A5027952944- Prion Diseases and Protein Misfolding
- Dementia and Cognitive Impairment Research
- Cerebrospinal fluid and hydrocephalus
- Traumatic Brain Injury and Neurovascular Disturbances
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Cancer-related cognitive impairment studies
- Functional Brain Connectivity Studies
- Helicobacter pylori-related gastroenterology studies
- Neurosurgical Procedures and Complications
- Trace Elements in Health
- Infectious Encephalopathies and Encephalitis
- Peripheral Neuropathies and Disorders
- Amyotrophic Lateral Sclerosis Research
- Body Composition Measurement Techniques
- Long-Term Effects of COVID-19
- COVID-19 Clinical Research Studies
- Gastric Cancer Management and Outcomes
- Traumatic Brain Injury Research
- Acute Ischemic Stroke Management
- Spinal Dysraphism and Malformations
- Nutrition and Health in Aging
- Fetal and Pediatric Neurological Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Child Abuse and Related Trauma
Imperial College Healthcare NHS Trust
2016-2024
Imperial College London
2021-2024
Chelsea and Westminster Hospital NHS Foundation Trust
2018-2022
Charing Cross Hospital
2015-2021
University College London
2010-2020
The University of Melbourne
2020
Austin Health
2020
Peninsula Health
2020
Eastern Health
2016-2020
Monash Health
2016-2020
Abstract Preliminary clinical data indicate that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is associated with neurological and neuropsychiatric illness. Responding to this, a weekly virtual disease 19 (COVID-19) neurology multi-disciplinary meeting was established at the National Hospital, Queen Square, in early March 2020 order discuss begin understand presentations patients suspected COVID-19-related disorders. Detailed paraclinical were collected from cases...
Human prion diseases, although variable in clinicopathological phenotype, generally present as neurologic or neuropsychiatric conditions associated with rapid multifocal central nervous system degeneration that is usually dominated by dementia and cerebellar ataxia. Approximately 15% of cases recognized disease are inherited coding mutations the gene encoding protein (PRNP). The availability genetic diagnosis has led to a progressive broadening spectrum disease.
Prion diseases represent the archetype of brain caused by protein misfolding, with most common subtype being sporadic Creutzfeldt-Jakob disease (sCJD), a rapidly progressive dementia. Diffusion-weighted imaging (DWI) has emerged as sensitive magnetic resonance (MRI) sequence for diagnosis sCJD, but few studies have assessed evolution MRI signal progresses.To assess natural history abnormalities on DWI in sCJD to improve our understanding pathogenesis and investigate potential biomarker...
Abstract Background Establishing a confident clinical diagnosis before an advanced stage of illness can be difficult in Creutzfeldt-Jakob disease (CJD) but unlike common causes dementia, prion diseases often diagnosed by identifying characteristic MRI signal changes. However, it is not known how CJD-associated changes are identified at the initial imaging report, whether most sensitive sequences used, and what impact MRI-diagnosis has on prompt referral to trial-like studies. Methods We...
Alzheimer's disease, the most common cause of dementia, causes a progressive and irreversible deterioration cognition that can sometimes be difficult to diagnose, leading suboptimal patient care.
Background and objective Amyloid-positron emission tomography (PET) imaging (API) detects amyloid-beta pathology early in the course of Alzheimer’s disease (AD) with high sensitivity specificity. (18)F-florbetapir (Amyvid) is an amyloid-binding PET ligand a half-life suitable for clinical use outside research setting. How API affects patient investigation management ‘real-world’ arena unknown. To address this, we retrospectively documented effect patients memory clinic. Methods We reviewed...
<h3>Importance</h3> A major challenge for drug development in neurodegenerative diseases is that adequately powered efficacy studies with meaningful end points typically require several hundred participants and long durations. Prion represent the archetype of brain caused by protein misfolding, most common subtype being sporadic Creutzfeldt-Jakob disease (sCJD), a rapidly progressive dementia. There no well-established trial method prion disease. <h3>Objective</h3> To establish more powerful...
The inherited prion diseases (IPD) are a group of dominantly neurodegenerative disorders caused by mutation the protein gene (<i>PRNP</i>). Although clinically heterogeneous, IPDs generally associated with progressive dementia, ataxia and characteristic pathology. Here we describe quite distinct consistent phenotype in nine patients from family novel Y163X <i>PRNP</i> truncation mutation. major clinical features consist chronic diarrhoea, profound autonomic failure predominantly axonal...
This study investigates the usefulness of quantitative SUVR thresholds on sub types typical (type A) and atypical (non-type positive (Aβ+) negative (Aβ-) 18F-florbetapir scans aims to optimise thresholds.Clinical (n = 100) were categorised by type visual reads performed independently three trained readers. Inter-reader agreement reader-to-reference measured. Optimal derived ROC analysis compared with from a healthy control group values published literature.Sub division PET improves accuracy...
Cognitive dysfunction affects 40-60% of individuals with multiple sclerosis (MS). The neuropsychological profile commonly consists a subcortical pattern deficits, although proportion patients have severe progressive cortical dementia. However, MS can be affected by other neurodegenerative diseases, such as Alzheimer's disease (AD). Little is known about the co-existence these two conditions but distinguishing dementia due to alone from coexisting challenging. Amyloid PET imaging has allowed...
Depression has been suggested to be a cause of reversible cognitive impairment but also risk factor for neurodegenerative disease. Studies suggest that depression prevalence may high in early onset dementia, particularly Alzheimer's disease, this not systematically assessed biomarker-validated clinical dementia cohort date.To examine the prevalence, features, and association with amyloid pathology lifetime depressive symptoms memory clinic meeting appropriate use criteria PET imaging.We...
Episodic memory impairment and brain amyloid-beta are two of the main hallmarks Alzheimer's Disease. In clinical setting, these often evaluated through neuropsychological testing amyloid PET imaging, respectively. The use in practice is only indicated patients with substantial diagnostic uncertainty due to atypical presentation, multiple comorbidities and/or early age onset. relationship between cognition has been previously investigated, but no study examined how features relate presence...
The relationship of whole-body electrical resistance (WBR) to fat-free mass, derived from densitometry (FFMDb ), hydrometry (FFMTBW and densitometric mass corrected for hydration (FFMD+W ) was investigated in three independent samples (AZ, IL, CA). Subjects included 75 males females ranging age 18 32 years. Whole-body resistive index (WBRI) computed as height2 /resistance highly correlated FFMDb , FFMTBW FFMD+W (r = 0.97, 0.95, respectively). Multiple regression analysis employed develop...
Large clinical trials including patients with uncommon diseases involve assessors in different geographical locations, resulting considerable inter-rater variability assessment scores. As video recordings of examinations, which can be individually rated, may eliminate such variability, we measured the agreement between a single rater and multiple examining physicians context PRION-1, trial antimalarial drug quinacrine human prion diseases.We analysed 43-component neurocognitive battery, on...
A 72-year-old man presented with sudden onset of right-sided facial muscle weakness and slurred speech a 3-day history fevers, myalgia sore throat. There was no hyperacusis, change in taste or lacrimation. His included untreated hepatitis C diagnosed 10 years before, but quiescent at his annual liver review 8 weeks before presentation. He smoked cannabis intermittently there recent alcohol other drug abuse. promiscuity female partners. On examination, he alert orientated. blood pressure...
Abstract Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms. We have recently carried out a study of behavioural and psychiatric symptoms in large prospective cohort patients with prion disease the United Kingdom, allowing us to operationalise specific behavioural/psychiatric phenotypes as traits human disease. Here, we report exploratory genome-wide association analysis on 170 these 5200 UK...
Abstract Background Idiopathic normal pressure hydrocephalus (iNPH) is characterised by gait disturbance, urinary incontinence and cognitive impairment. Symptoms are potentially reversible via cerebrospinal fluid (CSF) diversion; thus early accurate diagnosis crucial. imaging features of iNPH often overlap with Alzheimer’s disease (AD) other neurodegenerative conditions, which represent a major diagnostic challenge. We aimed to demonstrate the utility computerised neuropsychology testing aid...