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Acta Neuropathologica Communications

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https://www.readbyqxmd.com/read/28709447/cryptic-amyloidogenic-elements-in-mutant-nefh-causing-charcot-marie-tooth-2-trigger-aggresome-formation-and-neuronal-death
#1
Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients...
July 14, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28666471/heterogeneous-ribonuclear-protein-e2-hnrnp-e2-is-associated-with-tdp-43-immunoreactive-neurites-in-semantic-dementia-but-not-with-other-tdp-43-pathological-subtypes-of-frontotemporal-lobar-degeneration
#2
Yvonne S Davidson, Andrew C Robinson, Louis Flood, Sara Rollinson, Bridget C Benson, Yasmine T Asi, Anna Richardson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, Tammaryn Lashley, David M A Mann
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter personality and cognition. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may underpin the pathogenesis of FTLD. Immunostaining for hnRNP E2 was performed on sections of frontal and temporal cortex with hippocampus from 80 patients with FTLD, stratified by pathology into FTLD-tau and FTLD-TDP type A, B and C subtypes, and by genetics into patients with C9orf72 expansions, MAPT or GRN mutations, or those with no known mutation, and on 10 healthy controls...
June 30, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28659169/the-novel-compound-pbt434-prevents-iron-mediated-neurodegeneration-and-alpha-synuclein-toxicity-in-multiple-models-of-parkinson-s-disease
#3
David I Finkelstein, Jessica L Billings, Paul A Adlard, Scott Ayton, Amelia Sedjahtera, Colin L Masters, Simon Wilkins, David M Shackleford, Susan A Charman, Wojciech Bal, Izabela A Zawisza, Ewa Kurowska, Andrew L Gundlach, Sheri Ma, Ashley I Bush, Dominic J Hare, Philip A Doble, Simon Crawford, Elisabeth Cl Gautier, Jack Parsons, Penny Huggins, Kevin J Barnham, Robert A Cherny
Elevated iron in the SNpc may play a key role in Parkinson's disease (PD) neurodegeneration since drug candidates with high iron affinity rescue PD animal models, and one candidate, deferirpone, has shown efficacy recently in a phase two clinical trial. However, strong iron chelators may perturb essential iron metabolism, and it is not yet known whether the damage associated with iron is mediated by a tightly bound (eg ferritin) or lower-affinity, labile, iron pool. Here we report the preclinical characterization of PBT434, a novel quinazolinone compound bearing a moderate affinity metal-binding motif, which is in development for Parkinsonian conditions...
June 28, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28646899/immunoproteasome-deficiency-alters-microglial-cytokine-response-and-improves-cognitive-deficits-in-alzheimer-s-disease-like-appps1-mice
#4
Lisa K Wagner, Kate E Gilling, Eileen Schormann, Peter M Kloetzel, Frank L Heppner, Elke Krüger, Stefan Prokop
The immunoproteasome (iP) represents a specialized type of proteasomes, which plays an important role in the clearance of oxidant-damaged proteins under inflammatory and pathological conditions determining the outcome of various diseases. In Alzheimer's disease (AD)-like APPPS1 mice Aβ-deposition is paralleled by iP upregulation, most likely mediated through type I interferon induction. To define the impact of increased iP expression we crossed APPPS1 mice with mice deficient in the iP subunit LMP7 resulting in impaired iP function...
June 24, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28645311/zika-virus-tropism-and-interactions-in-myelinating-neural-cell-cultures-cns-cells-and-myelin-are-preferentially-affected
#5
Stephanie L Cumberworth, Jennifer A Barrie, Madeleine E Cunningham, Daniely Paulino Gomes de Figueiredo, Verena Schultz, Adrian J Wilder-Smith, Benjamin Brennan, Lindomar J Pena, Rafael Freitas de Oliveira França, Christopher Linington, Susan C Barnett, Hugh J Willison, Alain Kohl, Julia M Edgar
The recent global outbreak of Zika virus (ZIKV) infection has been linked to severe neurological disorders affecting the peripheral and central nervous systems (PNS and CNS, respectively). The pathobiology underlying these diverse clinical phenotypes are the subject of intense research; however, even the principal neural cell types vulnerable to productive Zika infection remain poorly characterised. Here we used CNS and PNS myelinating cultures from wild type and Ifnar1 knockout mice to examine neuronal and glial tropism and short-term consequences of direct infection with a Brazilian variant of ZIKV...
June 23, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28645308/neonatal-aav-delivery-of-alpha-synuclein-induces-pathology-in-the-adult-mouse-brain
#6
Marion Delenclos, Ayman H Faroqi, Mei Yue, Aishe Kurti, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W Dickson, John D Fryer, Pamela J McLean
Abnormal accumulation of alpha-synuclein (αsyn) is a pathological hallmark of Lewy body related disorders such as Parkinson's disease and Dementia with Lewy body disease. During the past two decades, a myriad of animal models have been developed to mimic pathological features of synucleinopathies by over-expressing human αsyn. Although different strategies have been used, most models have little or no reliable and predictive phenotype. Novel animal models are a valuable tool for understanding neuronal pathology and to facilitate development of new therapeutics for these diseases...
June 23, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28637503/expression-of-endogenous-mouse-app-modulates-%C3%AE-amyloid-deposition-in-happ-transgenic-mice
#7
Johannes Steffen, Markus Krohn, Christina Schwitlick, Thomas Brüning, Kristin Paarmann, Claus U Pietrzik, Henrik Biverstål, Baiba Jansone, Oliver Langer, Jens Pahnke
Amyloid-β (Aβ) deposition is one of the hallmarks of the amyloid hypothesis in Alzheimer's disease (AD). Mouse models using APP-transgene overexpression to generate amyloid plaques have shown to model only certain parts of the disease. The extent to which the data from mice can be transferred to man remains controversial. Several studies have shown convincing treatment results in reducing Aβ and enhancing cognition in mice but failed totally in human. One model-dependent factor has so far been almost completely neglected: the endogenous expression of mouse APP and its effects on the transgenic models and the readout for therapeutic approaches...
June 20, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28619074/novel-oligodendroglial-alpha-synuclein-viral-vector-models-of-multiple-system-atrophy-studies-in-rodents-and-nonhuman-primates
#8
Ronald J Mandel, David J Marmion, Deniz Kirik, Yaping Chu, Clifford Heindel, Thomas McCown, Steven J Gray, Jeffrey H Kordower
Multiple system atrophy (MSA) is a horrible and unrelenting neurodegenerative disorder with an uncertain etiology and pathophysiology. MSA is a unique proteinopathy in which alpha-synuclein (α-syn) accumulates preferentially in oligodendroglia rather than neurons. Glial cytoplasmic inclusions (GCIs) of α-syn are thought to elicit changes in oligodendrocyte function, such as reduced neurotrophic support and demyelination, leading to neurodegeneration. To date, only a murine model using one of three promoters exist to study this disease...
June 16, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28619113/mechanisms-underlying-extensive-ser129-phosphorylation-in-%C3%AE-synuclein-aggregates
#9
Shigeki Arawaka, Hiroyasu Sato, Asuka Sasaki, Shingo Koyama, Takeo Kato
Parkinson's disease (PD) is characterized neuropathologically by intracellular aggregates of fibrillar α-synuclein, termed Lewy bodies (LBs). Approximately 90% of α-synuclein deposited as LBs is phosphorylated at Ser129 in brains with PD. In contrast, only 4% of total α-synuclein is phosphorylated at Ser129 in brains with normal individuals. It is unclear why extensive phosphorylation occurs in the pathological process of PD. To address this issue, we investigated a mechanism and role of Ser129-phosphorylation in regulating accumulation of α-synuclein...
June 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28599681/brain-derived-exosomes-from-dementia-with-lewy-bodies-propagate-%C3%AE-synuclein-pathology
#10
Jennifer Ngolab, Ivy Trinh, Edward Rockenstein, Michael Mante, Jazmin Florio, Margarita Trejo, Deborah Masliah, Anthony Adame, Eliezer Masliah, Robert A Rissman
Proteins implicated in neurodegenerative conditions such as Alzheimer's disease (AD) and Dementia with Lewy Bodies (DLB) have been identified in bodily fluids encased in extracellular vesicles called exosomes. Whether exosomes found in DLB patients can transmit pathology is not clear. In this study, exosomes were successfully harvested through ultracentrifugation from brain tissue from DLB and AD patients as well as non-diseased brain tissue. Exosomes extracted from brains diagnosed with either AD or DLB contained aggregate-prone proteins...
June 9, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28595629/identification-and-description-of-three-families-with-familial-alzheimer-disease-that-segregate-variants-in-the-sorl1-gene
#11
Håkan Thonberg, Huei-Hsin Chiang, Lena Lilius, Charlotte Forsell, Anna-Karin Lindström, Charlotte Johansson, Jenny Björkström, Steinunn Thordardottir, Kristel Sleegers, Christine Van Broeckhoven, Annica Rönnbäck, Caroline Graff
Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative...
June 9, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28587664/characterization-of-tau-prion-seeding-activity-and-strains-from-formaldehyde-fixed-tissue
#12
Sarah K Kaufman, Talitha L Thomas, Kelly Del Tredici, Heiko Braak, Marc I Diamond
Tauopathies such as Alzheimer's disease (AD) feature progressive intraneuronal deposition of aggregated tau protein. The cause is unknown, but in experimental systems trans-cellular propagation of tau pathology resembles prion pathogenesis. Tau aggregate inoculation into mice produces transmissible pathology, and tau forms distinct strains, i.e. conformers that faithfully replicate and create predictable patterns of pathology in vivo. The prion model predicts that tau seed formation will anticipate neurofibrillary tau pathology...
June 7, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28587682/plgf-a-placental-marker-of-fetal-brain-defects-after-in-utero-alcohol-exposure
#13
Matthieu Lecuyer, Annie Laquerrière, Soumeya Bekri, Céline Lesueur, Yasmina Ramdani, Sylvie Jégou, Arnaud Uguen, Pascale Marcorelles, Stéphane Marret, Bruno J Gonzalez
Most children with in utero alcohol exposure do not exhibit all features of fetal alcohol syndrome (FAS), and a challenge for clinicians is to make an early diagnosis of fetal alcohol spectrum disorders (FASD) to avoid lost opportunities for care. In brain, correct neurodevelopment requires proper angiogenesis. Since alcohol alters brain angiogenesis and the placenta is a major source of angiogenic factors, we hypothesized that it is involved in alcohol-induced brain vascular defects. In mouse, using in vivo repression and overexpression of PLGF, we investigated the contribution of placenta on fetal brain angiogenesis...
June 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28587626/evaluation-of-a-novel-antibody-to-define-histone-3-3-g34r-mutant-brain-tumours
#14
Farhana Haque, Pascale Varlet, Julien Puntonet, Lisa Storer, Aikaterini Bountali, Ruman Rahman, Jacques Grill, Angel M Carcaboso, Chris Jones, Robert Layfield, Richard G Grundy
Missense somatic mutations affecting histone H3.1 and H3.3 proteins are now accepted as the hallmark of paediatric diffuse intrinsic pontine gliomas (DIPG), non-brain stem paediatric high grade gliomas (pHGG) as well as a subset of adult glioblastoma multiforme (GBM). Different mutations give rise to one of three amino acid substitutions at two critical positions within the histone tails, K27M, G34R/V. Several studies have highlighted gene expression and epigenetic changes associated with histone H3 mutations; however their precise roles in tumourigenesis remain incompletely understood...
June 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28578681/dysregulation-of-lysophosphatidic-acids-in-multiple-sclerosis-and-autoimmune-encephalomyelitis
#15
K Schmitz, R Brunkhorst, N de Bruin, C A Mayer, A Häussler, N Ferreiros, S Schiffmann, M J Parnham, S Tunaru, J Chun, S Offermanns, C Foerch, K Scholich, J Vogt, S Wicker, J Lötsch, G Geisslinger, I Tegeder
Bioactive lipids contribute to the pathophysiology of multiple sclerosis. Here, we show that lysophosphatidic acids (LPAs) are dysregulated in multiple sclerosis (MS) and are functionally relevant in this disease. LPAs and autotaxin, the major enzyme producing extracellular LPAs, were analyzed in serum and cerebrospinal fluid in a cross-sectional population of MS patients and were compared with respective data from mice in the experimental autoimmune encephalomyelitis (EAE) model, spontaneous EAE in TCR(1640) mice, and EAE in Lpar2 (-/-) mice...
June 2, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28554330/rho-associated-protein-kinase-2-rock2-a-new-target-of-autoimmunity-in-paraneoplastic-encephalitis
#16
Stoyan Popkirov, Ilya Ayzenberg, Stefanie Hahn, Jan Bauer, Yvonne Denno, Nicole Rieckhoff, Christiane Radzimski, Volkmar H Hans, Sebastian Berg, Florian Roghmann, Joachim Noldus, Christian G Bien, Sabine Skodda, Jörg Wellmer, Winfried Stöcker, Christos Krogias, Ralf Gold, Uwe Schlegel, Christian Probst, Lars Komorowski, Ramona Miske, Ingo Kleiter
Onconeural antibodies are associated with cancer and paraneoplastic encephalitis. While their pathogenic role is still largely unknown, their high diagnostic value is undisputed. In this study we describe the discovery of a novel target of autoimmunity in an index case of paraneoplastic encephalitis associated with urogenital cancer.A 75-year-old man with a history of invasive bladder carcinoma 6 years ago with multiple recurrences and a newly discovered renal cell carcinoma presented with seizures and progressive cognitive decline followed by super-refractory status epilepticus...
May 29, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28532485/multidimensional-scaling-of-diffuse-gliomas-application-to-the-2016-world-health-organization-classification-system-with-prognostically-relevant-molecular-subtype-discovery
#17
Patrick J Cimino, Michael Zager, Lisa McFerrin, Hans-Georg Wirsching, Hamid Bolouri, Bettina Hentschel, Andreas von Deimling, David Jones, Guido Reifenberger, Michael Weller, Eric C Holland
Recent updating of the World Health Organization (WHO) classification of central nervous system (CNS) tumors in 2016 demonstrates the first organized effort to restructure brain tumor classification by incorporating histomorphologic features with recurrent molecular alterations. Revised CNS tumor diagnostic criteria also attempt to reduce interobserver variability of histological interpretation and provide more accurate stratification related to clinical outcome. As an example, diffuse gliomas (WHO grades II-IV) are now molecularly stratified based upon isocitrate dehydrogenase 1 or 2 (IDH) mutational status, with gliomas of WHO grades II and III being substratified according to 1p/19q codeletion status...
May 22, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28506301/diffuse-non-midline-glioma-with-h3f3a-k27m-mutation-a-prognostic-and-treatment-dilemma
#18
LETTER
Giselle López, Nancy Ann Oberheim Bush, Mitchel S Berger, Arie Perry, David A Solomon
No abstract text is available yet for this article.
May 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28482862/higher-levels-of-myelin-phospholipids-in-brains-of-neuronal-%C3%AE-synuclein-transgenic-mice-precede-myelin-loss
#19
Jessica Grigoletto, Katharina Pukaß, Ayelet Gamliel, Dana Davidi, Rachel Katz-Brull, Christiane Richter-Landsberg, Ronit Sharon
α-Synuclein is a protein involved in the pathogenesis of synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). We investigated the role of neuronal α-Syn in myelin composition and abnormalities. The phospholipid content of purified myelin was determined by (31)P NMR in two mouse lines modeling PD, PrP-A53T α-Syn and Thy-1 wt-α-Syn. Significantly higher levels of phospholipids were detected in myelin purified from brains of these α-Syn transgenic mouse models than in control mice...
May 8, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28460636/hydrocephalus-due-to-multiple-ependymal-malformations-is-caused-by-mutations-in-the-mpdz-gene
#20
Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle-Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, Marie Brasseur-Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown...
May 1, 2017: Acta Neuropathologica Communications
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