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Journals Neuropathology and Applied Neu...

Neuropathology and Applied Neurobiology

https://read.qxmd.com/read/37209022/increased-number-and-domain-of-interlaminar-astrocytes-in-layer-i-of-the-temporal-cortex-in-epilepsy
#1
JOURNAL ARTICLE
Nan Zhou, Zhen Fan, Yusheng Tong, Xing Xiao, Yongsheng Xie, Zengxin Qi, Liang Chen
AIM: The functions of the interlaminar astrocytes in layer I of the human cortex are currently unknown. Here, we aimed to explore whether there is any morphological remodelling of interlaminar astrocytes in layer I of the temporal cortex in epilepsy. METHODS: Tissues were obtained from 17 epilepsy surgery patients and 17 post-mortem age-matched controls. In addition, 10 Alzheimer's disease (AD) patients and 10 age-matched controls were used as the disease control group...
May 20, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37021628/timing-is-everything-a-connection-between-medulloblastoma-prognosis-and-fetal-cerebellar-development
#2
REVIEW
Daniel Williamson, Edward C Schwalbe, Simon Bailey, Steven C Clifford
The childhood brain tumour medulloblastoma is typically classified into multiple discrete molecular subgroups with characteristic DNA methylation and expression patterns. Several of these subgroups are used as, or proposed to be, an effective basis for treatment stratification. Here, we highlight the close connection between the findings described in a recent series of studies which, together, strongly imply a continuous association between survival outcome, the transcriptional profile of a Group3/Group4 (i...
April 6, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37020385/tuberous-sclerosis-complex-1-tsc1-contributes-to-selective-neuronal-vulnerability-in-alzheimer-s-disease
#3
JOURNAL ARTICLE
Bryan A Adriaanse, Sinead Brady, Minghui Wang, Daniel J Beard, Jonathan I Spencer, Jonathan Pansieri, Brad A Sutherland, Margaret M Esiri, Alastair M Buchan, Zameel Cader, Bin Zhang, Gabriele C DeLuca
AIMS: Selective neuronal vulnerability of hippocampal Cornu Ammonis (CA)-1 neurons is a pathological hallmark of Alzheimer's Disease (AD) with an unknown underlying mechanism. We interrogated the expression of Tuberous Sclerosis Complex-1 (TSC1; hamartin) and mTOR-related proteins in hippocampal CA1 and CA3 subfields. METHODS: A human post-mortem cohort of mild (n=7) and severe (n=10) AD and non-neurological controls (n=9) was used for quantitative and semi-quantitative analyses...
April 5, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36951214/tdp-43-pathology-and-functional-deficits-in-wild-type-and-als-ftd-mutant-cyclin-f-mouse-models
#4
JOURNAL ARTICLE
Annika van Hummel, Miheer Sabale, Magdalena Przybyla, Julia van der Hoven, Gabriella Chan, Astrid F Feiten, Roger S Chung, Lars M Ittner, Yazi D Ke
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is characterised by a progressive loss of upper and lower motor neurons leading to muscle weakness and eventually death. Frontotemporal dementia (FTD) presents clinically with significant behavioural decline. Approximately 10% of cases have a known family history and disease-linked mutations in multiple genes have been identified in FTD and ALS. More recently, ALS and FTD-linked variants have been identified in the CCNF gene, which accounts for an estimated 0...
March 23, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36919233/occurrence-of-focal-myositis-during-beh%C3%A3-et-s-disease-the-identification-of-a-specific-vasculitis-associated-focal-myopathy
#5
JOURNAL ARTICLE
Laure Gallay, Arnaud Hot, Yves Allenbach, Delphine Maucort-Boulch, Cloe Comarmond, Cindy Marques, Laurent Perard, Anne Simon, Kuberaka Mariampillai, Patrice Cacoub, Laure Mery-Bossard, Pascal Cathebras, Leonard Feasson, Alice Berezne, Chafika Morati, Lola Lessard, Marie Faruch, Nathalie Streichenberger, David Saadoun
OBJECTIVE: This study aimed to report the association of focal myositis (FM) and Behçet's disease (BD), and to analyse the main characteristics of such an association. METHODS: Retrospective multicentre study of patients with BD and FM (BD+FM+ group) and those without FM (BD-FM+ group). Clinical, laboratory, radiological, pathological, treatment, and outcome data were analysed. RESULTS: The BD+FM+ group included 10 patients; the median [IQR] age at BD diagnosis was 25 [16-35] years, and at FM diagnosis, it was 30 [26-42] years...
March 14, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36879456/patient-derived-xenograft-mouse-models-to-investigate-tropism-to-the-central-nervous-system-and-retina-of-primary-and-secondary-central-nervous-system-lymphoma
#6
JOURNAL ARTICLE
Lisa Kristina Isbell, Cordula Tschuch, Soroush Doostkam, Silvia Waldeck, Geoffroy Andrieux, Khalid Shoumariyeh, Dorothee Lenhard, Hans Eckart Schaefer, Peter Christoph Reinacher, Ingrid Bartsch, Milena Pantic, Janaki Manoja Vinnakota, Vinodh Kakkassery, Elisabeth Schorb, Florian Scherer, Anna Verena Frey, Melanie Boerries, Gerald Illerhaus, Justus Duyster, Julia Schueler, Nikolas von Bubnoff
AIMS: How and why lymphoma cells home to the central nervous system and vitreoretinal compartment in primary diffuse large B-cell lymphoma of the central nervous system remain unknown. Our aim was to create an in vivo model to study lymphoma cell tropism to the central nervous system. METHODS: We established a patient-derived central nervous system lymphoma xenograft mouse model and characterised xenografts derived from 4 primary and 4 secondary central nervous system lymphoma patients using immunohistochemistry, flow cytometry and nucleic acid sequencing technology...
March 6, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36868780/schwann-cells-and-myelin-in-human-peripheral-nerve-major-protein-components-vary-with-age-axon-size-and-pathology
#7
JOURNAL ARTICLE
Alan Pestronk, Robert E Schmidt, Robert Bucelli, Julia Sim
AIMS: We examined major protein components of Schwann cells (SC) and myelin in normal and diseased human peripheral nerves. METHODS: We evaluated distributions of neural cell adhesion molecule (NCAM), P0 protein (P0), and myelin basic protein (MBP) in frozen sections of 98 sural nerves. RESULTS: Non-myelinating SC in normal adults, contained NCAM, but not P0 or MBP. With chronic axon loss, SC without associated axons (Büngner band cells) often co-stained for both NCAM and P0...
March 3, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36861782/fibrocartilaginous-cerebral-and-spinal-emboli-a-report-of-2-cases-with-histopathological-confirmation
#8
JOURNAL ARTICLE
Fouzia Ziad, David Wang, Andrew Chancellor, Zakier Hussain, Adam El-Dieb, Sanjeevan Pasupati, Thomas Robertson
No abstract text is available yet for this article.
March 2, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36861420/soluble-amyloid-%C3%AE-dimers-are-resistant-to-amyloid-%C3%AE-prion-conversion-in-vivo-suggesting-antiprion-properties
#9
JOURNAL ARTICLE
Else F van Gerresheim, Andreas Müller-Schiffmann, Sandra Schäble, Bastijn Koopmans, Maarten Loos, Carsten Korth
According to the instructions for authors, short communications should be published without abstract.
March 2, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36855904/motor-neuron-involvement-threatens-survival-in-spinocerebellar-ataxia-type-1
#10
JOURNAL ARTICLE
Giulia Coarelli, Maya Tchikviladzé, Pauline Dodet, Isabelle Arnulf, Perrine Charles, Frederic Tankeré, Thomas Similowski, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Alexandra Durr
No abstract text is available yet for this article.
March 1, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36843390/dna-methylation-based-classification-of-glioneuronal-tumours-synergises-with-histology-and-radiology-to-refine-accurate-molecular-stratification
#11
JOURNAL ARTICLE
Thomas J Stone, Kshitij Mankad, A I Peng Tan, Wajanat Jan, Jessica C Pickles, Maria Gogou, Jane Chalker, Iwona Slodkowska, Emily Pang, Mark Kristiansen, Gaganjit K Madhan, Leysa Forrest, Deborah Hughes, Eleni Koutroumanidou, Talisa Mistry, Olumide Ogunbiyi, Saira W Ahmed, J Helen Cross, Mike Hubank, Darren Hargrave, Thomas S Jacques
AIMS: Glioneuronal tumours (GNTs) are poorly distinguished by their histology and lack robust diagnostic indicators. Previously, we showed that common GNTs comprise two molecularly distinct groups, correlating poorly with histology. To refine diagnosis, we constructed a methylation-based model for GNT classification, subsequently evaluating standards for molecular stratification by methylation, histology and radiology. METHODS: We comprehensively analysed methylation, radiology and histology for 83 GNT samples: a training cohort of 49, previously classified into molecularly defined groups by genomic profiles, plus a validation cohort of 34...
February 26, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36811295/paths-to-hippocampal-damage-in-nmosd
#12
JOURNAL ARTICLE
Mona Zakani, Magdalini Nigritinou, Markus Ponleitner, Yoshiki Takai, Daniel Hofmann, Sophie Hillebrand, Romana Höftberger, Jan Bauer, Balint Lasztoczi, Tatsuro Misu, Gregor Kasprian, Paulus Rommer, Monika Bradl
AIMS: Many patients with neuromyelitis optica spectrum disorders (NMOSD) suffer from cognitive impairment affecting memory, processing speed, and attention, and suffer from depressive symptoms. Since some of these manifestations could trace back to the hippocampus, several magnetic resonance imaging studies have been performed in the past, with a number of groups describing volume loss of the hippocampus in NMOSD patients, while others did not observe such changes. Here, we addressed these discrepancies...
February 21, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36798010/a-standardized-protocol-for-blood-and-cerebrospinal-fluid-collection-and-processing-for-biomarker-research-in-ataxia
#13
JOURNAL ARTICLE
Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Dina Pereira, Joana Afonso Ribeiro, Inês Cunha, Jeannette Huebener-Schmid, Mafalda Raposo, Ana F Ferreira, Jennifer Faber, Sandra Kuhs, Hector Garcia-Moreno, Kathrin Reetz, Andreas Thieme, Jon Infante, Bart P C van de Warrenburg, Paola Giunti, Olaf Riess, Ludger Schöls, Manuela Lima, Thomas Klockgether, Cristina Januário, Luís Pereira de Almeida
The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado Joseph disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardization was done previously to study visit initiation...
February 16, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36776123/effects-of-mutant-huntingtin-in-oxytocin-neurons-on-non-motor-features-of-huntington-s-disease
#14
JOURNAL ARTICLE
Sofia Bergh, Sanaz Gabery, Simone Tonetto, Deniz Kirik, Åsa Petersén, Rachel Y Cheong
BACKGROUND: Early non-motor features including anxiety, depression and altered social cognition are present in Huntington's disease (HD). The underlying neurobiological mechanisms are not known. Oxytocin (OXT) is involved in the regulation of emotion, social cognition, and metabolism and our previous work showed that the OXT system is affected early in HD. The aim of the study was to investigate the potential causal relationship between the selective expression of mutant huntingtin (mHTT) in OXT neurons and the development of non-motor features and neuropathology...
February 12, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36765387/muscleblind-like-2-knockout-shifts-adducin-1-isoform-expression-and-alters-dendritic-spine-dynamics-of-cortical-neurons-during-brain-development
#15
JOURNAL ARTICLE
Chia-Wei Huang, Kuang-Yung Lee, Peng-Tzu Lin, Fang-Shin Nian, Haw-Yuan Cheng, Chien-Hui Chang, Cheng-Yen Liao, Yen-Lin Su, Carol Seah, Ching Li, Yu-Fu Chen, Mei-Hsuan Lee, Jin-Wu Tsai
AIMS: Muscleblind-Like 2 (MBNL2) plays a crucial role in regulating alternative splicing during development and mouse loss of MBNL2 recapitulates brain phenotypes in myotonic dystrophy (DM). However, the mechanisms underlying DM neuropathogenesis during brain development remain unclear. In this study, we aim to investigate the impact of MBNL2 elimination on neuronal development by Mbnl2 conditional knockout (CKO) mouse models. METHODS: To create Mbnl2 knockout neurons, cDNA encoding Cre-recombinase was delivered into neural progenitors of Mbnl2flox/flox mouse brains by in utero electroporation...
February 10, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36751013/icos-gene-disruption-in-nod-mice-elicits-myositis-associated-with-anti-troponin-t3-autoantibodies
#16
JOURNAL ARTICLE
Gwladys Bourdenet, Baptiste Pileyre, Laurent Drouot, Jérémie Martinet, Chantal Bécourt, Marion Carrette, Gaétan Riou, Cécile Bergua, Thara Jaworski, Philippe Chan, Laetitia Jean, Manuel Fréret, Pascal Cosette, Christian Boitard, Catalina Abad, Olivier Boyer
AIMS: Idiopathic inflammatory myopathies (IIM) are autoimmune inflammatory disorders leading to skeletal muscle weakness and disability. The pathophysiology of IIM is poorly understood due to the scarcity of animal disease models. Genetic deletion of Icos or Icosl (Inducible T-cell co-stimulator deficient/ligand) in non-obese diabetic (NOD) mice leads to muscle disease. Our aim was to characterise Icos-/- NOD myopathy and to search for novel autoantibodies (aAbs) in this model. METHODS: Diabetes, weight, myopathy incidence/clinical score and grip strength were assessed over time...
February 7, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36846881/alzheimer-s-disease-pathology-concomitant-with-memory-impairment-in-late-onset-multiple-system-atrophy
#17
LETTER
Yasuo Miki, Conceição Bettencourt, Zane Jaunmuktane, Janice L Holton, Thomas T Warner, Koichi Wakabayashi
No abstract text is available yet for this article.
February 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36734037/muscle-biopsy-practices-in-the-evaluation-of-neuromuscular-disease-a-systematic-literature-review
#18
JOURNAL ARTICLE
Laura Ross, Penny McKelvie, Katrina Reardon, Huon Wong, Ian Wicks, Jessica Day
AIMS: Muscle biopsy techniques range from needle muscle biopsy (NMB) and conchotome biopsy to open surgical biopsy. It is unknown whether specific biopsy techniques offer superior diagnostic yield or differ in procedural complication rates. Therefore, we aimed to compare the diagnostic utility of NMB, conchotome and open muscle biopsies in the assessment of neuromuscular disorders. METHODS: A systematic literature review of the EMBASE and Medline (Ovid) databases was performed to identify original, full-length research articles that described the muscle biopsy technique used to diagnose neuromuscular disease in both adult and paediatric patient populations...
February 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36564356/arteriolar-neuropathology-in-cerebral-microvascular-disease
#19
REVIEW
Chuo Fang, Shino D Magaki, Ronald C Kim, Raj N Kalaria, Harry V Vinters, Mark Fisher
Cerebral microvascular disease (MVD) is an important cause of vascular cognitive impairment. MVD is heterogeneous in aetiology, ranging from universal ageing to the sporadic (hypertension, sporadic cerebral amyloid angiopathy [CAA] and chronic kidney disease) and the genetic (e.g., familial CAA, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [CADASIL] and cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [CARASIL]). The brain parenchymal consequences of MVD predominantly consist of lacunar infarcts (lacunes), microinfarcts, white matter disease of ageing and microhaemorrhages...
February 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/36544434/the-clinico-pathological-characterisation-of-focal-cortical-dysplasia-type-iib-genetically-defined-by-mtor-mosaicism
#20
JOURNAL ARTICLE
Yajie Wang, Tao Yu, Ingmar Blümcke, Yanning Cai, Ke Sun, Runshi Gao, Yujiao Wang, Yongjuan Fu, Wei Wang, Yuping Wang, Guojun Zhang, Yueshan Piao
AIMS: Focal cortical dysplasia (FCD) is a major cause of drug-resistant paediatric epilepsy and is amenable to successful neurosurgical resection. FCD ILAE Type IIb is the most common FCD subtype, and brain somatic mutations affecting the mTOR pathway play a major pathogenic role. The aim of this study was to comprehensively describe the genotype-phenotype association of 20 patients with histopathologically confirmed FCDIIb using next generation sequencing (NGS) of paired blood-brain samples...
February 2023: Neuropathology and Applied Neurobiology
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