391 results match your criteria: "Manchester Centre for Clinical Neurosciences[Affiliation]"

Diffuse neurofibroma of the head and neck are rare tumours which have unique clinical and radiological findings. Presurgical diagnosis is important as these lesions are usually highly vascular and pre-operative embolisation can reduce the risk of intra-operative haemorrhage. In this article we describe four cases; two which underwent pre-operative embolisation, which should aid the reader in successfully diagnosing this entity before biopsy/surgery.

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Article Synopsis
  • Late-onset Pompe Disease (LOPD) is a rare genetic disorder caused by a deficiency in an enzyme, leading to muscle damage and glycogen accumulation in cells.
  • This study used advanced techniques like single nuclei RNA sequencing to explore gene expression changes in muscle biopsies from LOPD patients compared to healthy controls, revealing significant metabolic shifts and inflammatory responses in affected fibers.
  • Findings suggest potential benefits of enzyme replacement therapy in restoring metabolic function, especially in healthy muscle fibers, emphasizing the importance of using modern methods to understand muscle disease at a cellular level.
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Inhibition of neutrophil rolling and migration by caADAMTS13 in vitro and in mouse models of thrombosis and inflammation.

Biomed Pharmacother

September 2024

Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust, University of Manchester, Manchester, UK.

Recent investigation of a constitutively active ADAMTS13 variant (caADAMTS13) in murine models of acute ischaemic stroke (AIS) have revealed a potential anti-inflammatory mechanism of action contributing to its protective effect. However, it remains unclear whether these observations are a direct result of VWF proteolysis by caADAMTS13. We have implemented state of the art in vitro assays of neutrophil rolling and transmigration to quantify the impact of caADAMTS13 on these processes.

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Purpose: People who survive a subarachnoid haemorrhage (SAH) often face enduring health challenges including physical disability, fatigue, cognitive impairments, psychological difficulties, and reduced quality of life. While group interventions have shown positive results in addressing similar issues in chronic conditions, the evidence involving SAH specifically is still sparse. This service evaluation aimed to explore SAH survivors' experiences of attending a multidisciplinary group-based support programme tailored to address unmet needs identified in previous literature, with the ultimate aim to refine future iterations of the programme and improve quality of care post-SAH.

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Clinical recognition of frontotemporal dementia with right anterior temporal predominance: A multicenter retrospective cohort study.

Alzheimers Dement

August 2024

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, De Boelelaan, Amsterdam, The Netherlands.

Article Synopsis
  • A multicenter study involving 18 centers in 12 countries examined 360 patients with frontotemporal dementia (FTD) characterized by right anterior temporal lobe (RATL) atrophy to create a unified clinical description of the syndrome.
  • Key symptoms identified in patients included mental rigidity (78%), disinhibition (74%), and naming difficulties (70%), with cognitive tests revealing specific deficits in social interactions and emotional recognition, though lacking in measuring mental rigidity.
  • The findings represent the largest cohort of its kind, highlighting under-acknowledged symptoms of RATL and providing valuable insights for clinicians to improve early diagnosis and management of FTD patients.
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Background: Nonauditory symptoms can be a prominent feature in patients with sporadic vestibular schwannoma (VS), but the cause of these symptoms is unknown. Inflammation is hypothesized to play a key role in the growth and symptomatic presentation of sporadic VS, and in this study, we investigated through translocator protein (TSPO) positron emission tomography (PET) whether inflammation occurred within the "normal appearing" brain of such patients and its association with tumor growth.

Methods: Dynamic PET datasets from 15 patients with sporadic VS (8 static and 7 growing) who had been previously imaged using the TSPO tracer [C]()-PK11195 were included.

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Preconception counselling in women with epilepsy.

Pract Neurol

November 2024

Department of Neurology, Belfast Health and Social Care Trust, Belfast, UK.

Pregnancy and the postpartum period are potentially high-risk periods for women with epilepsy and their babies. All women with epilepsy should have the opportunity for preconception counselling with the aim of reducing risk, optimising outcomes for the potentially developing fetus and enabling informed decision-making. This article provides an evidence-based framework for preconception counselling discussion, including the review of diagnosis and of current antiseizure medication, the risk to the fetus in relation to antiseizure medication and maternal seizures, maternal morbidity, SUDEP risk, folic acid supplements, contraception, breastfeeding and safety advice.

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Valproate is the most effective medication for generalised epilepsies, and several specific epilepsy syndromes. For some people, it will be the only medication to establish seizure remission, and withdrawing it carries risks of seizure recurrence and Sudden Unexpected Death in Epilepsy (SUDEP). It is also of proven efficacy for bipolar disorder and migraine prevention.

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Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.

Am J Hum Genet

July 2024

Division of Psychological Medicine and Clinical Neurosciences, UK Dementia Research Institute, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

Article Synopsis
  • * A study analyzed 4,685 sporadic FTD cases and found significant genetic variants at the MAPT and APOE loci that increase the risk for the disease, indicating potential genetic overlap with other neurodegenerative diseases.
  • * The genetic risk factors appear to vary by population, with MAPT and APOE associations predominantly found in Central/Nordic and Mediterranean Europeans, suggesting a need for further research into these population-specific features for better understanding of sporadic FTD.
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Objective: To estimate the cost-effectiveness of craniotomy, compared with decompressive craniectomy (DC) in UK patients undergoing evacuation of acute subdural haematoma (ASDH).

Design: Economic evaluation undertaken using health resource use and outcome data from the 12-month multicentre, pragmatic, parallel-group, randomised, Randomised Evaluation of Surgery with Craniectomy for Patients Undergoing Evacuation-ASDH trial.

Setting: UK secondary care.

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The failure of relapses and white matter lesions to properly explain long-term disability and progression in multiple sclerosis is compounded by its artificial separation into relapsing remitting, secondary progressive, and primary progressive pigeonholes. The well-known epidemiological disconnection between relapses and long-term disability progression has been rediscovered as "progression independent of relapse activity", i.e.

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  • Two new enzyme replacement therapies for late-onset Pompe disease received approval from the European Medicines Agency between 2022 and 2023, prompting an update to treatment guidelines by the European Pompe Consortium (EPOC).
  • The EPOC, consisting of 25 experts from eight countries, developed a consensus on when to start, switch, or stop ERT based on in-person meetings and discussions.
  • Recommendations emphasize starting ERT in symptomatic patients, criteria for switching treatments based on muscle function stabilization, and the option of stopping ERT if there are severe reactions or lack of improvement, with regular assessments every six months to monitor progress.
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Background: A growing body of evidence suggests inequitable access to disease-modifying therapies (DMTs) for multiple sclerosis (MS) in publicly funded healthcare systems. This retrospective study examined the impact of ethnicity and deprivation on the access to DMTs.

Methods: All adults diagnosed with relapsing-remitting MS between 2010 and 2020 were included.

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  • Corticobasal syndrome is usually linked to common conditions like corticobasal degeneration and Alzheimer's, but this case highlights a rare cause.
  • A 78-year-old woman initially diagnosed with idiopathic Parkinson's disease developed symptoms that led to a revised diagnosis of probable corticobasal syndrome after an MRI showed specific brain atrophy.
  • After her death, post-mortem findings confirmed Pick's disease, demonstrating that it can mimic corticobasal syndrome symptoms, which is important for differential diagnosis.
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  • The study examines how patient ethnicity, socio-economic status, and pre-existing health conditions affect the length of hospital stay (LOS) after anterior cervical decompression and fusion (ACDF) procedures.
  • Significant factors influencing LOS include sex, socio-economic deprivation, smoking status, diabetes, and chronic obstructive pulmonary disease (COPD), with Asian patients experiencing longer stays.
  • An XGBoost machine learning model was developed, achieving over 80% accuracy in predicting LOS, but further updates are necessary to incorporate additional factors for better decision-making in healthcare.
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Radiation-Associated Vestibular Schwannomas: Case Series and Literature Review.

World Neurosurg

August 2024

Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA; Otolaryngology-Head and Neck Surgery, Mayo Clinic, Rochester, Minnesota, USA.

Article Synopsis
  • The study investigates the potential long-term effects of radiation treatment, particularly focusing on the rare occurrence of radiation-induced vestibular schwannomas (VSs) among patients who received radiation that covered the posterior fossa.* -
  • A review of eight cases revealed that patients had a median age of 15 years at the time of radiation and were diagnosed with VS a median of 51 years later, with some tumor characteristics noted, such as adherence to the facial nerve.* -
  • The findings suggest that while the occurrence of radiation-induced VS is rare, more research is needed to understand its causative relationship with radiation exposure and to improve management strategies for affected patients.*
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Hypoxia coordinates the spatial landscape of myeloid cells within glioblastoma to affect survival.

Sci Adv

May 2024

Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust, University of Manchester, Manchester, UK.

Article Synopsis
  • Myeloid cells are abundant in glioblastoma (GBM) and exist in various forms with different activation states, but there’s limited understanding of how the tumor microenvironment (TME) affects their behavior.
  • Researchers used advanced imaging techniques to analyze and map these myeloid cell populations within the GBM TME, revealing that their distribution is influenced by factors like tissue hypoxia and specific signaling molecules.
  • The study found that the organization of these myeloid cells in certain tumor areas corresponds to patient survival rates, providing important insights into how these cells may impact clinical outcomes in GBM patients.
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Prevalence, treatment and correlates of depression in multiple sclerosis.

Mult Scler Relat Disord

July 2024

Institute of Systems, Molecular and Integrative Biology, University of Liverpool, UK; Walton Centre NHS Trust, Liverpool, UK.

Background: The prevalence of depression in Multiple Sclerosis (MS) is often assessed by administering patient reported outcome measures (PROMs) examining depressive symptomatology to population cohorts; a recent review summarised 12 such studies, eight of which used the Hospital Anxiety and Depression Scale-Depression (HADS-D). In clinical practice, depression is diagnosed by an individual structured clinical interview; diagnosis often leads to treatment options including antidepressant medication. It follows that an MS population will include those whose current depressive symptoms meet threshold for depression diagnosis, plus those who previously met diagnostic criteria for depression and have been treated such that depressive symptoms have improved below that threshold.

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Genome sequence analyses identify novel risk loci for multiple system atrophy.

Neuron

July 2024

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA. Electronic address:

Article Synopsis
  • Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
  • A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
  • The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
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  • - Meningiomas are the most common primary brain tumors in adults, with an increasing incidence linked to aging and better neuroimaging, and while many are benign, some are aggressive and treatment-resistant, leading to serious health impacts.
  • - Recent advancements in understanding meningioma biology have introduced molecular biomarkers for diagnosis and prognosis, but a standardized molecular classification for these tumors is still lacking.
  • - A comprehensive consensus review by the International Consortium on Meningiomas aims to guide clinicians and researchers by covering proposed classifications, novel treatment strategies, ongoing studies, and unique management approaches for different patient populations.
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Introduction: Prehospital identification of intracerebral haemorrhage (ICH) in suspected stroke cases may enable the initiation of appropriate treatments and facilitate better-informed transport decisions. This scoping review aims to examine the literature to identify early clinical features and portable devices for the detection of ICH in the prehospital setting.

Methods: Three databases were searched via Ovid (MEDLINE, EMBASE and CENTRAL) from inception to August 2022 using prespecified search strategies.

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Addressing ethnic disparities in neurological research in the United Kingdom: An example from the prospective multicentre COVID-19 Clinical Neuroscience Study.

Clin Med (Lond)

May 2024

Institute of Infection, Veterinary and Ecological Science, University of Liverpool, NIHR HPRU for Emerging and Zoonotic Infection, Liverpool, United Kingdom; The Walton Centre NHS Foundation Trust, Department of Neurology, Liverpool, United Kingdom.

Article Synopsis
  • Minority ethnic groups are often underrepresented in research, which affects the validity of findings; the study aimed to improve recruitment strategies for a study on neurological issues related to COVID-19.
  • Involving 807 participants, the research found a good representation of various ethnicities, with specific data showing centers in London attracted more non-White participants.
  • The study concluded that it's possible to overcome recruitment barriers for underrepresented ethnic groups using targeted strategies identified in their research.
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MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.

Lancet Neurol

May 2024

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

Article Synopsis
  • Pick's disease is a rare form of frontotemporal dementia characterized by Pick bodies in the brain, which are linked to the MAPT gene and its haplotypes, H1 and H2.
  • The study aimed to investigate how the MAPT H2 haplotype influences the risk, age of onset, and duration of Pick's disease.
  • Data was collected from 338 individuals with confirmed Pick's disease across multiple sites, and associations of MAPT variants with the disease were analyzed using statistical models.
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[Not Available].

Alzheimers Dement

May 2024

Hurvitz Brain Sciences Program, Sunnybrook Research Institute, Toronto, Ontario, Canada.

Article Synopsis
  • Effective longitudinal biomarkers, like cerebral perfusion, are crucial for tracking disease progression in presymptomatic genetic frontotemporal dementia (FTD) carriers.
  • The study examined cerebral perfusion in various genetic FTD groups using advanced MRI techniques and found declines in gray matter perfusion across all groups, with specific regional patterns.
  • Results suggest that monitoring cerebral perfusion could serve as an early biomarker for detecting FTD before symptoms appear, especially highlighting differences among genetic subgroups.
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