A5082131403- Amyotrophic Lateral Sclerosis Research
- Epilepsy research and treatment
- Neurogenetic and Muscular Disorders Research
- Pharmacological Effects and Toxicity Studies
- Neurological diseases and metabolism
- Histone Deacetylase Inhibitors Research
- EEG and Brain-Computer Interfaces
- Cancer-related gene regulation
- Neonatal and fetal brain pathology
- Psychosomatic Disorders and Their Treatments
- Mental Health and Psychiatry
- Health Systems, Economic Evaluations, Quality of Life
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Healthcare Systems and Technology
- Pregnancy and Medication Impact
- Neuroscience and Neuropharmacology Research
- Artificial Intelligence in Healthcare and Education
- Evaluation and Performance Assessment
- Prion Diseases and Protein Misfolding
- Neurology and Historical Studies
- Angiogenesis and VEGF in Cancer
- Operations Management Techniques
- Nerve injury and regeneration
- Biochemical Acid Research Studies
Sheffield Teaching Hospitals NHS Foundation Trust
2017-2024
Auckland City Hospital
2016-2024
Auckland District Health Board
2018-2024
University of Sheffield
2005-2022
Royal Hallamshire Hospital
2017-2022
National Health Service
2018
Intronic expansion of the GGGGCC hexanucleotide repeat within C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial sporadic cases. Initial reports indicate that this variant dementia/amyotrophic sclerosis spectrum is associated with transactive response DNA binding protein (TDP-43) proteinopathy. The phenotype not yet well characterized. We report clinical pathological phenotypes pathogenic mutations a cohort 563 cases from...
Dissociative seizures are paroxysmal events resembling epilepsy or syncope with characteristic features that allow them to be distinguished from other medical conditions. We aimed compare the effectiveness of cognitive behavioural therapy (CBT) plus standardised care alone for reduction dissociative seizure frequency.In this pragmatic, parallel-arm, multicentre randomised controlled trial, we initially recruited participants at 27 neurology services in England, Scotland, and Wales. Adults...
Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients. A mutation CHMP2B was recently identified Danish pedigree autosomal dominant FTD. Subsequently, two unrelated patients familial ALS, one whom also showed features FTD, were shown to carry missense mutations CHMP2B. The initial aim this study determine whether contribute more broadly ALS pathogenesis.Sequencing 433 cases from the North...
A consistent clinical feature of amyotrophic lateral sclerosis (ALS) is the sparing eye movements and function external sphincters, with corresponding preservation motor neurons in brainstem oculomotor nuclei, Onuf's nucleus sacral spinal cord. Studying differences properties that are vulnerable resistant to disease process ALS may provide insights into mechanisms neuronal degeneration, identify targets for therapeutic manipulation. We used microarray analysis determine gene expression...
Vascular endothelial growth factor (VEGF) prolongs survival in the mutant SOD1 transgenic mouse model of amyotrophic lateral sclerosis (ALS), whereas dysregulation VEGF through deletion its hypoxia-regulatory element causes motor neuron degeneration mice. We investigated expression and major agonist receptors normal central nervous system patients with ALS. Immunohistochemistry demonstrated similar patterns receptor 2 (VEGFR2) spinal cord finely punctate staining neuropil strong anterior...
Our objective was to establish the pattern of spread in lower limb-onset ALS (contra- versus ipsi-lateral) and its contribution prognosis within a multivariate model. Pattern established 109 sporadic patients with limb-onset, prospectively recorded Oxford Sheffield tertiary clinics from 2001 2008. Survival analysis by univariate Kaplan-Meier log-rank Cox proportional hazards. Variables studied were time next limb progression, site age at symptom onset, gender, diagnostic latency use...
Abstract Objective To determine the incidence, etiology, and outcome of status epilepticus ( SE ) in Auckland, New Zealand, using latest International League Against Epilepsy ILAE semiological classification. Methods We prospectively identified patients presenting to public or major private hospitals Auckland (population = 1.61 million) between April 6, 2015 5, 2016 with a seizure lasting 10 minutes longer, retrospective review confirm completeness data capture. Information was recorded...
Abstract Background Vascular endothelial growth factor (VEGF) is an cell mitogen that stimulates vasculogenesis. It has also been shown to act as a neurotrophic in vitro and vivo . Deletion of the hypoxia response element promoter region gene encoding VEGF mice causes reduction neural expression, results adult-onset motor neurone degeneration resembles amyotrophic lateral sclerosis (ALS). Investigating molecular pathways neurodegeneration δ/δ mouse model ALS may improve understanding...
This study was undertaken to characterize clinical expression and intracerebral electroencephalographic (EEG) correlates of emotional during prefrontal epileptic seizures.We performed a descriptive analysis seizure semiology in patients explored with stereo-EEG (SEEG) for pharmacoresistant epilepsy, using semiquantitative score seizure-related behavior. Two independent observers scored occurrence intensity objective features (face/body movements/vocalization/overall appearance), testing...
Sporadic amyotrophic lateral sclerosis (ALS), a devastating neurodegenerative disease, most likely results from complex genetic and environmental interactions. Although number of association studies have been performed in an effort to find components sporadic ALS, them resulted inconsistent findings due small genes investigated relatively sample sizes, while the replication was rarely attempted. Defects retrograde axonal transport, vesicle trafficking xenobiotic metabolism implicated...
Abstract Objective Determination of the real‐world performance a health care system in treatment status epilepticus (SE). Methods Prospective, multicenter population‐based study SE Auckland, New Zealand (NZ) over 1 year, with data recorded EpiNet database. Focus on patterns and determinants duration 30‐day mortality. The incidence, etiology, ethnic discrepancies, seizure characteristics this cohort have been published previously. Results A total 365 patients were included cohort; 326 (89.3%)...
Background Dissociative (non-epileptic) seizures are potentially treatable by psychotherapeutic interventions; however, the evidence for this is limited. Objectives To evaluate clinical effectiveness and cost-effectiveness of dissociative seizure-specific cognitive–behavioural therapy adults with seizures. Design This was a pragmatic, multicentre, parallel-arm, mixed-methods randomised controlled trial. Setting took place in 27 UK-based neurology/epilepsy services, 17 liaison...
Abstract Background Vascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model amyotrophic lateral sclerosis (ALS), and expression VEGFR2 reduced neurones spinal cord patients with ALS. Methods We have screened the promoter region 4 exonic regions functional significance gene UK population ALS, for mutations polymorphisms that may affect or function this...
EpiNet was established to encourage epilepsy research. is used for multicenter cohort studies and investigator-led trials. Physicians must be accredited recruit patients into Here, we describe the accreditation process EpiNet-First trials.Physicians with an interest in were invited assess 30 case scenarios determine following: whether have epilepsy; nature of seizures (generalized, focal); etiology. Information presented two steps 23 cases. The steering committee determined that 21 cases had...
Summary The EpiNet project has been commenced to facilitate investigator‐led collaborative research in epilepsy. A new Web‐based data collection tool developed within record comprehensive regarding status epilepticus and used for a study of Auckland, New Zealand. All patients aged >4 weeks who presented any the five public hospitals major private hospital Auckland city (population = 1.61 million) with an episode between April 6, 2015 5, 2016 were identified using multiple overlapping...
A consistent clinical feature of amyotrophic lateral sclerosis (ALS) is the sparing eye movements and function external sphincters, with corresponding preservation motor neurones (MNs) in brainstem oculomotor nuclei, Onuf9s nucleus sacral spinal cord. Studying differences properties that are vulnerable resistant to disease process ALS may provide insights into mechanisms neuronal degeneration, identify targets for therapeutic manipulation. We used microarray analysis determine gene...