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Neuropathology and Applied Neurobiology

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https://www.readbyqxmd.com/read/27886392/deregulated-expression-of-ezh2-in-congenital-brainstem-disconnection
#1
P G Barth, E Aronica, S Fox, K Fluiter, M A J Weterman, A Poretti, D C Miller, E Boltshauser, B Harding, M Santi, F Baas
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and the cerebellum is globally hypoplastic. A recent update and review[1] lists 14 cases, including 3 brain autopsy studies[1-3]. Necrosis and glial- or inflammatory reactions were absent. Inferior olivary nuclei were small or absent, pontine nuclei depleted, and the cerebellar dentate nuclei dysplastic...
November 25, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27859539/clinicopathologic-heterogeneity-in-ftdp-17-due-to-mapt-p-p301l-mutation-including-a-patient-with-globular-glial-tauopathy
#2
Pawel Tacik, Monica Sanchez-Contreras, Michael DeTure, Melissa E Murray, Rosa Rademakers, Owen A Ross, Zbigniew K Wszolek, Joseph E Parisi, David S Knopman, Ronald C Petersen, Dennis W Dickson
AIM: The p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to p.P301L mutation. METHODS: Genealogical, clinical, neuropathologic, and genetic data were reviewed from eight individuals RESULTS: The series consisted of five men and three women with an average age of death of 58 years (52-65 years) and average disease duration of 9 years (3-14 years)...
November 8, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27783888/association-of-cortical-microinfarcts-and-cerebral-small-vessel-pathology-in-the-ageing-brain
#3
Enikö Kövari, François R Herrmann, Gabriel Gold, Patrick R Hof, Andreas Charidimou
AIMS: Cortical microinfarcts (CMI) are frequently observed in the ageing brain independent of cognitive decline, but their etiology is not fully elucidated. To examine the potential role of different vessel pathologies, including cerebral amyloid angiopathy (CAA), arteriolosclerosis-hyalinosis, and thromboembolism in the development of CMI, we examined 80 autopsy cases with more than one CMI on routine neuropathological examination. METHODS: Pial and intracortical vessels around CMI were assessed for their integrity with hematoxylin-eosin staining and antibodies against amyloid-β protein and fibrinogen using a semiquantitative 4-level rating scale (absent to severe) in the hippocampus, and the frontal, temporal, and occipital cortex...
October 26, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27732747/meningeal-smarcb1-deficient-tumors-an-emerging-group-of-meningeal-tumors
#4
Bérengère Dadone, Denys Fontaine, Lydiane Mondot, Gaël Cristofari, Anne Jouvet, Catherine Godfraind, Pascale Varlet, Dominique Ranchère-Vince, Jean-Michel Coindre, Lauris Gastaud, Christian Baudoin, Annie-Claude Peyron, Antoine Thyss, Michael Coutts, Jean-François Michiels, Florence Pedeutour, Fanny Burel-Vandenbos
AIMS: Bi-allelic inactivation of SMARCB1 (also known as INI1) and loss of immunohistochemical expression of SMARCB1 defines the group of SMARCB1-deficient tumors. Initially highlighted in malignant rhabdoid tumors, this inactivation has subsequently been observed in several intra and extracranial tumors. To date, primary meningeal SMARCB1-deficient tumors have not been described. We report two cases of meningeal SMARCB1-deficient tumors occurring in adults. METHODS: We performed immunohistochemical analyses, comparative genomic hybridization, fluorescence in situ hybridization and targeted next generation sequencing...
October 12, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27543695/systems-proteomic-analysis-reveals-that-clusterin-and-tissue-inhibitor-of-metalloproteinases-3-increase-in-leptomeningeal-arteries-affected-by-cerebral-amyloid-angiopathy
#5
A Manousopoulou, M Gatherer, C Smith, J A R Nicoll, C H Woelk, M Johnson, R Kalaria, J Attems, S D Garbis, R O Carare
AIMS: Amyloid beta (Aβ) accumulation in the walls of leptomeningeal arteries as cerebral amyloid angiopathy (CAA) is a major feature of Alzheimer's disease. In this study, we used global quantitative proteomic analysis to examine the hypothesis that the leptomeningeal arteries derived from patients with CAA have a distinct endophenotypic profile compared to those from young and elderly controls. METHODS: Freshly dissected leptomeningeal arteries from the Newcastle Brain Tissue Resource and Edinburgh Sudden Death Brain Bank from seven elderly (82...
October 5, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27664944/microinfarcts-in-an-older-population-representative-brain-donor-cohort-mrc-cfas-prevalence-relation-to-dementia-and-mobility-and-implications-for-the-evaluation-of-cerebral-small-vessel-disease
#6
Paul G Ince, Thais Minett, Gill Forster, Carol Brayne, Stephen B Wharton
INTRODUCTION: Microinfarcts, small ischaemic foci common in ageing brain, are associated with dementia and gait dysfunction. We determined their relationship to dementia, mobility and cerebrovascular disease in an older population-representative brain donor cohort. These data on microinfarcts were evaluated in relation to pathological assessments of clinically significant cerebral small vessel disease (SVD). METHODS: Microinfarcts were assessed in the MRC Cognitive Function and Ageing Study (n=331)...
September 24, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27716988/progression-of-alpha-synuclein-pathology-in-multiple-system-atrophy-of-the-cerebellar-type
#7
Johannes Brettschneider, David J Irwin, Susana Boluda, Matthew D Byrne, Lubin Fang, Edward B Lee, John L Robinson, EunRan Suh, Vivianna M Van Deerlin, Jon B Toledo, Murray Grossman, Howard Hurtig, Reinhard Dengler, Susanne Petri, Virginia M-Y Lee, John Q Trojanowski
AIMS: To identify early foci of α-synuclein (α-syn pathology) accumulation, subsequent progression and neurodegeneration in multiple system atrophy of the cerebellar type (MSA-C). METHODS: We analyzed 70 μm thick sections of 10 cases with MSA-C and 24 normal controls. RESULTS: MSA-C cases with the lowest burden of pathology showed α-syn glial cytoplasmic inclusions (GCIs) in the cerebellum as well as in medullary and pontine cerebellar projections...
September 22, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27627784/free-of-acrylamide-sds-based-tissue-clearing-fastclear-a-novel-protocol-of-tissue-clearing-for-three-dimensional-visualisation-of-human-brain-tissues
#8
Alan King Lun Liu, Hei Ming Lai, Raymond Chuen-Chung Chang, Steve M Gentleman
In recent years, advances in laser microscopy and endogenous fluorescent tagging techniques has led to the development of many tissue clearing strategies, which render tissues optically transparent, allowing large blocks of un-sectioned tissue to be visualised in three-dimensions (3D). CLARITY (Clear Lipid-exchanged Acrylamide-hybridized Rigid Imaging/Immunostaining/In situ hybridization-compatible Tissue-hYdrogel) is one of the tissue clearing techniques which works by fixation/hybridisation of brain tissue using hydrogel crosslinks and subsequent detergent-based delipidation to turn the tissue transparent [1]...
September 14, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27891697/in-this-issue
#9
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27424496/human-adult-neurogenesis-across-the-ages-an-immunohistochemical-study
#10
C V Dennis, L S Suh, M L Rodriguez, J J Kril, G T Sutherland
AIMS: Neurogenesis in the postnatal human brain occurs in two neurogenic niches; the subventricular zone (SVZ) in the wall of the lateral ventricles and the subgranular zone (SGZ) of the hippocampus. The extent to which this physiological process continues into adulthood is an area of ongoing research. This study aimed to characterize markers of cell proliferation and assess the efficacy of antibodies used to identify neurogenesis in both neurogenic niches of the human brain. METHODS: Cell proliferation and neurogenesis were simultaneously examined in the SVZ and SGZ of 23 individuals aged 0...
December 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27683244/in-this-issue
#11
(no author information available yet)
No abstract text is available yet for this article.
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27291591/review-induced-pluripotent-stem-cell-models-of-frontotemporal-dementia
#12
REVIEW
E Preza, J Hardy, T Warner, S Wray
The increasing prevalence of dementia in the ageing population combined with the lack of treatments and the burden on national health care systems globally make dementia a public health priority. Despite the plethora of important research findings published over the past two decades, the mechanisms underlying dementia are still poorly understood and the progress in pharmacological interventions is limited. Recent advances in cellular reprogramming and genome engineering technologies offer an unprecedented new paradigm in disease modeling...
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26859760/protein-regulation-of-induced-pluripotent-stem-cells-by-transplanting-in-a-huntington-s-animal-model
#13
S Mu, L Han, G Zhou, C Mo, J Duan, Z He, Z Wang, L Ren, J Zhang
AIMS: The purpose of this study was to determine the functional recovery and protein regulation by transplanted induced pluripotent stem cells in a rat model of Huntington's disease (HD). METHODS: In a quinolinic acid-induced rat model of striatal degeneration, induced pluripotent stem cells were transplanted into the ipsilateral lateral ventricle 10 days after the quinolinic acid injection. At 8 weeks after transplantation, fluorodeoxyglucose-PET/CT scan and balance-beam test were performed to evaluate the functional recovery of experimental rats...
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26819002/axonal-tdp-43-aggregates-in-sporadic-amyotrophic-lateral-sclerosis
#14
T Onozato, A Nakahara, E Suzuki-Kouyama, A Hineno, T Yasude, T Nakamura, H Yahikozawa, M Watanabe, K Kayanuma, H Makishita, S Ohara, T Hashimoto, K Higuchi, T Sakai, K Asano, T Hashimoto, H Kanno, J Nakayama, K Oyanagi
AIMS: Axonal aggregates of phosphorylated (p-) transactive response DNA-binding protein 43 kDa (TDP-43) in sporadic amyotrophic lateral sclerosis (sALS) were examined in relation to propagation of the protein in the nervous system. METHODS: Brains and spinal cords of Japanese patients with sALS and control subjects were examined immunohistochemically using formalin-fixed paraffin-embedded specimens with special reference to the topographical distribution, microscopic features, presynaptic aggregates, and correlation between the aggregates in axons and the clinical course...
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26526972/bringing-clarity-to-the-human-brain-visualization-of-lewy-pathology-in-three-dimensions
#15
A K L Liu, M E D Hurry, O T W Ng, J DeFelice, H M Lai, R K B Pearce, G T-C Wong, R C-C Chang, S M Gentleman
AIMS: CLARITY is a novel technique which enables three-dimensional visualization of immunostained tissue for the study of circuitry and spatial interactions between cells and molecules in the brain. In this study, we aimed to compare methodological differences in the application of CLARITY between rodent and large human post mortem brain samples. In addition, we aimed to investigate if this technique could be used to visualize Lewy pathology in a post mortem Parkinson's brain. METHODS: Rodent and human brain samples were clarified and immunostained using the passive version of the CLARITY technique...
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26373857/evidence-for-altered-cholesterol-metabolism-in-huntington-s-disease-post-mortem-brain-tissue
#16
Fabian Kreilaus, Adena S Spiro, Catriona A McLean, Brett Garner, Andrew M Jenner
AIMS: Cholesterol plays an essential role in membrane structure and function, being especially important in the brain. Alteration of brain cholesterol synthesis and metabolism has been demonstrated in several Huntington's disease (HD) mouse and cell models; however, less is known about these alterations in human tissue. This study aimed to identify alterations to cholesterol synthetic and metabolic pathways in human HD brain tissue. METHODS: A broad range of cholesterol synthetic precursors, metabolites and oxidation products were measured by gas chromatography-tandem mass spectrometry in five regions of human post mortem HD brain and compared with age- and sex-matched control tissues...
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26373655/prevalence-of-brain-and-spinal-cord-inclusions-including-dipeptide-repeat-proteins-in-patients-with-the-c9orf72-hexanucleotide-repeat-expansion-a-systematic-neuropathological-review
#17
L J Schipper, J Raaphorst, E Aronica, F Baas, R de Haan, M de Visser, D Troost
AIM: The current literature shows no consensus on the localization and number of characteristic neuronal inclusions [p62 and dipeptide repeat proteins (DRPs) positive, TDP-43-negative and TDP-43 positive] in the brain and spinal cord of patients with the hexanucleotide repeat expansion on chromosome 9 (C9ORF72-positive patients). This may be due to small sample sizes. A valid brain map of the inclusions in C9ORF72-positive patients may improve clinicopathological correlations and may serve as a reference for neuropathologists...
October 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27566437/metastatic-renal-cell-carcinoma-metastasising-into-a-cerebral-cavernous-malformation
#18
Jonathan Shapey, Rahul Phadke, Neil Kitchen
Metastatic spread of extracranial systemic cancers to cerebral cavernous malformations (CCM) is extremely rare. We report the first case of metastatic renal cell carcinoma found within a CCM and provide a brief review of the available literature. This article is protected by copyright. All rights reserved.
August 27, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27543917/brain-iron-accumulation-in-wilson-disease-a-post-mortem-7-tesla-mri-histopathological-study
#19
P Dusek, E Bahn, T Litwin, K Jabłonka-Salach, A Łuciuk, T Huelnhagen, V I Madai, M A Dieringer, E Bulska, M Knauth, T Niendorf, J Sobesky, F Paul, S A Schneider, A Czlonkowska, W Brück, C Wegner, J Wuerfel
AIMS: In Wilson disease (WD), T2/T2*-weighted (T2*w) MRI frequently shows hypointensity in the basal ganglia that is suggestive of paramagnetic deposits. It is currently unknown whether this hypointensity is related to copper or iron deposition. We examined the neuropathological correlates of this MRI pattern, particularly in relation to iron and copper concentrations. METHODS: Brain slices from nine WD and six control cases were investigated using a 7T-MRI system...
August 20, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27490935/conjoint-ftld-fus-of-the-neuronal-intermediate-filament-inclusion-disease-type-progressive-supranuclear-palsy-and-alzheimer-s-pathology-presenting-as-parkinsonism-with-early-falls-and-late-hallucinations-psychosis-and-dementia
#20
Yaroslau Compta, Oscar Ramos-Campoy, Oriol Grau-Rivera, Martí Colom-Cadena, Jordi Clarimón, María José Martí, Ellen Gelpi
Progressive supranuclear palsy (PSP) is a low-prevalence atypical parkinsonism with underlying 4R-tauopathy and a growing number of clinical phenotypes, making its differential diagnosis from other conditions such as Parkinson's disease (PD) and corticobasal degeneration particularly challenging (1,2). Neuronal intermediate filament inclusion disease (NIFID), a sporadic alpha-internexin and fused-in-sarcoma (FUS) proteinopathy, is an even rarer condition with few cases published worldwide. It is most often diagnosed at autopsy, again due to a remarkable clinical heterogeneity ranging from young-onset frontotemporal dementia to PSP-lookalike parkinsonism, among other phenotypes (3-6)...
August 4, 2016: Neuropathology and Applied Neurobiology
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