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Acta Neuropathologica

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https://www.readbyqxmd.com/read/29909548/molecular-heterogeneity-and-cxorf67-alterations-in-posterior-fossa-group-a-pfa-ependymomas
#1
Kristian W Pajtler, Ji Wen, Martin Sill, Tong Lin, Wilda Orisme, Bo Tang, Jens-Martin Hübner, Vijay Ramaswamy, Sujuan Jia, James D Dalton, Kelly Haupfear, Hazel A Rogers, Chandanamali Punchihewa, Ryan Lee, John Easton, Gang Wu, Timothy A Ritzmann, Rebecca Chapman, Lukas Chavez, Fredrick A Boop, Paul Klimo, Noah D Sabin, Robert Ogg, Stephen C Mack, Brian D Freibaum, Hong Joo Kim, Hendrik Witt, David T W Jones, Baohan Vo, Amar Gajjar, Stan Pounds, Arzu Onar-Thomas, Martine F Roussel, Jinghui Zhang, J Paul Taylor, Thomas E Merchant, Richard Grundy, Ruth G Tatevossian, Michael D Taylor, Stefan M Pfister, Andrey Korshunov, Marcel Kool, David W Ellison
Of nine ependymoma molecular groups detected by DNA methylation profiling, the posterior fossa type A (PFA) is most prevalent. We used DNA methylation profiling to look for further molecular heterogeneity among 675 PFA ependymomas. Two major subgroups, PFA-1 and PFA-2, and nine minor subtypes were discovered. Transcriptome profiling suggested a distinct histogenesis for PFA-1 and PFA-2, but their clinical parameters were similar. In contrast, PFA subtypes differed with respect to age at diagnosis, gender ratio, outcome, and frequencies of genetic alterations...
June 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29881994/transcriptome-pathology-correlation-identifies-interplay-between-tdp-43-and-the-expression-of-its-kinase-ck1e-in-sporadic-als
#2
Florian Krach, Ranjan Batra, Emily C Wheeler, Anthony Q Vu, Ruth Wang, Kasey Hutt, Stuart J Rabin, Michael W Baughn, Ryan T Libby, Sandra Diaz-Garcia, Jennifer Stauffer, Elaine Pirie, Shahram Saberi, Maria Rodriguez, Assael A Madrigal, Zacharias Kohl, Beate Winner, Gene W Yeo, John Ravits
Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive. To identify molecular signatures of sALS we performed genome-wide expression profiling in laser capture microdissection-enriched surviving motor neurons (MNs) from lumbar spinal cords of sALS patients with rostral onset and caudal progression. After correcting for immunological background, we discover a highly specific gene expression signature for sALS that is associated with phosphorylated TDP-43 (pTDP-43) pathology...
June 7, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29881993/primary-intracranial-spindle-cell-sarcoma-with-rhabdomyosarcoma-like-features-share-a-highly-distinct-methylation-profile-and-dicer1-mutations
#3
Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M Tirado, Jaume Mora, Javier Alonso, Xavier Garcia Del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T W Jones, Andreas von Deimling
Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%)...
June 7, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29797112/interplay-among-gut-microbiota-intestinal-mucosal-barrier-and-enteric-neuro-immune-system-a-common-path-to-neurodegenerative-diseases
#4
REVIEW
Carolina Pellegrini, Luca Antonioli, Rocchina Colucci, Corrado Blandizzi, Matteo Fornai
Neurological diseases, such as Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis (ALS) and multiple sclerosis, are often associated with functional gastrointestinal disorders. These gastrointestinal disturbances may occur at all stages of the neurodegenerative diseases, to such an extent that they are now considered an integral part of their clinical picture. Several lines of evidence support the contention that, in central neurodegenerative diseases, changes in gut microbiota and enteric neuro-immune system alterations could contribute to gastrointesinal dysfunctions as well as initiation and upward spreading of the neurologic disorder...
May 24, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29785560/a-suggestion-to-introduce-the-diagnosis-of-diffuse-midline-glioma-of-the-pons-h3-k27-wildtype-who-grade-iv
#5
LETTER
André O von Bueren, Michael Karremann, Gerrit H Gielen, Martin Benesch, Maryam Fouladi, Dannis G van Vuurden, Sophie E M Veldhuijzen van Zanten, Lindsey M Hoffman, Christof M Kramm
No abstract text is available yet for this article.
May 21, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29770843/patterns-and-severity-of-vascular-amyloid-in-alzheimer-s-disease-associated-with-duplications-and-missense-mutations-in-app-gene-down-syndrome-and-sporadic-alzheimer-s-disease
#6
David M A Mann, Yvonne S Davidson, Andrew C Robinson, Nancy Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, Vee Prasher, Takeshi Iwatsubo, Andre Strydom
In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer's disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes...
May 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29767381/novel-fgfr2-ina-fusion-identified-in-two-low-grade-mixed-neuronal-glial-tumors-drives-oncogenesis-via-mapk-and-pi3k-mtor-pathway-activation
#7
LETTER
Payal Jain, Lea F Surrey, Joshua Straka, Minjie Luo, Fumin Lin, Brian Harding, Adam C Resnick, Phillip B Storm, Anna Maria Buccoliero, Mariarita Santi, Marilyn M Li, Angela J Waanders
No abstract text is available yet for this article.
May 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29766299/molecularly-defined-diffuse-leptomeningeal-glioneuronal-tumor-dlgnt-comprises-two-subgroups-with-distinct-clinical-and-genetic-features
#8
Maximilian Y Deng, Martin Sill, Jason Chiang, Jens Schittenhelm, Martin Ebinger, Martin U Schuhmann, Camelia-Maria Monoranu, Till Milde, Andrea Wittmann, Christian Hartmann, Clemens Sommer, Werner Paulus, Jutta Gärtner, Wolfgang Brück, Thomas Rüdiger, Alfred Leipold, Zane Jaunmuktane, Sebastian Brandner, Felice Giangaspero, Paolo Nozza, Jaume Mora, Andres Morales la Madrid, Ofelia Cruz Martinez, Jordan R Hansford, Torsten Pietsch, Anna Tietze, Pablo Hernáiz-Driever, Iris Stoler, David Capper, Andrey Korshunov, David W Ellison, Andreas von Deimling, Stefan M Pfister, Felix Sahm, David T W Jones
Diffuse leptomeningeal glioneuronal tumors (DLGNT) represent rare CNS neoplasms which have been included in the 2016 update of the WHO classification. The wide spectrum of histopathological and radiological features can make this enigmatic tumor entity difficult to diagnose. In recent years, large-scale genomic and epigenomic analyses have afforded insight into key genetic alterations occurring in multiple types of brain tumors and provide unbiased, complementary tools to improve diagnostic accuracy. Through genome-wide DNA methylation screening of > 25,000 tumors, we discovered a molecularly distinct class comprising 30 tumors, mostly diagnosed histologically as DLGNTs...
May 15, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29766298/k27-g34-versus-k28-g35-in-histone-h3-mutant-gliomas-a-note-of-caution
#9
LETTER
Henning Leske, Elisabeth Rushing, Herbert Budka, Pitt Niehusmann, Jens Pahnke, Ioannis Panagopoulos
No abstract text is available yet for this article.
May 15, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29754206/convective-influx-glymphatic-system-tracers-injected-into-the-csf-enter-and-leave-the-brain-along-separate-periarterial-basement-membrane-pathways
#10
Nazira J Albargothy, David A Johnston, Matthew MacGregor-Sharp, Roy O Weller, Ajay Verma, Cheryl A Hawkes, Roxana O Carare
Tracers injected into CSF pass into the brain alongside arteries and out again. This has been recently termed the "glymphatic system" that proposes tracers enter the brain along periarterial "spaces" and leave the brain along the walls of veins. The object of the present study is to test the hypothesis that: (1) tracers from the CSF enter the cerebral cortex along pial-glial basement membranes as there are no perivascular "spaces" around cortical arteries, (2) tracers leave the brain along smooth muscle cell basement membranes that form the Intramural Peri-Arterial Drainage (IPAD) pathways for the elimination of interstitial fluid and solutes from the brain...
May 12, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29752552/collagen-vi-is-required-for-the-structural-and-functional-integrity-of-the-neuromuscular-junction
#11
Matilde Cescon, Ilaria Gregorio, Nane Eiber, Doriana Borgia, Aurora Fusto, Patrizia Sabatelli, Michele Scorzeto, Aram Megighian, Elena Pegoraro, Said Hashemolhosseini, Paolo Bonaldo
The synaptic cleft of the neuromuscular junction (NMJ) consists of a highly specialized extracellular matrix (ECM) involved in synapse maturation, in the juxtaposition of pre- to post-synaptic areas, and in ensuring proper synaptic transmission. Key components of synaptic ECM, such as collagen IV, perlecan and biglycan, are binding partners of one of the most abundant ECM protein of skeletal muscle, collagen VI (ColVI), previously never linked to NMJ. Here, we demonstrate that ColVI is itself a component of this specialized ECM and that it is required for the structural and functional integrity of NMJs...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29752551/tau-seeding-activity-begins-in-the-transentorhinal-entorhinal-regions-and-anticipates-phospho-tau-pathology-in-alzheimer-s-disease-and-part
#12
Sarah K Kaufman, Kelly Del Tredici, Talitha L Thomas, Heiko Braak, Marc I Diamond
Alzheimer's disease (AD) is characterized by accumulation of tau neurofibrillary tangles (NFTs) and, according to the prion model, transcellular propagation of pathological "seeds" may underlie its progression. Staging of NFT pathology with phospho-tau antibody is useful to classify AD and primary age-related tauopathy (PART) cases. The locus coeruleus (LC) shows the earliest phospho-tau signal, whereas other studies suggest that pathology begins in the transentorhinal/entorhinal cortices (TRE/EC)...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29752550/aging-alters-the-immunological-response-to-ischemic-stroke
#13
Rodney M Ritzel, Yun-Ju Lai, Joshua D Crapser, Anita R Patel, Anna Schrecengost, Jeremy M Grenier, Nickolas S Mancini, Anthony Patrizz, Evan R Jellison, Diego Morales-Scheihing, Venugopal R Venna, Julia K Kofler, Fudong Liu, Rajkumar Verma, Louise D McCullough
The peripheral immune system plays a critical role in aging and in the response to brain injury. Emerging data suggest inflammatory responses are exacerbated in older animals following ischemic stroke; however, our understanding of these age-related changes is poor. In this work, we demonstrate marked differences in the composition of circulating and infiltrating leukocytes recruited to the ischemic brain of old male mice after stroke compared to young male mice. Blood neutrophilia and neutrophil invasion into the brain were increased in aged animals...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29748901/gadolinium-based-contrast-agents-induce-gadolinium-deposits-in-cerebral-vessel-walls-while-the-neuropil-is-not-affected-an-autopsy-study
#14
Stefanie Fingerhut, Michael Sperling, Markus Holling, Thomas Niederstadt, Thomas Allkemper, Alexander Radbruch, Walter Heindel, Werner Paulus, Astrid Jeibmann, Uwe Karst
Recent studies showed gadolinium depositions following serial administrations of gadolinium-based contrast agents (GBCAs) for magnetic resonance imaging examinations in various parts of the brain with the dentate nucleus (DN) being most affected. Even though no clinical correlates of the deposits are known yet, an intensive debate developed if this might be harmful. The aim of the current study was to specify the gadolinium distribution in brain tissue of patients who received serial injections of GBCAs in the low-µm range and to explore any potential pathological tissue changes caused by gadolinium deposits...
May 10, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29744576/the-lysosomal-function-of-progranulin-a-guardian-against-neurodegeneration
#15
REVIEW
Daniel H Paushter, Huan Du, Tuancheng Feng, Fenghua Hu
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor implicated in a multitude of processes ranging from regulation of inflammation to wound healing and tumorigenesis. The clinical importance of PGRN became especially evident in 2006, when heterozygous mutations in the GRN gene, resulting in haploinsufficiency, were found to be one of the main causes of frontotemporal lobar degeneration (FTLD). FTLD is a clinically heterogenous disease that results in the progressive atrophy of the frontal and temporal lobes of the brain...
May 9, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29730775/dna-methylation-based-reclassification-of-olfactory-neuroblastoma
#16
David Capper, Nils W Engel, Damian Stichel, Matt Lechner, Stefanie Glöss, Simone Schmid, Christian Koelsche, Daniel Schrimpf, Judith Niesen, Annika K Wefers, David T W Jones, Martin Sill, Oliver Weigert, Keith L Ligon, Adriana Olar, Arend Koch, Martin Forster, Sebastian Moran, Oscar M Tirado, Miguel Sáinz-Japeado, Jaume Mora, Manel Esteller, Javier Alonso, Xavier Garcia Del Muro, Werner Paulus, Jörg Felsberg, Guido Reifenberger, Markus Glatzel, Stephan Frank, Camelia M Monoranu, Valerie J Lund, Andreas von Deimling, Stefan Pfister, Rolf Buslei, Julika Ribbat-Idel, Sven Perner, Volker Gudziol, Matthias Meinhardt, Ulrich Schüller
Olfactory neuroblastoma/esthesioneuroblastoma (ONB) is an uncommon neuroectodermal neoplasm thought to arise from the olfactory epithelium. Little is known about its molecular pathogenesis. For this study, a retrospective cohort of n = 66 tumor samples with the institutional diagnosis of ONB was analyzed by immunohistochemistry, genome-wide DNA methylation profiling, copy number analysis, and in a subset, next-generation panel sequencing of 560 tumor-associated genes. DNA methylation profiles were compared to those of relevant differential diagnoses of ONB...
May 5, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29725821/the-relationship-between-neurosurgical-instruments-and-disease-transmission-society-of-british-neurological-surgeons-perspective
#17
LETTER
Peter J A Hutchinson, Barrie White, Adel Helmy, John Thorne, Alistair Jenkins, Richard Kerr, Neil Kitchen, Paul May
No abstract text is available yet for this article.
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29725820/cadasil-brain-vessels-show-a-htra1-loss-of-function-profile
#18
Andreas Zellner, Eva Scharrer, Thomas Arzberger, Chio Oka, Valérie Domenga-Denier, Anne Joutel, Stefan F Lichtenthaler, Stephan A Müller, Martin Dichgans, Christof Haffner
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanisms of cerebral small vessel disease (SVD). CADASIL, the most frequent and intensely explored monogenic SVD, is characterized by a severe pathology in the cerebral vasculature including the mutation-induced aggregation of the Notch3 extracellular domain (Notch3ECD ) and the formation of protein deposits of insufficiently determined composition in vessel walls...
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29725819/senataxin-mutations-elicit-motor-neuron-degeneration-phenotypes-and-yield-tdp-43-mislocalization-in-als4-mice-and-human-patients
#19
Craig L Bennett, Somasish G Dastidar, Shuo-Chien Ling, Bilal Malik, Travis Ashe, Mandheer Wadhwa, Derek B Miller, Changwoo Lee, Matthew B Mitchell, Michael A van Es, Christopher Grunseich, Yingzhang Chen, Bryce L Sopher, Linda Greensmith, Don W Cleveland, Albert R La Spada
Amyotrophic lateral sclerosis type 4 (ALS4) is a rare, early-onset, autosomal dominant form of ALS, characterized by slow disease progression and sparing of respiratory musculature. Dominant, gain-of-function mutations in the senataxin gene (SETX) cause ALS4, but the mechanistic basis for motor neuron toxicity is unknown. SETX is a RNA-binding protein with a highly conserved helicase domain, but does not possess a low-complexity domain, making it unique among ALS-linked disease proteins. We derived ALS4 mouse models by expressing two different senataxin gene mutations (R2136H and L389S) via transgenesis and knock-in gene targeting...
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29705908/somatic-mutations-in-neurons-during-aging-and-neurodegeneration
#20
REVIEW
Bert M Verheijen, Marc Vermulst, Fred W van Leeuwen
The nervous system is composed of a large variety of neurons with a diverse array of morphological and functional properties. This heterogeneity is essential for the construction and maintenance of a distinct set of neural networks with unique characteristics. Accumulating evidence now indicates that neurons do not only differ at a functional level, but also at the genomic level. These genomic discrepancies seem to be the result of somatic mutations that emerge in nervous tissue during development and aging...
April 28, 2018: Acta Neuropathologica
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