Research outputs from the Neurology department at the RD&E.

Recent Submissions

  • Bickerstaff brainstem encephalitis: clinical, neurophysiological, laboratory and postmortem findings of a case presenting as encephalomyelitis 

    Imam, I.; Sarrigiannis, P. G.; Shivane, A. G. (BMJ, 2022-02-02)
    Our patient was admitted to hospital with a 1-week history of an upper respiratory tract infection and a rapidly progressive encephalopathy dominated by brainstem features and widespread areflexia. Her antiganglioside ...
  • A multiple sclerosis nurse specialist narrative, focusing on supporting people to manage cognitive changes 

    Jarrett, Louise (Mark Allen Group, 2022-01-01)
    Background: Cognitive changes are common in people with multiple sclerosis (MS). Interventions from health professionals can focus on assessment, measurement and advice on management strategies. Such interventions are often ...
  • The impact of smoking cessation on multiple sclerosis disease progression 

    Rodgers, J.; Friede, T.; Vonberg, F. W.; Constantinescu, C. S.; Coles, A.; Chataway, J.; Duddy, M.; Emsley, H.; Ford, H.; Fisniku, L.; Galea, I.; Harrower, T.; Hobart, J.; Huseyin, H.; Kipps, C. M.; Marta, M.; McDonnell, G. V.; McLean, B.; Pearson, O. R.; Rog, D.; Schmierer, K.; Sharrack, B.; Straukiene, A.; Wilson, H. C.; Ford, D. V.; Middleton, R. M.; Nicholas, R. (Oxford University Press, 2021-10-08)
    The negative impact of smoking in MS is well established, however, there is much less evidence as to whether smoking cessation is beneficial to progression in MS. Adults with MS registered on the United Kingdom MS Register ...
  • Sudomotor dysfunction in patients with gluten neuropathy 

    Zis, P.; Shafique, F.; Sarrigiannis, P. G.; Artemiadis, A.; Rao, D. G.; Sanders, D. S.; Hadjivassiliou, M. (Springer, 2021-11-01)
    BACKGROUND AND AIM: Gluten neuropathy (GN) is a common neurological manifestation of gluten sensitivity (GS), characterized by serological evidence of GS, while other risk factors for developing neuropathy are absent. The ...
  • Brain functional and effective connectivity based on electroencephalography recordings: A review 

    Cao, J.; Zhao, Y.; Shan, X.; Wei, H. L.; Guo, Y.; Chen, L.; Erkoyuncu, J. A.; Sarrigiannis, P. G. (Wiley, 2021-10-20)
    Functional connectivity and effective connectivity of the human brain, representing statistical dependence and directed information flow between cortical regions, significantly contribute to the study of the intrinsic brain ...
  • What is the lived experience of anxiety for people with Parkinson's? A phenomenological study 

    Lovegrove, Christopher J.; Bannigan, Katrina (PLoS One, 2021-04-08)
    PURPOSE: Anxiety is a common non-motor symptom of Parkinson's and there is no specific pharmacological intervention for people with Parkinson's who experience anxiety. Yet there is little specific research documenting how ...
  • Setting up a clozapine service for Parkinson's psychosis 

    Taylor, Christine; Marsh-Davies, Alison; Skelly, Rob; Archibald, Neil; Jackson, Sarah (Cambridge University Press, 2021-03-19)
    Parkinson's psychosis can be very challenging to manage, with limited treatment options available. There is a good evidence base to support the use of clozapine, but practical obstacles often prevent its use. There is a ...
  • Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale 

    Young, C. A.; McDermott, C. J.; Williams, T. L.; Ealing, J.; Majeed, T.; Al-Chalabi, A.; Dick, D. J.; Talbot, K.; Harrower, T.; Pinto, A.; Hanemann, C. O.; Burke, G.; Roberts, R.; Mills, R. J.; Tennant, A. (Elsevier, 2021-02-15)
    OBJECTIVE: The progressively disabling and terminal nature of ALS/MND imposes major coping demands on patients. We wished to improve the psychometric properties of our previously published MND-Coping Scale, so that parametric ...
  • Characterising Alzheimer's Disease with EEG-based Energy Landscape Analysis 

    Klepl, Dominik; He, Fei; Wu, Min; Blackburn, Daniel J.; De Marco, Matteo; Sarrigiannis, Ptolemaios (0, 2021-02-01)
    Alzheimer's disease (AD) is one of the most common neurodegenerative diseases, with around 50 million patients worldwide. Accessible and non-invasive methods of diagnosing and characterising AD are therefore urgently ...
  • Fatal insomnia: the elusive prion disease 

    Patel, D.; Ibrahim, H.; Rankin, J.; Hilton, D.; Barria, M. A.; Ritchie, D. L.; Smith, C.; Zeman, A. (BMJ, 2021-06-22)
    A previously well 54-?year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. The patient had progressive deterioration in short-term memory, ocular convergence ...
  • A meta-analysis of epigenome-wide association studies in Alzheimer's disease highlights novel differentially methylated loci across cortex 

    Smith, R. G.; Pishva, E.; Shireby, G.; Smith, A. R.; Roubroeks, J. A. Y.; Hannon, E.; Wheildon, G.; Mastroeni, D.; Gasparoni, G.; Riemenschneider, M.; Giese, A.; Sharp, A. J.; Schalkwyk, L.; Haroutunian, V.; Viechtbauer, W.; van den Hove, D. L. A.; Weedon, M.; Brokaw, D.; Francis, P. T.; Thomas, A. J.; Love, S.; Morgan, K.; Walter, J.; Coleman, P. D.; Bennett, D. A.; De Jager, P. L.; Mill, J.; Lunnon, K. (Nature, 2021-06-10)
    Epigenome-wide association studies of Alzheimer's disease have highlighted neuropathology-associated DNA methylation differences, although existing studies have been limited in sample size and utilized different brain ...
  • Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. 

    Cairns, Lauren M.; Rankin, Julia; Hamad, Asma; Cooper, Nicola; Merrifield, Katrina; Jain, Vani; Rosser, Elisabeth; Rogers, Megan; Buston, Sarah; Stopford, Cheryl; Jones, Gabriela; Lefroy, Henrietta; Németh, Andrea H.; Holden, Simon; Douglas, Andrew G. L. (BMJ, 2021-05-07)
    INTRODUCTION: Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable ...
  • Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. 

    Schänzer, Anne; Achleitner, Melanie T.; Trümbach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, René G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schöneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sánchez, Jacobo Pérez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cédric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas; Weber, Axel (Wiley, 2021-05-17)
    OBJECTIVE: Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes ...
  • Improving medicine concordance in a patient with Parkinson's and dementia: a case study. 

    Soper, Claire (RCN, 2021-04-21)
    Parkinson's is a progressive neurological condition characterised by a range of debilitating motor and non-motor symptoms and often leading to the development of Parkinson's dementia. People with Parkinson's need to take ...
  • Sudden Unexpected Death in Epilepsy (SUDEP) and seizure safety: Modifiable and non-modifiable risk factors differences between primary and secondary care 

    Henley, W. E.; Shankar, R. (Elsevier Science, 2021-02)
    Introduction: The SUDEP and Seizure Safety Checklist ("Checklist") is a risk factors Checklist based around a person with epilepsy (PWE) demographics, seizure, physical, psychological, and lifestyle issues. The Checklist ...
  • Patterns of Mitochondrial TSPO Binding in Cerebral Small Vessel Disease: An in vivo PET Study With Neuropathological Comparison 

    Ballard, Clive (Frontiers Media, 2020-10-16)
    Small vessel disease (SVD) is associated with cognitive impairment in older age and be implicated in vascular dementia. Post-mortem studies show proliferation of activated microglia in the affected white matter. However, ...
  • "I'm in a very good frame of mind": a qualitative exploration of the experience of standing frame use in people with progressive multiple sclerosis 

    Jarrett, Louise (HighWire, 2020-10-28)
    Objectives: The study aim was to explore the experiences of people with progressive multiple sclerosis (MS) and their standing assistants during their participation in Standing Up in Multiple Sclerosis, a randomised ...
  • Psychosis in Alzheimer's Disease 

    Ballard, Clive; Creese, Byron (Springer, 2020-10-13)
    Purpose of review: To review the incidence, treatment and genetics of psychosis in people with mild cognitive impairment (MCI) and Alzheimer's disease (AD). Recent findings: Psychosis in Alzheimer's disease (AD) has an ...
  • Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF 

    Harrower, Timothy (Taylor & Francis, 2020-06-27)
    Objectives: The World Health Organization Quality of Life-BREF Scale (WHOQOL-BREF) is a generic QOL measure with four domains covering Physical, Psychological, Social and Environment. Providing the opportunity to contrast ...
  • Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches 

    Crosby, Andrew H. (Elsevier Science, 2019-12)
    Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, ...

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