Professor Chris McDermott
MBChB, FRCP, PhD
Department of Neuroscience
Head of Department
Professor of Translational Neurology
Honorary Consultant Neurologist
c.j.mcdermott@sheffield.ac.uk
+44 114 222 2295
+44 114 222 2295
+44 114 226 1049
(Medical NHS Secretary: Erica Waines)
385a Glossop Road
Full contact details
Professor Chris McDermott
Department of Neuroscience
385a Glossop Road
Sheffield
S10 2HQ
Department of Neuroscience
385a Glossop Road
Sheffield
S10 2HQ
- Profile
-
Prof McDermott studied for his medical degree at the University in Leeds graduating in 1994. He then continued is general medical and specialist neurology training in Leeds before taking up a clinical research training fellowship at the University of Newcastle upon Tyne.
He moved to the University of Sheffield with Professor Dame Pamela Shaw in 2000 to undertake his Wellcome Trust Research Training PhD Fellowship and to complete his Specialist Training in Neurology to become a Consultant Neurologist in 2006. Prof McDermott is now the Professor of Translational Neurology at SITraN and a Consultant Neurologist at the Sheffield Teaching Hospitals Foundation NHS Trust regularly undertaking specialist MND and neuromuscular clinics in Sheffield.
The main drive of Prof McDermott’s research programme is developing the evidence base for delivering supportive and symptomatic care for patients living with motor neuron disease.
He is also interested in studying mechanisms of neurodegeneration, in order to develop treatments for patients with motor neuron disease and hereditary spastic paraplegia.
- Qualifications
-
2018 - Present
Professor of Translational Neurology
Head of Department2017 - 2018
Professor of Translational Neurology
Academic Director for Neuroscience, Sheffield Teaching Hospitals NHS Foundation Trust2014 - 2016
Reader in Neurology
Academic Director for Neuroscience, Sheffield Teaching Hospitals NHS Foundation Trust2006 - 2013
Clinical Senior Lecturer in Neurology2002 - 2006
Specialist Training in Neurology (CCT), Sheffield
2000 - 2002
Wellcome Trust Research Training Fellowship (PhD), University of Sheffield
1998 - 2000
Clinical Research Fellow, University of Newcastle upon Tyne
1997 - 1998
Specialist Training in Neurology, Leeds
1994 - 1997
General professional training (MRCP), Leeds Teaching Hospitals
1989 - 1994
Medicine (MBChB), University of Leeds
- Research interests
-
Current Projects
- Investigating optimal respiratory support for patients with MND
- Establishing an evidence base for nutritional support in MND
- Designing and evaluating assistive technologies for patients with neuromuscular weakness
- Developing and evaluating novel service delivery mechanisms for patients with long term neurological conditions
- Genetic and phenotypic characterisation of motor system disorders
- Natural history study of motor system disorders
- Collaborating with pharmaceutical companies in Phase 1-3 studies
- Improving symptomatic management for patients with MND
- Epidemiology of motor neuron disease
- Publications
-
Journal articles
- Informal caregivers in amyotrophic lateral sclerosis : a multi-centre, exploratory study of burden and difficulties. Brain Sciences, 11(8). View this article in WRRO
- Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.. J Neurol Neurosurg Psychiatry.
- An old friend who has overstayed their welcome : the ALSFRS-R total score as primary endpoint for ALS clinical trials. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
- Delivery of nutritional management services to people with amyotrophic lateral sclerosis (ALS).. Amyotroph Lateral Scler Frontotemporal Degener, 1-10.
- The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS). BMC Medicine, 19(1).
- ALSUntangled 55: vitamin E (α-tocopherol). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(1-2), 154-160.
- ALSUntangled 57: Vinpocetine. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(3-4), 316-319.
- ALSUntangled #61: melatonin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
- Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale. Journal of the Neurological Sciences, 421, 117285-117285.
- Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
- The impact of gastrostomy feeding on the lives of patients: A systematic review. Clinical Nutrition ESPEN, 40, 519-519.
- Modelling and analysis of electrical impedance myography of the lateral tongue. Physiological Measurement, 41(12).
- Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 383(2), 109-119. View this article in WRRO
- TRICALS: creating a highway toward a cure. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
- Developing a web-based patient decision aid for gastrostomy in motor neurone disease. Clinical Nutrition ESPEN, 35, 235-235.
- Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis. Clinical Neurophysiology. View this article in WRRO
- Correction to: Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature. Journal of Neurology, 267(3), 616-617.
- Correction to: Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology, 267(1), 257-258.
- ALSUntangled 56: “ten red flags”-things to be wary of in alternative or off-label products. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(7-8), 642-647.
- Developing the evidence base for the management of drooling. Developmental Medicine & Child Neurology, 62(3), 270-270.
- Stay at home with the amyotrophic lateral sclerosis functional rating scale. Journal of Neurology, Neurosurgery & Psychiatry, 91(1), 7-7.
- Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature. Journal of Neurology, 267(3), 607-615.
- Developing a web-based patient decision aid for gastrostomy in motor neuron disease : a study protocol. BMJ Open, 9(12). View this article in WRRO
- Interventions to promote oral nutritional behaviours in people living with neurodegenerative disorders of the motor system : a systematic review. Clinical Nutrition. View this article in WRRO
- Using telehealth in motor neuron disease to increase access to specialist multidisciplinary care : a UK-based pilot and feasibility study. BMJ Open, 9(10). View this article in WRRO
- Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre. BMJ Open, 9. View this article in WRRO
- Health care professionals’ views on psychological factors affecting nutritional behaviour in people with motor neuron disease : a thematic analysis. British Journal of Health Psychology. View this article in WRRO
- Clinical trials in amyotrophic lateral sclerosis. Current Opinion in Neurology, 32(5), 758-763.
- Tracheostomy in motor neurone disease. Practical Neurology, 19(6), 467-475.
- The optimisation of non-invasive ventilation in amyotrophic lateral sclerosis : a systematic review. European Respiratory Journal. View this article in WRRO
- Optimizing the noninvasive ventilation pathway for patients with amyotrophic lateral sclerosis/motor neuron disease: a systematic review. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. View this article in WRRO
- The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(5-6), 317-327.
- Use of coping strategies in MND/ALS: Association with demographic and disease‐related characteristics. Acta Neurologica Scandinavica, 140(2), 131-139.
- Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials. Neurology. View this article in WRRO
- Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. Cell Reports, 26(9), 2298-2306.e5. View this article in WRRO
- Physicians’ attitudes toward end-of-life decisions in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(1-2), 74-81.
- Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurology Genetics, 4(6), e279-e279. View this article in WRRO
- Communication change in ALS: engaging people living with ALS and their partners in future research. Disability and Rehabilitation: Assistive Technology. View this article in WRRO
- Regional variation of Guillain-Barré syndrome. Brain, 141(10), 2866-2877.
- ALSUntangled 43: copper. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(5-6), 472-476.
- Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis. Clinical Biomechanics, 57, 114-120. View this article in WRRO
- Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. The Lancet Neurology, 17(5), 423-433. View this article in WRRO
- Imaging muscle as a potential biomarker of denervation in motor neuron disease. Journal of Neurology, Neurosurgery, and Psychiatry, 89, 248-255. View this article in WRRO
- The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(5-6), 351-361. View this article in WRRO
- A comfort assessment of existing cervical orthoses. Ergonomics, 61(2), 329-338. View this article in WRRO
- ALSUntangled 41: “Eric Is Winning”. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(1-2), 157-160.
- Development and validation of Spasticity Index-Amyotrophic Lateral Sclerosis. Acta Neurologica Scandinavica, 138(1), 47-54.
- PO198 The value of patient and public involvement in research in motor neurone disease. Journal of Neurology, Neurosurgery & Psychiatry, 88(Suppl 1), A63.4-A64.
- Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience, 10, 370-370. View this article in WRRO
- July 2017 ENCALS statement on edaravone. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4. View this article in WRRO
- Withdrawal of tracheostomy ventilation in motor neurone disease: implementing advance directives. Practical Neurology, 17(5), 339-340.
- Withdrawal of ventilation at the patient's request in MND: a retrospective exploration of the ethical and legal issues that have arisen for doctors in the UK. BMJ Supportive & Palliative Care, 7(2), 189-196. View this article in WRRO
- The development of the UK National Institute of Health and Care Excellence evidence-based clinical guidelines on motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 313-323. View this article in WRRO
- Decision-making and referral processes for patients with motor neurone disease: a qualitative study of GP experiences and evaluation of a new decision-support tool. BMC Health Services Research, 17. View this article in WRRO
- Management of oral secretions in neurological disease.. Practical Neurology, 17(2), 96-103. View this article in WRRO
- “Anything that makes life’s journey better.” Exploring the use of digital technology by people living with motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 378-387. View this article in WRRO
- Costs of Family Caregiving in Palliative Care (COFAC) questionnaire: development and piloting of a new survey tool.. BMJ Supportive and Palliative Care. View this article in WRRO
- An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis. PLoS One. View this article in WRRO
- A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis && Frontotemporal Degeneration, 18(1-2), 1-9. View this article in WRRO
- Mechanical cough augmentation techniques in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database of Systematic Reviews, 2016(12). View this article in WRRO
- Enteral feeding in neurological disorders. Practical Neurology, 16, 352-361. View this article in WRRO
- Assessment of coupled movements in head movements performed by patients with Motor Neurone Disease. Gait & Posture, 49, S22-S22.
- Clinical aspects of motor neurone disease. Medicine, 44(9), 552-556. View this article in WRRO
- The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis. Muscle & Nerve, 54(3), 378-385. View this article in WRRO
- Supportive and symptomatic management of amyotrophic lateral sclerosis. Nature Reviews Neurology, 12, 526-538. View this article in WRRO
- DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.. Health Technol Assess, 20(45), 1-186. View this article in WRRO
- Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis. European Journal of Neurology, 23(6), 1071-1078.
- Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP‐43‐negative inclusions of C9ORF72‐ALS. Neuropathology, 36(2), 125-134. View this article in WRRO
- A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 325-336.
- Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review. Amyotrophic Lateral Sclerosis && Frontotemporal Degeneration, 17(5-6), 313-324. View this article in WRRO
- Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis?. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 377-384. View this article in WRRO
- Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness. Amyotrophic Lateral Sclerosis, 17(5-6), 436-442. View this article in WRRO
- Evidence-based or arrogance-based medicine?. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(3-4), 305-306.
- Rueing the Roux-en-Y. Practical Neurology, 16(3), 227-230.
- Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness. Clinical Biomechanics, 32, 201-206. View this article in WRRO
- The impact of gastrostomy in motor neurone disease: challenges and benefits from a patient and carer perspective.. BMJ Support Palliat Care, 6(1), 52-59.
- Gastrostomy in amyotrophic lateral sclerosis: effects of non-invasive ventilation – Authors' reply. The Lancet Neurology, 14(12), 1153-1153.
- A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 448-455. View this article in WRRO
- Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. The Lancet Neurology, 14(9), 883-892. View this article in WRRO
- Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 478-484. View this article in WRRO
- Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. The Lancet Neurology, 14(7), 702-709. View this article in WRRO
- Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.. Neuropathol Appl Neurobiol, 41(2), 201-226. View this article in WRRO
- Lifeline. The Lancet Neurology, 14(7), 690-690.
- Head-Up; An interdisciplinary, participatory and co-design process informing the development of a novel head and neck support for people living with progressive neck muscle weakness. Journal of Medical Engineering & Technology, 39(7), 404-410.
- Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(1-2), 108-113. View this article in WRRO
- Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.. Neuropathol Appl Neurobiol, 40(6), 670-685.
- The evidence for symptomatic treatments in amyotrophic lateral sclerosis. Current Opinion in Neurology, 27(5), 524-531.
- WITHDRAWAL OF VENTILATION AT THE PATIENT'S REQUEST IN MND: DOCTORS VIEWS ON THE ETHICAL CHALLENGES INVOLVED. BMJ Supportive & Palliative Care, 4(Suppl 1), A39.1-A39.
- WITHDRAWAL OF NIV AT THE PATIENT'S REQUEST IN MND: EXPLORATION OF THE ISSUES RELATED TO COMMUNICATION. BMJ Supportive & Palliative Care, 4(Suppl 1), A25.1-A25.
- Factors influencing decision-making in relation to timing of gastrostomy insertion in patients with motor neurone disease.. BMJ Support Palliat Care, 4(1), 57-63.
- TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.. Acta Neuropathol, 127(3), 407-418. View this article in WRRO
- A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening.. Dis Model Mech, 7(1), 73-81.
- The impact on the family carer of motor neurone disease and intervention with noninvasive ventilation.. J Palliat Med, 16(12), 1602-1609.
- Use of non-invasive ventilation at end of life.. Palliat Med, 27(9), 878.
- Neuro-ophthalmological complications of chronic inflammatory demyelinating polyradiculoneuropathy. Neuro-Ophthalmology, 37(4), 146-156.
- C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.. Neurology, 81(9), 808-811.
- A prospective pilot study measuring muscle volumetric change in amyotrophic lateral sclerosis.. Amyotroph Lateral Scler Frontotemporal Degener, 14(5-6), 414-423. View this article in WRRO
- Management of sialorrhoea in motor neuron disease: a survey of current UK practice.. Amyotroph Lateral Scler Frontotemporal Degener, 14(7-8), 521-527.
- Lithium in patients with amyotrophic lateral sclerosis (LiCALS): A phase 3 multicentre, randomised, double-blind, placebo-controlled trial. The Lancet Neurology, 12(4), 339-345.
- The use of non-invasive ventilation at end of life in patients with motor neurone disease: a qualitative exploration of family carer and health professional experiences.. Palliat Med, 27(6), 516-523. View this article in WRRO
- Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.. Neuropathol Appl Neurobiol, 39(5), 562-571. View this article in WRRO
- Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.. J Neurol Neurosurg Psychiatry, 84(1), 79-87.
- Gastrostomy use in motor neurone disease (MND): a review, meta-analysis and survey of current practice.. Amyotroph Lateral Scler Frontotemporal Degener, 14(2), 96-104.
- The initiation of non-invasive ventilation for patients with motor neuron disease: patient and carer perceptions of obstacles and outcomes.. Amyotroph Lateral Scler Frontotemporal Degener, 14(2), 105-110.
- The natural history of motor neuron disease: assessing the impact of specialist care.. Amyotroph Lateral Scler Frontotemporal Degener, 14(1), 13-19.
- Using transcutaneous carbon dioxide monitor (TOSCA 500) to detect respiratory failure in patients with amyotrophic lateral sclerosis: a validation study.. Amyotroph Lateral Scler, 13(6), 528-532.
- Respiratory management of motor neurone disease: a review of current practice and new developments.. Pract Neurol, 12(3), 166-176.
- Complementary therapies for people with motor neurone disease: extending a cancer care service. BMJ Supportive & Palliative Care, 2(Suppl 1), A102.3-A103.
- Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.. Brain, 135(Pt 3), 751-764.
- Clinical aspects of motor neurone disease. Medicine (United Kingdom), 40(10), 540-545.
- Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial.. BMC Neurol, 12, 74. View this article in WRRO
- The changing landscape of non-invasive ventilation in amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 83(4), 368-369.
- Non-invasive ventilation in motor neuron disease: An update of current UK practice. Journal of Neurology, Neurosurgery and Psychiatry, 83(4), 371-376.
- Non-invasive ventilation in motor neuron disease: an update of current UK practice.. J Neurol Neurosurg Psychiatry, 83(4), 371-376.
- Multiple sclerosis and amyotrophic lateral sclerosis - what is the link? A case series of six patients. MULTIPLE SCLEROSIS JOURNAL, 17, S472-S472.
- 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. View this article in WRRO
- Orphan Drugs Open letter to prime minister David Cameron and health secretary Andrew Lansley. BRIT MED J, 341.
- Non-invasive ventilation in motor neurone disease: an update of current UK practice. IRISH J MED SCI, 179, S497-S498.
- Validation of the historical adulthood physical activity questionnaire (HAPAQ) against objective measurements of physical activity. INT J BEHAV NUTR PHY, 7. View this article in WRRO
- Evaluation of two different methods for per-oral gastrostomy tube placement in patients with motor neuron disease (MND): PIG versus PEG procedures.. Amyotroph Lateral Scler, 11(6), 531-536.
- An evaluation of neurophysiological criteria used in the diagnosis of motor neuron disease.. J Neurol Neurosurg Psychiatry, 81(6), 646-649.
- Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.. Neurogenetics, 11(2), 217-225. View this article in WRRO
- Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.. Arch Neurol, 67(4), 455-461.
- Assessment and Diagnosis of Sensory Disturbance. InnovAiT: Education and inspiration for general practice, 2(9), 531-537.
- Physical activity as an exogenous risk factor in motor neuron disease (MND): a review of the evidence.. Amyotroph Lateral Scler, 10(4), 191-204.
- Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology, 72(17), 1534-1534.
- New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).. Neurogenetics, 10(2), 105-110.
- Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.. J Neurochem, 110(1), 34-44.
- HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.. Neurology, 70(19), 1717-1718.
- P159 Clinical and neurophysiological diagnostic features of hereditary neuropathy with liability to pressure palsies (HNPP) among patients with multiple neuropathies at common entrapment sites. Clinical Neurophysiology, 119, S111-S111.
- Diagnosis and management of motor neurone disease.. BMJ, 336(7645), 658-662.
- Clinical aspects of motor neurone disease. Medicine, 36(12), 640-645.
- Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. HUM MUTAT, 28(7), 739-740.
- Chapter 17 Hereditary spastic paraparesis. Handbook of Clinical Neurology, 82, 327-352.
- The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.. Hum Mol Genet, 15(18), 2763-2771.
- Clinical features of hereditary spastic paraplegia due to spastin mutation.. Neurology, 67(1), 45-51.
- Chapter 18 Hereditary Spastic Paraparesis, 435-462.
- Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.. Ann Neurol, 54(6), 748-759.
- The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.. J Neuropathol Exp Neurol, 62(11), 1166-1177.
- Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).. Amyotroph Lateral Scler Other Motor Neuron Disord, 4(2), 96-99.
- Investigation of mitochondrial function in hereditary spastic paraparesis.. Neuroreport, 14(3), 485-488.
- Investigation of mitochondrial function in hereditary spastic paraparesis. J NEUROL NEUROSUR PS, 73(2), 233-233.
- Hereditary spastic paraplegia.. Int Rev Neurobiol, 53, 191-204.
- Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis.. Neuroreport, 12(11), 2319-2322.
- Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.. Neurology, 56(4), 467-471.
- Genotype-phenotype correlation in hereditary spastic paraparesis. J NEUROL NEUROSUR PS, 70(2), 270-270.
- Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.. J Med Genet, 37(10), 759-765.
- Hereditary spastic paraparesis: a review of new developments.. J Neurol Neurosurg Psychiatry, 69(2), 150-160.
- Challenging the Established Order: Innovating Clinical Trials for Amyotrophic Lateral Sclerosis. Neurology, 10.1212/WNL.0000000000012545-10.1212/WNL.000000000.
- ALSUntangled #62: vitamin C. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
- The nutritional management of people living with Amyotrophic Lateral Sclerosis (ALS): A national survey of dietitians. Journal of Human Nutrition and Dietetics.
- ALSUntangled #60: light therapy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
- Improving clinical trial outcomes in amyotrophic lateral sclerosis. Nature Reviews Neurology.
- The stage is set for a new trial end point in ALS. Journal of Neurology, Neurosurgery & Psychiatry.
- Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
- Diaphragm pacing systems for amyotrophic lateral sclerosis / motor neuron disease. Cochrane Database of Systematic Reviews.
- Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology. View this article in WRRO
- Exploring patient and public involvement in motor neuron disease research. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
- Needs and preferences for psychological interventions of people with motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
- Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-8.
- Magnetic resonance spectroscopy reveals mitochondrial dysfunction in amyotrophic lateral sclerosis. Brain.
Chapters
- Public Policy in MND Care: The United Kingdom, Public Policy in ALS/MND Care (pp. 279-300). Springer Singapore
- Nutritional Support in Amyotrophic Lateral Sclerosis, Nutrition in Neurologic Disorders (pp. 91-104). Springer International Publishing
Conference proceedings papers
- 11.30 Mutations in the glycosyltransferase domain of GLT8D1 cause ALS. Journal of Neurology Neurosurgery & Psychiatry, Vol. 90(12) (pp e10)
- 222 Investigating directionality of neurodegeneration in vivo in ALS using multimodal MRI. Journal of Neurology Neurosurgery & Psychiatry, Vol. 90(12) (pp e55)
- Defining benign brachial monomelic amyotrophy: factors at presentation that differentiate from motor neurone disease. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 26 (pp 307-307)
- Monitoring and promoting effectiveness and adherence to non-invasive ventilation in motor neurone disease using Encore Anywhere telemonitoring: a pilot and feasibility, randomised controlled trial. NEUROLOGY, Vol. 92(15)
- Predicting benign brachial monomelic amyotrophy: factors at presentation that differentiate from amyotropic lateral sclerosis. NEUROLOGY, Vol. 92(15)
- Investigating Directionality of Neurodegeneration in vivo in ALS using Multimodal MRI. NEUROLOGY, Vol. 92(15)
- “Nothing about me, without me”. Using user-centred design to develop evidence-based solutions to common problems in Motor neurone disease. Annals of Physical and Rehabilitation Medicine, Vol. 61 (pp e521-e521)
- Imaging denervation in amyotrophic lateral sclerosis for future clinical trials: 12-month follow-up from a longitudinal cohort study. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 25 (pp 302-302)
- Mutations in SPG7 as an important cause of spastic-ataxia in a large british cohort: Hybrid phenotype helps direct screening. Journal of the Neurological Sciences, Vol. 381 (pp 304-305) View this article in WRRO
- Multidisciplinary care in amyotrophic lateral sclerosis – the evidence for effectiveness. Journal of the Neurological Sciences, Vol. 381 (pp 707-707)
- Imaging denervation in motor neuron disease for future clinical trials: a longitudinal cohort study. Journal of the Neurological Sciences, Vol. 381 (pp 102-102) View this article in WRRO
- The development of an evidence based guideline on the assessment and management of motor neurone disease/amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 23 (pp 646-646)
- SCREENING FOR RESPIRATORY FAILURE IN ALS USING CLINICAL QUESTIONING, RESPIRATORY FUNCTION TESTS AND TRANSCUTANEOUS CARBON DIOXIDE: WHICH IS THE BETTER TOOL?. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 86(11) (pp e4.54-e4) View this article in WRRO
- Elevated creatine kinase is associated with a better prognosis in patients with amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 22 (pp 741-741) View this article in WRRO
- Effects of cough augmentation on pulmonary morbidity, survival, and quality of life in patients with amyotrophic lateral sclerosis in respiratory failure: a randomised trial. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 22 (pp 244-244)
- ROLE OF COUGH AUGMENTATION IN AMYOTROPHIC LATERAL SCLEROSIS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 85(10) (pp e4.93-e4)
- Elevated creatine kinase suggests better prognosis in patients with amyotrophic lateral sclerosis.. J Neurol Neurosurg Psychiatry, Vol. 84(11) (pp e2). England
- Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease. LANCET, Vol. 381 (pp 32-32)
- CLINICAL EVALUATION OF TRANSCUTANEOUS CARBON DIOXIDE MONITOR (TOSCA) IN PATIENTS WITH MOTOR NEURONE DISEASE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83
- EXPERIENCE OF THE USE OF DIAPHRAGM PACING IN PATIENTS WITH RESPIRATORY IMPAIRMENT DUE TO MOTOR NEURONE DISORDERS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83(3)
- THE NATURAL HISTORY OF MOTOR NEURONE DISEASE (MND): ASSESSING THE IMPACT OF SPECIALIST CARE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83(3)
- CADASIL IN A MOTHER AND SON DUE TO A NOVEL MUTATION OF THE NOTCH-3 GENE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 81(11) (pp E50-E50)
- AN AUDIT OF NEUROPHYSIOLOGICAL CRITERIA USED IN THE DIAGNOSIS OF MOTOR NEURONE DISEASE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 80(11)
- CLINICAL AND NEUROPHYSIOLOGICAL SIMILARITIES BETWEEN TOXIC AND ACQUIRED INFLAMMATORY DEMYELINATING NEUROPATHIES: A REPORT OF TWO CASES. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 80(1) (pp 123-123)
- CLINICAL AND NEUROPHYSIOLOGICAL FINDINGS IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 80(1) (pp 101-102)
- Further insights into HSP and spastin: Severe complicated phenotypes and evidence of lower motor neurone dysfunction. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 77(1) (pp 137-137)
- Hereditary spastic paraparesis associated with mutation in spastin (SPG4): A disorder of axonal transport?. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 74(10) (pp 1453-1453)
- The results of screening all 17 exons of the spastin gene (SPG4) for autosomally dominantly transmitted Hereditary Spastic Paraplegia. JOURNAL OF MEDICAL GENETICS, Vol. 40 (pp S81-S81)
- Hereditary spastic paraparesis with amyotrophy and OXPHOS muscle defect associated with a deletion in the paraplegin (SPG7) gene with apparent autosomal dominant transmission. NEUROLOGY, Vol. 54(7) (pp A425-A425)
Reports
- NIV withdrawal guidance – published by Association of Palliative Medicine of GB and Northern Ireland.
Other
- Diaphragm pacing in patients with amyotrophic lateral sclerosis – Authors' reply. The Lancet Neurology, 15(6), 543-544.
- Informal caregivers in amyotrophic lateral sclerosis : a multi-centre, exploratory study of burden and difficulties. Brain Sciences, 11(8). View this article in WRRO
- Research group
-
- Esther Hobson
- Theocharis Stavroulakis
- Helen Wolff
- Mbombe Kazoka
- Lee Tuddenham
- Sarah Boddy
- Grants
-
Principal Funding Sources
- Motor Neurone Disease Association, UK
- National Institute of Health Research (NIHR)
- Marie Curie
- European Union
- Professional activities
-
- Head of Department, Neuroscience, University of Sheffield (2018 onwards)
- Chair of Association of British Neurologists MND Special Interest Group (2017 onwards)
- Member of Association of British Neurologists Neuromuscular Advisory Group (2018 onwards)
- Deputy Director of NIHR BRC Sheffield (2017 onwards)
- External Examiner Neuroscience MSc, Kings College London (2016 onwards)
- Expert Advisor for NICE (2016 onwards)
- Charitable Trustee for Neurocare (2016 onwards)
- Group Leader for the International ALS Clinical Trials Guidelines (2015 onwards).
- Chair of the NIHR DeNDRoN MND Clinical Studies Group (2015 onwards)
- Chair of the MND Association Clinical Advisory Board (2015 onwards)
- Member MND NICE Clinical Guidelines Development Group (2013 – 2016) and NICE Quality Assurance panel (2015 - 2016).
- Founding Course Leader – Clinical Neurology MSc, University of Sheffield 2011-2015
- Clinical Lead for Neurology, Sheffield Teaching Hospitals 2012-2014
- Member of NIHR RfPB (2010-2014) and MNDA healthcare research grant panels (2014 onwards).
- Representation of the Yorkshire and Humber region nationally on the Joint Royal College of Physician’s Specialty Advisory Committee (2008 - 2013).
- Training Programme Director for Neurology Yorkshire and Humber (2008-2012)
- Invited lectures
2017
- NICE Guidelines 1 year on Conference, London UK - Managing Symptoms in MND at the MND
- Association British Neurologists Meeting, Liverpool - Right to try
- MND Care Centre Meeting, Kettering - MyTube
- NIHR Annual CRF conference, Glasgow - User Centred Design
- Newcastle Neurosciences Meeting, Newcastle upon Tyne - MND A Journey through time and space
- MND Scotland meeting, Stirling - MND Clinical Research update
- Oxford Neurosciences Meeting, Oxford - MND Surviving the experts
2016
- Manchester Regional Neurosciences Centre – The evidence base for supportive Care in ALS.
- Newcastle upon Tyne, MND study day – Delivering evidence based care for individuals with ALS.
- Sheffield MND Study day – Recent developments in ALS care.
- St Christopher’s Hospice, London – Nutritional Care in ALS.
- Primary Care 2016, NEC, Birmingham – NICE guidelines for primary care.
2015
- British Thoracic Society, London – Diaphragmatic Pacing in ALS
- Difficult Lung Disease symposium, Sheffield – Neuromuscular disease for the respiratory physician.
- MNDA Care Centre meeting, Stafford - myNIV
- Association of palliative medicine neurological palliative care specialist interest forum, Manchester – What is new in MND.
- 1st UK PLS conference, Oxford – HSP and PLS
- WFN ALS meeting, Orlando – DiPALS results
2014
- MNDA Care Centre meeting, Stafford – Head Up
- Royal Society Medicine, London – The evidence base for symptomatic care in ALS
- MND Centre, Oxford – Update on symptomatic care.
- The Walton Centre, Liverpool - Update on symptomatic care.
- St Christopher’s Hospice, London – Head Up.
- Royal College of Physicians Regional Update, Sheffield – Neurology for the physician.
2013
- Plenary speaker: ENCALS, Sheffield - While we wait.
- MND Care Centre Directors meeting, Birmingham – Head Up and Secretion management
- St Christopher’s Hospice, London – Diaphragmatic Pacing
- The Walton Centre Regional Neurosciences Centre, Liverpool – Respiratory management of MND
2012
- Edinburgh Regional Neurosciences Centre - Respiratory management of MND
- Home Mechanical Ventilation Meeting, St Thomas Hospital, London – Role of Diaphragmatic Pacing
- Palliative Care Symposium, Leeds – Living with MND
- MNDA AGM – Developing the evidence base for clinical care in MND
2011
- Association of British Neurologists meeting – Clinical advances in MND
- European federation of neurological sciences, Lisbon – MND and its mimics
2010
- European Federation of Neurological Sciences, Rhodes - Lump or Split?
- MNDA Birmingham – Diaphragmatic Pacing in MND
- Nutrition Course, Leeds – Nutrition in MND
2009
- Leeds MNDA centre opening – Hereditary spastic paraparesis