Journals Neuropathology and Applied Neu...

Neuropathology and Applied Neurobiology
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
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
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
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
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
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
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
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
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
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
Ágoston Patthy, János Hanics, Gergely Zachar, Gábor G Kovács, Tibor Harkany, Alán Alpár
AIMS: The endocannabinoid system with its type 1 cannabinoid receptor (CB1 R) expressed in postmitotic neuroblasts is a critical chemotropic guidance module with its actions cascading across neurogenic commitment, neuronal polarization and synaptogenesis in vertebrates. Here, we present the systematic analysis of regional CB1 R expression in the developing human brain from gestational week 14 until birth. In parallel, we diagrammed differences in CB1 R development in Down syndrome fetuses and identified altered CB1 R signalling...
January 30, 2023: Neuropathology and Applied Neurobiology
Braulio Martinez De La Cruz, Chris Gell, Robert Markus, Ian Macdonald, Rupert Fray, Helen Miranda Knight
N6-methyladenosine modification of RNA (m6 A) regulates translational control which may influence neuronal dysfunction underlying neurodegenerative diseases. Using microscopy and a machine learning approach, we performed cellular profiling of m6 A-RNA abundance and YTHDF1/YTHDF3 m6 A reader expression within four regions of the human brain from non-affected individuals and individuals with Parkinson's disease, Dementia with Lewy bodies (DLB) or Mild Cognitive Impairment (MCI). In non-diseased tissue, we found m6 A-modified RNAs showed cell-type and sub-compartment-specific variation...
January 29, 2023: Neuropathology and Applied Neurobiology
Antonello Cardoni, Sabina Barresi, Eleonora Piccirilli, Viola Alesi, Evelina Miele, Isabella Giovannoni, Silvia Genovese, Giada Del Baldo, Francesca Diomedi-Camassei, Manila Antonelli, Felice Giangaspero, Chiara Puggioni, Andrea Carai, Giovanna Stefania Colafati, Angela Mastronuzzi, Marco Gessi, Rita Alaggio, Sabrina Rossi
No abstract text is available yet for this article.
January 29, 2023: Neuropathology and Applied Neurobiology
Paula Ferrer-Raventós, David Puertollano-Martín, Marta Querol-Vilaseca, Érika Sánchez-Aced, Natalia Valle-Tamayo, Alba Cervantes-Gonzalez, Raúl Nuñez-Llaves, Jordi Pegueroles, Oriol Dols-Icardo, Maria Florencia Iulita, Iban Aldecoa, Laura Molina-Porcel, Raquel Sánchez-Valle, Juan Fortea, Olivia Belbin, Sònia Sirisi, Alberto Lleó
AIMS: Amyloid Precursor Protein (APP) 𝛽-C-terminal fragment (𝛽CTF) may have a neurotoxic role in Alzheimer´s disease (AD). 𝛽CTF accumulates in the brains of patients with sporadic (SAD) and genetic forms of Alzheimer's Disease (AD). Synapses degenerate early during the pathogenesis of AD. We studied whether the 𝛽CTF accumulates in synapses in SAD, autosomal dominant AD (ADAD) and Down syndrome (DS). METHODS: We used Array tomography to determine APP at synapses in human AD tissue...
January 26, 2023: Neuropathology and Applied Neurobiology
Vietxuan Phan, Denisa Hathazi, Corinna Preuße, Artur Czech, Erik Freier, Gerta Shema, René Zahedi, Andreas Roos
OBJECTIVES: Chloroquine (CQ) is an antimalarial drug with a growing number of applications as recently demonstrated in attempts to treat Covid-19. For decades, it has been well-known that skeletal and cardiac muscle cells might display vulnerability against CQ exposure resulting in the clinical manifestation of a CQ-induced myopathy. In line with the known effect of CQ on inhibition of the lysosomal function and thus cellular protein clearance, the build-up of autophagic vacuoles along with protein aggregates is a histological hallmark of the disease...
January 12, 2023: Neuropathology and Applied Neurobiology
Julie Tahraoui-Bories, Antoine Mérien, Anchel Gonzàlez-Barriga, Jeanne Lainé, Céline Leteur, Hélène Polvèche, Alexandre Carteron, Juliette Duchesne De Lamotte, Camille Nicoleau, Jérome Polentes, Margot Jarrige, Màrio Gomes-Pereira, Erwann Ventre, Pauline Poydenot, Denis Furling, Laurent Schaeffer, Claire Legay, Cécile Martinat
AIMS: Myotonic dystrophy type I (DM1) is one the most frequent muscular dystrophies in adults. Although DM1 has long been considered mainly a muscle disorder, growing evidence suggests the involvement of peripheral nerves in the pathogenicity of DM1 raising the question of whether motoneurons (MNs) actively contribute to neuromuscular defects in DM1. METHODS: By using micropatterned 96-well plates as a co-culture platform, we generated a functional neuromuscular model combining DM1 and MBNL-knock-out human induced pluripotent stem cells-derived MNs and human healthy skeletal muscle cells...
December 28, 2022: Neuropathology and Applied Neurobiology
Megha Murthy, Gemma Shireby, Yasuo Miki, Emmanuelle Viré, Tammaryn Lashley, Thomas T Warner, Jonathan Mill, Conceição Bettencourt
AIMS: Epigenetic clocks are widely applied as surrogates for biological age in different tissues and/or diseases, including several neurodegenerative diseases. Despite white matter (WM) changes often being observed in neurodegenerative diseases, no study has investigated epigenetic ageing in white matter. METHODS: We analysed the performances of two DNA methylation-based clocks, DNAmClockMulti and DNAmClockCortical , in post-mortem WM tissue from multiple subcortical regions and the cerebellum, and in oligodendrocyte-enriched nuclei...
December 21, 2022: Neuropathology and Applied Neurobiology
Ancor Sanz-García, Patricia Sánchez-Jiménez, Inmaculada Granero-Cremades, María De Toledo, Paloma Pulido, Marta Navas, José María Frade, Matilde Desirée Pereboom-Maicas, Cristina Virginia Torres-Díaz, María C Ovejero-Benito
AIMS: Epilepsy is one of the most prevalent neurological diseases. A third of patients with epilepsy remain drug-resistant. The exact aetiology of drug-resistant epilepsy (DRE) is still unknown. Neuronal tetraploidy has been associated with neuropathology. The aim of this study was to assess the presence of tetraploid neurons and astrocytes in DRE. METHODS: For that purpose, cortex, hippocampus and amygdala samples were obtained from patients subjected to surgical resection of the epileptogenic zone...
December 21, 2022: Neuropathology and Applied Neurobiology
Filip Milosavljević, Irene Brusini, Andrea Atanasov, Marina Manojlović, Marija Vučić, Zorana Oreščanin-Dušić, Jelena Brkljačić, Čedo Miljević, Aleksandra Nikolić-Kokić, Duško Blagojević, Chunliang Wang, Peter Damberg, Vesna Pešić, Rachel F Tyndale, Magnus Ingelman-Sundberg, Marin M Jukić
AIMS: CYP2C19 transgenic mouse expresses the human CYP2C19 gene in the liver and developing brain and it exhibits altered neurodevelopment associated with impairments in emotionality and locomotion. Since the validation of new animal models is essential for the understanding of the aetiology and pathophysiology of movement disorders, the objective was to characterize motoric phenotype in CYP2C19 transgenic mice and to investigate its validity as a new animal model of ataxia. METHODS: The rotarod, paw-print and beam-walking tests were utilized to characterize the motoric phenotype...
December 19, 2022: Neuropathology and Applied Neurobiology
Anne Albers, Dorothee Cäcilia Spille, Eric Suero-Molina, Frieder Schaumburg, Walter Stummer, Werner Paulus, Christian Thomas
No abstract text is available yet for this article.
December 19, 2022: Neuropathology and Applied Neurobiology
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