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    1856 results match your criteria Brain Pathology[Journal]

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    Early movement restriction leads to enduring disorders in muscle and locomotion.
    Brain Pathol 2018 Feb 13. Epub 2018 Feb 13.
    Neurosciences Intégratives et Adaptatives, UMR 7260, CNRS, Aix Marseille Université, 13331 Marseille, France.
    Motor control and body representation in the central nervous system (CNS) as well as musculoskeletal architecture and physiology are shaped during development by sensorimotor experience and feedback, but the emergence of locomotor disorders during maturation and their persistence over time remain a matter of debate in the absence of brain damage. By using transient immobilization of the hind limbs, we investigated the enduring impact of postnatal sensorimotor restriction (SMR) on gait and posture on treadmill, age-related changes in locomotion, musculoskeletal histopathology and Hoffmann reflex in adult rats without brain damage. SMR degrades most gait parameters and induces overextended knees and ankles, leading to digitigrade locomotion that resembles equinus. Read More

    Aging-related tau astrogliopathy (ARTAG): Not only tau phosphorylation in astrocytes.
    Brain Pathol 2018 Feb 3. Epub 2018 Feb 3.
    CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases), Institute of Health Carlos III, Ministry of Economy and Competitiveness.
    Aging-related tau astrogliopathy (ARTAG) is defined by the presence of two types of tau-bearing astrocytes: thorn-shaped astrocytes (TSAs) and granular/fuzzy astrocytes in the brain of old-aged individuals. The present study is focused on TSAs in rare forms of ARTAG with no neuronal tau pathology or restricted to entorhinal and transentorhinal cortices, to avoid bias from associated tauopathies. TSAs show 4Rtau phosphorylation at several specific sites and abnormal tau conformation, but they lack ubiquitin and they are not immunostained with tau-C3 antibodies which recognize truncated tau at Asp421. Read More

    Purine-related metabolites and their converting enzymes are altered in frontal, parietal and temporal cortex at early stages of Alzheimer's disease pathology.
    Brain Pathol 2018 Jan 24. Epub 2018 Jan 24.
    Facultad de Ciencias y Tecnologías Químicas/Facultad de Medicina de Ciudad Real, Departamento de Química Inorgánica, Orgánica y Bioquímica, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla-La Mancha, Ciudad Real, Spain.
    Adenosine, hypoxanthine, xanthine, guanosine and inosine levels were assessed by HPLC, and the activity of related enzymes 5'-nucleotidase (5'-NT), adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) measured in frontal (FC), parietal (PC) and temporal (TC) cortices at different stages of disease progression in Alzheimer's disease (AD) and in age-matched controls. Significantly decreased levels of adenosine, guanosine, hypoxanthine and xanthine, and apparently less inosine, are found in FC from the early stages of AD; PC and TC show an opposing pattern, as adenosine, guanosine and inosine are significantly increased at least at determinate stages of AD whereas hypoxanthine and xanthine levels remain unaltered. 5'-NT is reduced in membranes and cytosol in FC mainly at early stages but not in PC, and only at advanced stages in cytosol in TC. Read More

    Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.
    Brain Pathol 2018 Jan 17. Epub 2018 Jan 17.
    Department of Pharmaceutical and Pharmacological Sciences, Cell Metabolism, KU Leuven - University of Leuven, Leuven, Belgium.
    Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4). Read More

    Synapsin III is a key component of α-synuclein fibrils in Lewy bodies of PD brains.
    Brain Pathol 2018 Jan 13. Epub 2018 Jan 13.
    Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
    Lewy bodies (LB) and Lewy neurites (LN), which are primarily composed of α-synuclein (α-syn), are neuropathological hallmarks of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We recently found that the neuronal phosphoprotein synapsin III (syn III) controls dopamine release via cooperation with α-syn and modulates α-syn aggregation. Here, we observed that LB and LN, in the substantia nigra of PD patients and hippocampus of one subject with DLB, displayed a marked immunopositivity for syn III. Read More

    CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue.
    Brain Pathol 2017 Dec 11. Epub 2017 Dec 11.
    Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
    Central nervous system high-grade neuroepithelial tumors with BCOR alteration (CNS HGNET-BCOR) are a recently reported rare entity, identified as a small fraction of tumors previously institutionally diagnosed as so-called CNS primitive neuroectodermal tumors. Their genetic characteristic is a somatic internal tandem duplication in the 3' end of BCOR (BCOR ITD), which has also been found in clear cell sarcomas of the kidney (CCSK) and soft tissue undifferentiated round cell sarcomas/primitive myxoid mesenchymal tumors of infancy (URCS/PMMTI), and these BCOR ITD-positive tumors have been reported to share similar pathological features. In this study, we performed a clinicopathological and molecular analysis of six cases of CNS HGNET-BCOR, and compared them with their counterparts in the kidney and soft tissue. Read More

    Dominant role of microglial and macrophage innate immune responses in human ischemic infarcts.
    Brain Pathol 2017 Dec 8. Epub 2017 Dec 8.
    Center for Brain Research, Medical University of Vienna, Austria.
    Inflammatory mechanisms, involving granulocytes, T-cells, B-cells, macrophages and activated microglia, have been suggested to play a pathogenic role in experimental models of stroke and may be targets for therapeutic intervention. However, knowledge on the inflammatory response in human stroke lesions is limited. Here, we performed a quantitative study on the inflammatory reaction in human ischemic infarct lesions. Read More

    RELN signaling modulates glioblastoma growth and substrate-dependent migration.
    Brain Pathol 2017 Dec 8. Epub 2017 Dec 8.
    Department of Neuropathology, Regensburg University Hospital, Regensburg, Germany.
    Glioblastoma (GBM) represents the most common and most malignant type of primary brain tumor and significantly contributes to cancer morbidity and mortality. Invasion into the healthy brain parenchyma is a major feature of glioblastoma aggressiveness. Reelin (RELN) is a large secreted extracellular matrix glycoprotein that regulates neuronal migration and positioning in the developing brain and sustains functionality in the adult brain. Read More

    BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions are frequent in epithelioid glioblastomas: a histological and molecular analysis focusing on intratumoral heterogeneity.
    Brain Pathol 2017 Nov 4. Epub 2017 Nov 4.
    Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
    Epithelioid glioblastoma (E-GBM) is a rare aggressive variant of IDH-wildtype glioblastoma newly recognized in the 2016 World Health Organization classification, composed predominantly of monotonous, patternless sheets of round cells with laterally positioned nuclei and plump eosinophilic cytoplasm. Approximately 50% of E-GBM harbor BRAF V600E, which is much less frequently found in other types of glioblastomas. Most E-GBM are recognized as primary/de novo lesions; however, several E-GBM with co- or pre-existing lower-grade lesions have been reported. Read More

    Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.
    Brain Pathol 2017 Oct 13. Epub 2017 Oct 13.
    Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Spain.
    Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD is caused by variations in the proteolipid protein gene PLP1, which encodes the two major myelin proteins of the central nervous system, PLP and its spliced isoform DM20, in oligodendrocytes. Large duplications including the entire PLP1 gene are the most frequent causative mutation leading to the classical form of PMD. Read More

    Downregulated apoptosis and autophagy after anti-Aβ immunotherapy in Alzheimer's disease.
    Brain Pathol 2017 Oct 13. Epub 2017 Oct 13.
    Clinical Neurosciences, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
    Aβ immunization of Alzheimer's disease (AD) patients in the AN1792 (Elan Pharmaceuticals) trial caused Aβ removal and a decreased density of neurons in the cerebral cortex. As preservation of neurons may be a critical determinant of outcome after Aβ immunization, we have assessed the impact of previous Aβ immunization on the expression of a range of apoptotic proteins in post-mortem human brain tissue. Cortex from 13 AD patients immunized with AN1792 (iAD) and from 27 nonimmunized AD (cAD) cases was immunolabeled for proapoptotic proteins implicated in AD pathophysiology: phosphorylated c-Jun N-terminal kinase (pJNK), activated caspase3 (a-casp3), phosphorylated GSK3β on tyrosine 216 (GSK3β), p53 and Cdk5/p35. Read More

    Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement.
    Brain Pathol 2017 Oct 9. Epub 2017 Oct 9.
    Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
    Astroblastoma is a rare, enigmatic tumor of the central nervous system (CNS) which shares some clinicopathologic aspects with other CNS tumors, especially ependymoma. To further clarify the nature of astroblastoma, we performed clinicopathologic and molecular genetic studies on eight cases of astroblastoma. The median age of the patients was 14. Read More

    Epithelioid glioblastomas stratify into established diagnostic subsets upon integrated molecular analysis.
    Brain Pathol 2017 Oct 9. Epub 2017 Oct 9.
    Clinical Cooperation Unit Neuropathology (G380), German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg 69120, Germany.
    Epithelioid glioblastoma (eGBM) is a newly defined and rare GBM variant in the current WHO 2016 classification. BRAF V600E mutation is overrepresented in these tumors and there is known some morphological overlap with anaplastic epithelioid PXA (ePXA). In order to further elucidate this diagnostic category, we molecularly characterized 64 pediatric and adult examples initially diagnosed as "eGBM. Read More

    TREM2 expression in the human brain: a marker of monocyte recruitment?
    Brain Pathol 2017 Oct 7. Epub 2017 Oct 7.
    Clinical Neurosciences, Clinical and Experimental Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.
    Mutation in the triggering receptor expressed on myeloid cells (TREM) 2 gene has been identified as a risk factor for several neurodegenerative diseases including Alzheimer's disease (AD). Experimental studies using animal models of AD have highlighted a number of functions associated with TREM2 and its expression by microglial cells. It has therefore been assumed that this is also the case in humans. Read More

    Diffuse gliomas with FGFR3-TACC3 fusion have characteristic histopathological and molecular features.
    Brain Pathol 2017 Oct 4. Epub 2017 Oct 4.
    AP-HP, Hôpitaux Universitaires Pitié Salpêtrière - Charles Foix, Service de Neuropathologie Raymond Escourolle, Paris, France.
    Adult glioblastomas, IDH-wildtype represent a heterogeneous group of diseases. They are resistant to conventional treatment by concomitant radiochemotherapy and carry a dismal prognosis. The discovery of oncogenic gene fusions in these tumors has led to prospective targeted treatments, but identification of these rare alterations in practice is challenging. Read More

    Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.
    Brain Pathol 2017 Sep 28. Epub 2017 Sep 28.
    Department of Pathology, Division of Neuropathology, University of California, San Francisco, CA.
    Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p. Read More

    Spinal Lewy body pathology in older adults without an antemortem diagnosis of Parkinson's disease.
    Brain Pathol 2017 Sep 28. Epub 2017 Sep 28.
    Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL.
    To test the hypothesis that Lewy body pathology (LBs) is present in the spinal cord of older community-dwelling adults without a clinical diagnosis of Parkinson's disease (PD). We studied 162 prospective autopsies from older adults with PD (N = 6) and without PD (N = 156). We documented the presence of LBs in cerebrum and brainstem structures from each of the six regions used for Braak PD staging and four spinal cord levels (C5/6, T7, L4/5 and S4/5). Read More

    Neuronal Rho GTPase Rac1 elimination confers neuroprotection in a mouse model of permanent ischemic stroke.
    Brain Pathol 2017 Sep 28. Epub 2017 Sep 28.
    i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
    The Rho GTPase Rac1 is a multifunctional protein involved in distinct pathways ranging from development to pathology. The aim of the present study was to unravel the contribution of neuronal Rac1 in regulating the response to brain injury induced by permanent focal cerebral ischemia (pMCAO). Our results show that pMCAO significantly increased total Rac1 levels in wild type mice, mainly through rising nuclear Rac1, while a reduction in Rac1 activation was observed. Read More

    Fetal microchimerism in human brain tumors.
    Brain Pathol 2017 Sep 18. Epub 2017 Sep 18.
    Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
    Sex differences in cancer incidence and survival, including central nervous system tumors, are well documented. Multiple mechanisms contribute to sex differences in health and disease. Recently, the presence of fetal-in-maternal microchimeric cells has been shown to have prognostic significance in breast and colorectal cancers. Read More

    Hippocampal sclerosis, hippocampal neuron loss patterns and Tdp-43 in the aged population.
    Brain Pathol 2017 Aug 18. Epub 2017 Aug 18.
    Institute of Public Health, University of Cambridge, Cambridge, UK.
    Hippocampal neuron loss is a common neuropathological feature in old age with various underlying etiologies. Hippocampal sclerosis of aging (HS-Aging) is neuropathologically characterized by severe CA1 neuronal loss and frequent presence of transactive response DNA-binding protein of 43 kDa (TDP-43) aggregations. Its etiology is unclear and currently no standardized approaches to measure HS-Aging exist. Read More

    Multinodular and vacuolating neuronal tumors in epilepsy: dysplasia or neoplasia?
    Brain Pathol 2017 Aug 19. Epub 2017 Aug 19.
    Department of (Neuro)Pathology, Academic Medical Center, Amsterdam, The Netherlands.
    Multinodular and vacuolating neuronal tumor (MVNT) is a new pattern of neuronal tumour included in the recently revised WHO 2016 classification of tumors of the CNS. There are 15 reports in the literature to date. They are typically associated with late onset epilepsy and a neoplastic vs. Read More

    Protein astrogliopathies in human neurodegenerative diseases and aging.
    Brain Pathol 2017 Sep;27(5):675-690
    Center for Neurodegenerative Disease Research, Institute on Aging and Department of Pathology and Laboratory Medicine of the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
    Neurodegenerative diseases are characterized by progressive dysfunction and loss of neurons associated with depositions of pathologically altered proteins showing hierarchical involvement of brain regions. The role of astrocytes in the pathogenesis of neurodegenerative diseases is explored as contributors to neuronal degeneration or neuroprotection pathways, and also as potential mediators of the transcellular spreading of disease-associated proteins. Protein astrogliopathy (PAG), including deposition of amyloid-β, prion protein, tau, α-synuclein, and very rarely transactive response DNA-binding protein 43 (TDP-43) is not unprecedented or unusual in neurodegenerative diseases. Read More

    Stratification of astrocytes in healthy and diseased brain.
    Brain Pathol 2017 Sep;27(5):629-644
    Department of Neurobiology, Civitan International Research Center and Center for Glial Biology in Medicine, Evelyn F. McKnight Brain Institute, Atomic Force Microscopy & Nanotechnology Laboratories, 1719 6th Avenue South, CIRC 429, University of Alabama at Birmingham, Birmingham, AL 35294-0021.
    Astrocytes, a subtype of glial cells, come in variety of forms and functions. However, overarching role of these cell is in the homeostasis of the brain, be that regulation of ions, neurotransmitters, metabolism or neuronal synaptic networks. Loss of homeostasis represents the underlying cause of all brain disorders. Read More

    Diversity of astroglial responses across human neurodegenerative disorders and brain aging.
    Brain Pathol 2017 Sep;27(5):645-674
    Department of Pathology and Experimental Therapeutics, University of Barcelona, Barcelona, Spain.
    Astrogliopathy refers to alterations of astrocytes occurring in diseases of the nervous system, and it implies the involvement of astrocytes as key elements in the pathogenesis and pathology of diseases and injuries of the central nervous system. Reactive astrocytosis refers to the response of astrocytes to different insults to the nervous system, whereas astrocytopathy indicates hypertrophy, atrophy/degeneration and loss of function and pathological remodeling occurring as a primary cause of a disease or as a factor contributing to the development and progression of a particular disease. Reactive astrocytosis secondary to neuron loss and astrocytopathy due to intrinsic alterations of astrocytes occur in neurodegenerative diseases, overlap each other, and, together with astrocyte senescence, contribute to disease-specific astrogliopathy in aging and neurodegenerative diseases with abnormal protein aggregates in old age. Read More

    Alterations in the steroid biosynthetic pathways in the human prefrontal cortex in mood disorders: A post-mortem study.
    Brain Pathol 2017 Jul 27. Epub 2017 Jul 27.
    Netherlands Institute for Neuroscience, An Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, the Netherlands.
    Altered levels of steroids have been reported in the brain, cerebral spinal fluid and plasma of patients with mood disorders. Neuroimaging studies have reported both functional and structural alterations in mood disorders, for instance in the anterior cingulate cortex (ACC) and dorsolateral prefrontal cortex (DLPFC). In order to determine whether the endogenous production of steroids is altered in the ACC and DLPFC of patients with major depressive disorder (MDD) or bipolar disorder (BPD), quantitative real-time PCR was performed to detect mRNA expression level of key enzymes in the steroid biosynthetic pathways. Read More

    Tissue microarray methodology identifies complement pathway activation and dysregulation in progressive multiple sclerosis.
    Brain Pathol 2017 Jul 14. Epub 2017 Jul 14.
    Division of Infection and Immunity, Henry Wellcome Building, Cardiff University, Cardiff, CF14 4XW, United Kingdom.
    The complement pathway has potential contributions to both white (WM) and grey matter (GM) pathology in Multiple Sclerosis (MS). A quantitative assessment of complement involvement is lacking. Here we describe the use of Tissue MicroArray (TMA) methodology in conjunction with immunohistochemistry to investigate the localization of complement pathway proteins in progressive MS cortical GM and subcortical WM. Read More

    Autophagy in neurodegenerative diseases: pathogenesis and therapy.
    Brain Pathol 2018 Jan 6;28(1):3-13. Epub 2017 Aug 6.
    The Key Laboratory of Stem Cell Biology and Neurogenomic Laboratory, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences & Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
    The most prevalent pathological features of many neurodegenerative diseases are the aggregation of misfolded proteins and the loss of certain neuronal populations. Autophagy, as major intracellular machinery for degrading aggregated proteins and damaged organelles, has been reported to be involved in the occurrence of pathological changes in many neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, Huntington's disease and amyotrophic lateral sclerosis. In this review, we summarize most recent research progress in this topic and provide a new perspective regarding autophagy regulation on the pathogenesis of neurodegenerative diseases. Read More

    Understanding neurodevelopmental disorders using human pluripotent stem cell-derived neurons.
    Brain Pathol 2017 Jul;27(4):508-517
    Neuroscience and Mental Health Research Institute, School of Medicine and School of Biosciences, Cardiff University, Cardiff, United Kingdom.
    Research into psychiatric disorders has long been hindered by the lack of appropriate models. Induced pluripotent stem cells (iPSCs) offer an unlimited source of patient-specific cells, which in principle can be differentiated into all disease-relevant somatic cell types to create in vitro models of the disorder of interest. Here, neuronal differentiation protocols available for this purpose and the current progress on iPSCs-based models of schizophrenia, autism spectrum disorders and bipolar disorder were reviewed. Read More

    Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.
    Brain Pathol 2017 Jul;27(4):518-524
    MRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
    C9ORF72 repeat expansion is the most frequent causal genetic mutation giving rise to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD). The relatively recent discovery of the C9ORF72 repeat expansion in 2011 and the complexity of the mutation have meant that animal models that successfully recapitulate human C9ORF72 repeat expansion-mediated disease are only now emerging. Concurrent advances in the use of patient-derived induced pluripotent stem cells (iPSCs) to model aspects of neurological disease offers an additional approach for the study of C9ORF72 mutation. Read More

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