National Institute for Health Research (NIHR) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Does weight management research for adults with severe obesity represent them? Analysis of systematic review data
Discussion Although we were limited by poor trial reporting, our results indicate inadequate representation of people most at risk of obesity. Guidance for considering underserved groups may improve the appropriateness of research and inform greater engagement with health and social care services. Funding National Institute for Health Research Health Technology Assessment Programme (project number: 15/09/04). PROSPERO registration number CRD42016040190. (Source: BMJ Open)
Source: BMJ Open - May 31, 2022 Category: General Medicine Authors: Robertson, C., Aceves-Martins, M., Cruickshank, M., Imamura, M., Avenell, A. Tags: Open access, Health services research Source Type: research

144 Investigating the molecular mechanisms of mutant C9orf72 human iPSC- derived astrocyte-mediated motor neuron deficits
Amyotrophic Lateral Sclerosis (ALS) is a progressive, incurable and invariably fatal neurodegenerative condition characterised by loss of motor neurons. Over the last two decades, there are multiple lines of evidence from pathology, genetics and experimental systems that implicate a central role for non- neuronal cells, astrocytes in particular, with ALS pathogenesis. This is not surprising given the intimate structural and functional association of astrocytes with, inter alia, the synapse and vasculature. Yet, the nature of this astrocyte-neuronal crosstalk remains understudied. Harnessing the power of genetic dis- coveri...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Stavrou, M., Selvaraj, B., Bolado, A., James, L., Neil, C., Margaret, F., Hardingham, G., Chandran, S. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

137 Outcome measures in CMT: case examples from the muscle MRI in CMT study
We present three cases illustrating key points from the study and demonstrate an increase in FF at 12 months in one patient each with CMT1X and CMT2A, and over 10 years in a patient with CMT1B. carolynnedoherty@doctors.org.uk|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Zuccarino, R., Howard, P., McDowell, A., Wastling, S., Laura, M., Thedens, D., Thornton, J., Shy, M., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

135 CMT with renal impairment: consider a dip
We describe two patients from our neuropathy cohort who have CMT with slowed conduc- tion velocities (CV) and renal involvement and discuss the importance of urine dipstick testing in those without a genetic diagnosis. Cases: A 19-year-old had deterioration in his running aged 3, required foot surgery aged 10 and scoliosis surgery aged 15. Distal atrophy and weakness with large fibre sensory impairment was evident. At age 12, neurophysiology demonstrated absent SAPs, reduced CMAPs and MCVs of 10–18m/s. Urine dipstick showed proteinuria. Whole genome sequencing demonstrated a previously described p.Cys104Tyr INF-2 mut...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Blake, J., Skorupinska, M., Shah, S., Laura, M., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

136 Coincidential hydrocephalus in twins with CMT1X
Discussion Despite the finding of hydrocephalus in both affected twins, further family evaluation confirmed the hydrocephalous not to segregate with the GJB1 mutation. This highlights the importance of detailed phenotype segregation studies before diagnosing an atypical phenotype with genetic diseases. Alterna- tive genetic causes for the hydrocephalus are being sought. 1) Vivekanandam V, Hoskote C, Rossor AM, Reilly MM. CNS phenotype in X linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2018 Dec 5;90(9). carolynnedoherty@doctors.org.uk|NIHR Bursary 93 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Pipis, M., Hosktote, C., Rossor, A., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

127 ACTA1 associated myopathy with neurogenic EMG changes
We describe a proband and her son who have proximal limb and facial weakness and marked hand involvement. A congenital myopathy panel demonstrated two RYR1 variants and the p.Ile289Phe novel variant in ACTA1. Cases: The proband had initially been diagnosed with SMA following premature birth, late milestones, scoliosis and proximal and distal weakness which was relatively static until age 40. EMG as a child was neurogenic. Her son had poor feeding after birth, delayed motor milestones, intellectual delay, and by his teens, severe facial weakness and distal upper limb wasting particularly the finger flexors and extensors, wi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Blake, J., Manzur, A., Wakeling, E., Shah, S., Muntoni, F., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

095 Remyelination in people with MS due to an RXR agonist is age-dependent
Remyelination is a promising strategy to prevent axonal degeneration and progressive disability in people with multiple sclerosis (MS). In animal models, remyelination becomes inefficient with advancing age and much preclinical research is focused on interventions to reverse cellular hallmarks of ageing in remyelinat- ing lesions. However, there is currently limited evidence that human remyelination also declines with age. We investigated the effect of patient age on treatment response among participants of the CCMR One trial (ISRCTN14265371): a double-blind, placebo-controlled phase 2a study (n=52) that demonstrated the a...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: McMurran, C., Mukherjee, T., William Brown, J., Michell, A., Coles, A., Cunniffe, N. Tags: Live Poster, 29 April SIG1: MS [amp ] Neuroinflammation Source Type: research

085 Ten year follow-up surveillance of paediatric acquired demyelinating syndromes (ADS) in the UK
Conclusions The majority of ADS presentations in children are monophasic even at 10-year follow. Given the implications for treatment strategies, MS and CNS autoantibody mimics warrant extensive investigations. o.abdel-mannan@ucl.ac.uk|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Abdel-Mannan, O., Absoud, M., Benetou, C., Hickson, H., Chong, W., Hemingway, C., Lim, M., Wright, S., Hacohen, Y., et al Tags: Live Poster, 29 April SIG1: MS [amp ] Neuroinflammation Source Type: research

082 Experiences of remote consulting for neurologists and patients during the COVID-19 pandemic: a national survey
Remote consulting is an emerging model in managing chronic neurological conditions and has been widely implemented during the COVID-19 pandemic. The main objective of this national survey was to investigate the initial experiences of remote consulting for neurologists and patients with chronic neuro- logical conditions during the first COVID-19 phase. In collaboration with the Scottish Association of Neurological Sciences and the Neurological Alliance of Scotland, we conducted a survey of 62 neurologists and 201 patients between October-November 2020. The overall consensus amongst neurologists was that remote consulting is...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Stavrou, M., Eva, L., Joanna, L., Davenport, R. Tags: Live Poster, 6 May SIG6: Sustainability Source Type: research

071 Motor network remodelling in ALS and PLS
Discussion Regional brain motor network remodelling in ALS may signify degeneration of inhibitory local circuit functional partitioning, or reflect adaptation and mobilisation of reserves to support motor execution. Replication and validation through standardised imaging protocols and task design offers the potential to refine targets for therapeutic neuromodulation. eedmond@gmail.com|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Edmond, E., Proudfoot, M., Menke, R., Thompson, A., Talbot, K., Stagg, C., Turner, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

060 Calcitonin gene-related peptide monoclonal antibody treats headache in patients with active idiopathic intracranial hypertension
Conclusions Those with prior IIH who have their headaches successfully treated with CGRP therapy, should remain under close ocular surveillance (particularly when weight gain is evident) as papilloedema can re-occur in the absence of headache. These cases may suggest that CGRP could be a mechanistic driver for headache in patients with active IIH. a.yiangou@bham.ac.uk|NIHR Bursary 55 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Yiangou, A., Mitchell, J., Vijay, V., Grech, O., Bilton, E., Lavery, G., Fisher, C., Edwards, J., Mollan, S., Sinclair, A. Tags: Live Poster, 29 April SIG3: Headache Source Type: research

030 Emerging parkinsonism in the PREDICT-PD cohort after 5-year follow-up
Conclusions This study identifies early motor features and their evolution during PD pre-diagnostic phase. Remotely administered tools may be capable of detecting subtle motor dysfunction at early stages of PD. c.simonet@qmul.ac.uk|NIHR Bursary 40 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Simonet, C., Bestwick, J., Schrag, A., Lees, A., Noyce, A. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research

026 Impulse control disorders in idiopathic REM sleep behaviour disorder and drug-naive Parkinsons disease
Conclusions This is the first study to demonstrate that patients with iRBD experience ICBs more frequently than patients with drug-naive PD. ICBs should be recognised as common and distinct neuropsychiatric features in iRBD. RBD may additionally represent an important determinant of ICBs in PD. a.otaiku@nhs.net|NIHR Bursary 38 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Otaiku, A. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research

023 Evaluating a home-based care pathway for people with Parkinsons disease
Conclusions We have demonstrated acceptability, feasibility and effectiveness of our novel Parkinson’s care pathway. e.king6@nhs.net|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: King, E., Inches, J., Edwards, E., Rideout, J., Whipps, S., Holley, M., Gorst, T., Carroll, C. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research

222 DECISIve - DiagnosE using the Central veIn SIgn. A study comparing T2* MRI and lumbar puncture
Can a brain T2* MRI scan replace lumbar puncture in the diagnostic pathway of MS? We will present the preliminary data from DECISIve, a National Institute for Health Research – Research for Patient Benefit funded multicentre study. Clinical Trials reference: NCT04024969 Due to the revised 2017 McDonald diagnostic criteria, many more people are undergoing lumbar punctures, resulting in discomfort and additional costs to the NHS. Brain lesions with a central vein, detected with T2* MRI are thought to be characteristic of MS. Using a single group superiority diagnostic accuracy study, our primary research question is: I...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Allen, C. M., Morgan, P., Craner, M., Tallantyre, E., Schmierer, K., Dineen, R., Fitzsimmons, D., DasNair, R., Partlett, C., Evangelou, N. Tags: Poster Presentations Source Type: research