 10% of cases where the disease runs in families.

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Current Projects

Laboratory research projects:

  • Genome wide association studies in ALS
  • Genetic association studies of chromosome 9 in ALS
  • Investigation of C9ORFF72 hexanucleotide repeats in familial and sporadic ALS
  • Studies of C9ORF72 hexanucleotide repeat expansion in ALS with and without cognitive impairment
  • Studies of cognitive impairment in ALS
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Clinical research projects:

  • Epidemiological study of ALS (collaborative with University of Sheffield, UK and King's College London, UK)
  • Study of MND carers' attitudes and quality of life
  • Collaborative studies of sialorrhoea and its management and of the timing of placement of gastrostomy feeding tubes in MND (led by University of Sheffield, UK)
  • Therapeutic clinical trials, both pharmaceutical and investigator led

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Recent Publications

  • Oyebode J, Smith H-J, Morrison KE (2013).The personal experiences of partners of individuals with Motor Neurone Disease.  Amyotroph Lateral Scler Frontotemporal Degener  14(1):39-43. doi: 10.3109/17482968.2012.719236
  • Smith BN , Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortoba´gyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, ALM ten Asbroek A, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall HS, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JMB, Baas F, Andersen PM, Landers J, Brown Jr RH, Weale ME, Al-Chalabi A, Shaw CE (2012) The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. European Journal of Human Genetics [Epub ahead of print]. PMID: 22692064;  doi: 10.1038/ejhg.2012.98
  • Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I , Ruiz A, Boada M , Morón FJ, Lang AE, Marras C, Bruni A , Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L , Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis MA, Black SE,  Hazrati L-N, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E (2012) Investigation of C9orf72 in four neurodegenerative disorders. Archives of Neurology  10:1-8. PMID:  22964832; doi: 10.1001/archneurol.2012.2016
  • Majounie E, Renton AE, Mok K, Dopper E, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten J, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, The Chromosome 9-ALS/FTD Consortium, The French research network on FTLD/FTLD/ALS, The ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu C-S, Yeh T-H, Ishiura H, Takahashi Y, Tsuji S, Le Ber MD I, Brice A, Drepper C, Williams NI, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012) Frequency of the C9ORF72 hexanucleotide repeat expansion in ALS and FTD in diverse populations: a cross-sectional study. Lancet Neurology 11:323-330. PMID: 22406228
  • Al-Chalabi A, Shaw PJ, Young CA, Morrison KE, Murphy C, Thornhill M, Kelly J, Steen IN, Leigh PN on behalf of UKMND-LiCALS (2011) Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic lateral sclerosis (LiCALS) [Eudract number: 2008-006891-31] BMC Neurology 11:111. PMID: 21936930

Staff

Principal Investigators
Dr Hardev Pall
Dr Joanne Stockton 
Dr Zsuzsanna Nagy

Internal Collaborators
Dr Amanda Wood - School of Psychology, College of Life and Environmental Sciences

NHS Staff
Ms Heidi Jew, MND Liaison Nurse - University Hospitals Birmingham NHS Foundation Trust, UK
Ms Sarah Dhariwal, MND Research Nurse - University Hospitals Birmingham NHS Foundation Trust, UK)
Ms Lynne Savage, DeNDRoN MND Research Nurse - University Hospitals Birmingham NHS Foundation Trust, UK

External Collaborators
Professor Pamela Shaw - University of Sheffield, Sheffield, UK
Dr Chris MacDermott - University of Sheffield, Sheffield, UK
Dr Emily Goodall - University of Sheffield, Sheffield, UK
Professor Ammar Al-Chalabi - King’s College, London, UK
Professor Orla Hardiman - Trinity College, Dublin, Ireland
Dr John Landers - University of Massachusetts Medical School, Worcester, USA
Dr Joanna Collingwood - University of Warwick, Warwick, UK
Dr Janice Robertson - University of Toronto, Canada