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Neuropathology and Applied Neurobiology

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https://www.readbyqxmd.com/read/28801956/evidence-of-er-stress-and-upr-activation-in-patients-with-brody-disease-and-brody-syndrome
#1
V Guglielmi, N C Voermans, A Oosterhof, D Nowis, B G van Engelen, G Tomelleri, G Vattemi
Brody disease (BD, OMIM #601003) is an inherited skeletal muscle disease clinically characterized by exercise-induced impairment of muscle relaxation and stiffness due to the delay in the Ca(2+) re-uptake in the sarcoplasmic reticulum (SR)[1, 2]. The delayed muscle relaxation mainly affects legs, harms, hands and eyelids and usually improves after a few minutes rest [1-3]. Patients frequently report myalgia, painless or mildly painful cramps whereas recurrent rhabdomyolysis have been described in a few cases [2, 3]...
August 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28793370/prevalence-of-tdp-43-proteinopathy-in-cognitively-normal-older-adults-systematic-review-and-meta-analysis
#2
Camila Nascimento, Ana Tereza Di Lorenzo Alho, Caroline Bazan Conceição Amaral, Renata Elane Paraizo Leite, Ricardo Nitrini, Wilson Jacob-Filho, Carlos Augusto Pasqualucci, Suvi Rosa Kastehelmi Hokkanen, Sally Hunter, Hannah Keage, Gabor G Kovacs, Lea Tenenholz Grinberg, Claudia Kimie Suemoto
OBJECTIVE: To perform a systematic review and meta-analysis on the prevalence of TDP-43 proteinopathy in cognitively normal older adults. METHODS: We systematically reviewed and performed a meta-analysis on the prevalence of TDP-43 proteinopathy in older adults with normal cognition, evaluated by the Mini-Mental State Examination or the Clinical Dementia Rating. We estimated the overall prevalence of TDP-43 using random-effect models, and stratified by age, sex, sample size, study quality, antibody used to assess TDP-43 aggregates, analyzed brain regions, Braak stage, CERAD score, hippocampal sclerosis, and geographic location...
August 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28792617/distinctive-cerebral-neuropathology-in-an-adult-case-of-sando-syndrome
#3
Daniel Kirschenbaum, Carola Hedberg-Oldfors, Anders Oldfors, Eduard Scherer, Herbert Budka
The syndrome of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO), defined genetically by mutations of the gene for the mitochondrial DNA polymerase-γ, POLG, was first described in 1997 (1). Since then, several case reports with various POLG, or more rarely PEO1, mutations have been published (2-4), some specifically addressing muscle and nerve pathology (1, 3), nerve electrophysiology (5), or radiological aspects (4, 6, 7). This article is protected by copyright. All rights reserved.
August 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28767130/tumor-associated-microglia-macrophages-predict-poor-prognosis-in-high-grade-gliomas-and-correlate-with-an-aggressive-tumor-subtype
#4
Mia D Sørensen, Rikke H Dahlrot, Henning B Boldt, Steinbjørn Hansen, Bjarne W Kristensen
AIMS: Glioblastomas are highly aggressive and treatment-resistant. Increasing evidence suggests that tumor-associated macrophages/microglia (TAMs) facilitate tumor progression by acquiring a M2-like phenotype. Our objective was to investigate the prognostic value of TAMs in gliomas using automated quantitative double immunofluorescence. METHODS: Samples from 240 patients with primary glioma were stained with antibodies against ionized calcium-binding adaptor molecule-1 (IBA-1) and CD204 to detect TAMs and M2-like TAMs...
August 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28755467/connexin-43-and-aquaporin-4-are-markers-of-artag-related-astroglial-response
#5
Gabor G Kovacs, Ahmed Yousef, Sabine Kaindl, Virginia M Lee, John Q Trojanowski
AIMS: Ageing-related tau astrogliopathy (ARTAG) appears in subependymal, subpial, perivascular, white matter (WM) and grey matter (GM) locations. Physical effects, blood-brain barrier dysfunction, blood- or vessel-related factors have been considered as aetiology. Since Connexin-43 (Cx43) and Aquaporin-4 (AQP4) are related to these, we hypothesized that their immunoreactivity varies with ARTAG in a location-specific manner. METHODS: We performed a morphometric immunohistochemical study measuring the densities of immunoreactivity (IR) of Cx43, AQP4, AT8 (phospho-tau), and glial fibrillar acidic protein (GFAP)...
July 29, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28696566/super-resolution-imaging-of-subcortical-white-matter-using-stochastic-optical-reconstruction-microscopy-storm-and-super-resolution-optical-fluctuation-imaging-sofi
#6
A H Hainsworth, S Lee, P Foot, A Patel, W W Poon, A E Knight
AIMS: The spatial resolution of light microscopy is limited by the wavelength of visible light (the 'diffraction limit', approximately 250 nm). Resolution of sub-cellular structures, smaller than this limit, is possible with super resolution methods such as stochastic optical reconstruction microscopy (STORM) and super-resolution optical fluctuation imaging (SOFI). We aimed to resolve subcellular structures (axons, myelin sheaths and astrocytic processes) within intact white matter, using STORM and SOFI...
July 11, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28664614/evolving-concepts-of-chronic-traumatic-encephalopathy-as-a-neuropathological-entity
#7
Helen Ling, James W Neal, Tamas Revesz
Chronic traumatic encephalopathy (CTE) is a long-term neurodegenerative consequence of repetitive head impacts which can only be definitively diagnosed in post-mortem. Recently, the consensus neuropathological criteria for the diagnosis of CTE was published requiring the presence of the accumulation of abnormal tau in neurons and astroglia distributed around small blood vessels at the depths of cortical sulci in an irregular pattern as the mandatory features. The clinical diagnosis and antemortem prediction of CTE pathology remain challenging if not impossible due to the common co-existing underlying neurodegenerative pathologies and the lack of specific clinical pointers and reliable biomarkers...
June 30, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28644906/cholinesterases-in-normal-and-alzheimer-s-disease-primary-olfactory-gyrus
#8
Hayam Hamodat, Meghan K Cash, John D Fisk, Sultan Darvesh
AIMS: Alzheimer's disease (AD) is characterized by cholinergic dysfunction and deposition of β-amyloid (Aβ) plaques and tau neurofibrillary tangles (NFTs) in the brain. Olfactory abnormalities often precede cognitive symptoms in AD, indicating early involvement of pathology in olfactory structures. The cholinergic system is important not only in cognition but also in modulation of the olfactory system. The primary olfactory gyrus (POG) is comprised of the olfactory tract, anterior olfactory nucleus (AON) and olfactory area (OA)...
June 23, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28637099/aggregation-and-phosphorylation-of-%C3%AE-synuclein-with-proteinase-k-resistance-in-focal-%C3%AE-synucleinopathy-predominantly-localized-to-the-cardiac-sympathetic-nervous-system
#9
Nei Fukasawa, Takahiro Fukuda, Masato Nagaoka, Tohru Harada, Hiroyuki Takahashi, Masahiro Ikegami
Aggregates of α-synuclein, a major component of Lewy bodies (LBs) and Lewy neurites (LNs), are distributed throughout the nervous system, including the central nervous system (CNS), sympathetic ganglia, enteric nervous system (ENS), cardiac and pelvic plexuses, submandibular gland, adrenal medulla and skin, in incidental Lewy body disease (ILBD), Parkinson's disease (PD), dementia with Lewy bodies (DLB), and pure autonomic failure (PAF) [1-3]. Here we report focal α-synucleinopathy predominantly localized to the cardiac sympathetic nervous system (SNS)...
June 21, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28627088/astrogliosis-and-impaired-aquaporin-4-and-dystrophin-systems-in-idiopathic-normal-pressure-hydrocephalus
#10
Per Kristian Eide, Hans-Arne Hansson
AIMS: Idiopathic normal pressure hydrocephalus (iNPH) is one subtype of dementia that may improve following drainage of cerebrospinal fluid (CSF). This prospective observational study explored whether expression of the water channel aquaporin-4 (AQP4) and the anchoring molecule dystrophin 71 (Dp71) are altered at astrocytic perivascular endfeet and in adjacent neuropil of iNPH patient. Observations were related to measurements of pulsatile and static intracranial pressure (ICP). METHODS: The study included iNPH patients undergoing overnight monitoring of the pulsatile/static ICP, in whom a biopsy was taken from the frontal cerebral cortex during placement of the ICP sensor...
June 19, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28626918/marinesco-bodies-and-substantia-nigra-neuron-density-in-parkinson-s-disease
#11
R D Abbott, J S Nelson, G W Ross, J H Uyehara-Lock, C M Tanner, K H Masaki, L J Launer, L R White, H Petrovitch
AIM: Marinesco bodies (MB) are intranuclear inclusions in pigmented neurons of the substantia nigra (SN). While rare in children, frequency increases with normal ageing and is high in Alzheimer's disease, dementia with Lewy bodies and other neurodegenerative disorders. Coinciding with the age-related rise in MB frequency is initiation of cell death among SN neurons. Whether MB have a role in this process is unknown. Our aim is to examine the association of MB with SN neuron density in Parkinson's disease (PD) in the Honolulu-Asia Aging Study...
June 19, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28603852/unusual-neuropathological-features-and-increased-brain-aluminium-in-a-resident-of-camelford-uk
#12
Andrew King, Claire Troakes, Miren Aizpurua, Ambreen Mirza, Angela Hodges, Safa Al-Sarraj, Christopher Exley
The possible role of aluminium in the pathogenesis of Alzheimer's disease (AD) has been hotly debated over the past few decades. Whereas the so-called "aluminium hypothesis" was popular in the 1970s and 1980s it has gradually fallen out of favour in the past few years possibly following a number of inconclusive and contradictory human environmental/clinical studies. Nevertheless, there have from time to time been reminders in the media of environmental accidents; these have prevented the topic from disappearing completely from public memory...
June 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28574618/effects-of-short-to-long-term-enzyme-replacement-therapy-ert-on-skeletal-muscle-tissue-in-late-onset-pompe-disease-lopd
#13
Michela Ripolone, Raffaella Violano, Dario Ronchi, Stefania Mondello, Annachiara Nascimbeni, Irene Colombo, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Valeria Lucchini, Simona Saredi, Massimiliano Filosto, Olimpia Musumeci, Paola Tonin, Tiziana Mongini, Stefano Previtali, Lucia Morandi, Corrado Angelini, Marina Mora, Marco Sandri, Monica Sciacco, Antonio Toscano, Giacomo P Comi, Maurizio Moggio
AIMS: Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fiber vacuolization and autophagy. Since 2006, ERT is the only approved treatment with human recombinant GAA alglucosidase alfa. We designed a study to examine ERT-related skeletal muscle changes in 18 modestly to moderately affected LOPD patients along with the relationship between morphological/biochemical changes and clinical outcomes...
June 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28574607/prognostic-value-of-mgmt-protein-expression-in-glioblastoma-excluding-non-tumour-cells-from-the-analysis
#14
Rikke H Dahlrot, Joseph Dowsett, Sigurd Fosmark, Annika Malmström, Roger Henriksson, Henning Boldt, Karin de Stricker, Mia D Sørensen, Hans S Poulsen, Malgorzata Lysiak, Peter Söderkvist, Johan Rosell, Steinbjørn Hansen, Bjarne W Kristensen
AIMS: It is important to predict response to treatment with temozolomide (TMZ) in glioblastoma (GBM) patients. Both MGMT protein expression and MGMT promoter methylation have been reported to predict the response to TMZ. We investigated the prognostic value of quantified MGMT protein levels in tumour cells and the prognostic importance of combining information of MGMT protein level and MGMT promoter methylations status. METHODS: MGMT protein expression was quantified in tumour cells in 171 GBMs from the population-based Region of Southern Denmark (RSD)-cohort using a double immunofluorescence approach...
June 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28543916/hcv-rna-genomic-sequences-and-hcv-e2-glycoprotein-in-sural-nerve-biopsies-from-hcv-infected-patients-with-peripheral-neuropathy
#15
Sabino Russi, Domenico Sansonno, Salvatore Monaco, Sara Mariotto, Sergio Ferrari, Fabio Pavone, Gianfranco Lauletta, Franco Dammacco
AIMS: Peripheral neuropathy (PN), the major neurological complication of chronic HCV infection, is frequently associated with mixed cryoglobulinemia (MC) and small-vessel systemic vasculitis. While humoral and cell-mediated immune mechanisms are suspected to act together in an aberrant immune response that results in peripheral nerve damage, the role of HCV remains largely speculative. The possible demonstration of HCV in peripheral nerve tissue would obviously assume important pathogenic implications...
May 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28543098/brain-endothelial-cell-expression-of-sparcl-1-is-specific-to-chronic-multiple-sclerosis-lesions-and-is-regulated-by-inflammatory-mediators-in-vitro
#16
C Bridel, M J A Koel-Simmelink, L Peferoen, C Derada Troletti, S Durieux, R Gorter, E Nutma, P Gami, E Iacobeus, L Brundin, J Kuhle, H Vrenken, J Killestein, S R Piersma, T V Pham, H E De Vries, S Amor, C R Jimenez, C E Teunissen
AIMS: Cell matrix modulating protein SPARCL-1 is highly expressed by astrocytes during CNS development and following acute CNS damage. Applying NanoLC-MS/MS to CSF of RRMS and SPMS patients, we identified SPARCL-1 as differentially expressed between these two stages of MS, suggesting a potential as CSF biomarker to differentiate RRMS from SPMS and a role in MS pathogenesis. METHODS: This study examines the potential of SPARCL-1 as CSF biomarker discriminating RRMS from SPMS in 3 independent cohorts (n=249), analyses its expression pattern in MS lesions (n= 26), and studies its regulation in cultured human brain microvasculature endothelial cells (BEC) after exposure to MS-relevant inflammatory mediators...
May 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28696011/in-this-issue
#17
(no author information available yet)
No abstract text is available yet for this article.
August 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28370398/tau-aggregates-where-when-why-and-what-consequences
#18
EDITORIAL
M P Frosch
No abstract text is available yet for this article.
August 2017: 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
#19
P G Ince, T Minett, G Forster, C Brayne, S B Wharton
INTRODUCTION: Microinfarcts, small ischaemic foci common in ageing brain, are associated with dementia and gait dysfunction. We determined their relationship with 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)...
August 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28039900/evidence-of-early-defects-in-cajal-retzius-cell-localization-during-brain-development-in-a-mouse-model-of-dystroglycanopathy
#20
H S Booler, V Pagalday-Vergara, J L Williams, M Hopkinson, S C Brown
AIMS: The secondary dystroglycanopathies represent a heterogeneous group of congenital muscular dystrophies characterized by the defective glycosylation of alpha dystroglycan. These disorders are associated with mutations in at least 17 genes, including Fukutin-related protein (FKRP). At the severe end of the clinical spectrum there is substantial brain involvement, and cobblestone lissencephaly is highly suggestive of these disorders. The precise pathogenesis of this phenotype has, however, remained unclear with most attention focused on the disruption to the radial glial scaffold...
June 2017: Neuropathology and Applied Neurobiology
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