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Acta Neuropathologica

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https://www.readbyqxmd.com/read/29209768/spread-of-aggregates-after-olfactory-bulb-injection-of-%C3%AE-synuclein-fibrils-is-associated-with-early-neuronal-loss-and-is-reduced-long-term
#1
Nolwen L Rey, Sonia George, Jennifer A Steiner, Zachary Madaj, Kelvin C Luk, John Q Trojanowski, Virginia M-Y Lee, Patrik Brundin
Parkinson's disease is characterized by degeneration of substantia nigra dopamine neurons and by intraneuronal aggregates, primarily composed of misfolded α-synuclein. The α-synuclein aggregates in Parkinson's patients are suggested to first appear in the olfactory bulb and enteric nerves and then propagate, following a stereotypic pattern, via neural pathways to numerous regions across the brain. We recently demonstrated that after injection of either mouse or human α-synuclein fibrils into the olfactory bulb of wild-type mice, α-synuclein fibrils recruited endogenous α-synuclein into pathological aggregates that spread transneuronally to over 40 other brain regions and subregions, over 12 months...
December 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29196813/sense-encoded-poly-gr-dipeptide-repeat-proteins-correlate-to-neurodegeneration-and-uniquely-co-localize-with-tdp-43-in-dendrites-of-repeat-expanded-c9orf72-amyotrophic-lateral-sclerosis
#2
Shahram Saberi, Jennifer E Stauffer, Jie Jiang, Sandra Diaz Garcia, Amy E Taylor, Derek Schulte, Takuya Ohkubo, Cheyenne L Schloffman, Marcus Maldonado, Michael Baughn, Maria J Rodriguez, Don Pizzo, Don Cleveland, John Ravits
Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (C9 ALS). The main hypothesized pathogenic mechanisms are C9orf72 haploinsufficiency and/or toxicity from one or more of bi-directionally transcribed repeat RNAs and their dipeptide repeat proteins (DPRs) poly-GP, poly-GA, poly-GR, poly-PR and poly-PA. Recently, nuclear import and/or export defects especially caused by arginine-containing poly-GR or poly-PR have been proposed as significant contributors to pathogenesis based on disease models...
December 1, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29177679/polygenic-hazard-score-an-enrichment-marker-for-alzheimer-s-associated-amyloid-and-tau-deposition
#3
Chin Hong Tan, Chun Chieh Fan, Elizabeth C Mormino, Leo P Sugrue, Iris J Broce, Christopher P Hess, William P Dillon, Luke W Bonham, Jennifer S Yokoyama, Celeste M Karch, James B Brewer, Gil D Rabinovici, Bruce L Miller, Gerard D Schellenberg, Karolina Kauppi, Howard A Feldman, Dominic Holland, Linda K McEvoy, Bradley T Hyman, David A Bennett, Ole A Andreassen, Anders M Dale, Rahul S Desikan
There is an urgent need for identifying nondemented individuals at the highest risk of progressing to Alzheimer's disease (AD) dementia. Here, we evaluated whether a recently validated polygenic hazard score (PHS) can be integrated with known in vivo cerebrospinal fluid (CSF) or positron emission tomography (PET) biomarkers of amyloid, and CSF tau pathology to prospectively predict cognitive and clinical decline in 347 cognitive normal (CN; baseline age range = 59.7-90.1, 98.85% white) and 599 mild cognitively impaired (MCI; baseline age range = 54...
November 24, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29209767/neuropathology-of-iatrogenic-creutzfeldt-jakob-disease-and-immunoassay-of-french-cadaver-sourced-growth-hormone-batches-suggest-possible-transmission-of-tauopathy-and-long-incubation-periods-for-the-transmission-of-abeta-pathology
#4
Charles Duyckaerts, Véronique Sazdovitch, Kunie Ando, Danielle Seilhean, Nicolas Privat, Zehra Yilmaz, Laurène Peckeu, Elodie Amar, Emmanuel Comoy, Aleksandra Maceski, Sylvain Lehmann, Jean-Pierre Brion, Jean-Philippe Brandel, Stéphane Haïk
Abeta deposits and tau pathology were investigated in 24 French patients that died from iatrogenic Creutzfeldt-Jakob disease after exposure to cadaver-derived human growth hormone (c-hGH) in the 1980s. Abeta deposits were found only in one case that had experienced one of the longest incubation periods. Three cases had also intracellular tau accumulation. The analysis of 24 batches of c-hGH, produced between 1974 and 1988, demonstrated for the first time the presence of Abeta and tau contaminants in c-hGH (in 17 and 6 batches, respectively)...
November 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29151170/the-function-of-the-cellular-prion-protein-in-health-and-disease
#5
REVIEW
Joel C Watts, Matthew E C Bourkas, Hamza Arshad
The essential role of the cellular prion protein (PrP(C)) in prion disorders such as Creutzfeldt-Jakob disease is well documented. Moreover, evidence is accumulating that PrP(C) may act as a receptor for protein aggregates and transduce neurotoxic signals in more common neurodegenerative disorders, such as Alzheimer's disease. Although the pathological roles of PrP(C) have been thoroughly characterized, a general consensus on its physiological function within the brain has not yet been established. Knockout studies in various organisms, ranging from zebrafish to mice, have implicated PrP(C) in a diverse range of nervous system-related activities that include a key role in the maintenance of peripheral nerve myelination as well as a general ability to protect against neurotoxic stimuli...
November 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29151169/parkinson-s-disease-experimental-models-and-reality
#6
REVIEW
Peizhou Jiang, Dennis W Dickson
Parkinson's disease (PD) is a chronic, progressive movement disorder of adults and the second most common neurodegenerative disease after Alzheimer's disease. Neuropathologic diagnosis of PD requires moderate-to-marked neuronal loss in the ventrolateral substantia nigra pars compacta and α-synuclein (αS) Lewy body pathology. Nigrostriatal dopaminergic neurodegeneration correlates with the Parkinsonian motor features, but involvement of other peripheral and central nervous system regions leads to a wide range of non-motor features...
November 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29149419/changes-in-chromatin-state-reveal-arnt2-at-a-node-of-a-tumorigenic-transcription-factor-signature-driving-glioblastoma-cell-aggressiveness
#7
Alexandra Bogeas, Ghislaine Morvan-Dubois, Elias A El-Habr, François-Xavier Lejeune, Matthieu Defrance, Ashwin Narayanan, Klaudia Kuranda, Fanny Burel-Vandenbos, Salwa Sayd, Virgile Delaunay, Luiz G Dubois, Hugues Parrinello, Stéphanie Rialle, Sylvie Fabrega, Ahmed Idbaih, Jacques Haiech, Ivan Bièche, Thierry Virolle, Michele Goodhardt, Hervé Chneiweiss, Marie-Pierre Junier
Although a growing body of evidence indicates that phenotypic plasticity exhibited by glioblastoma cells plays a central role in tumor development and post-therapy recurrence, the master drivers of their aggressiveness remain elusive. Here we mapped the changes in active (H3K4me3) and repressive (H3K27me3) histone modifications accompanying the repression of glioblastoma stem-like cells tumorigenicity. Genes with changing histone marks delineated a network of transcription factors related to cancerous behavior, stem state, and neural development, highlighting a previously unsuspected association between repression of ARNT2 and loss of cell tumorigenicity...
November 17, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29134321/co-occurrence-of-mixed-proteinopathies-in-late-stage-huntington-s-disease
#8
Isabelle St-Amour, Andréanne Turgeon, Claudia Goupil, Emmanuel Planel, Sébastien S Hébert
Accumulating evidence highlights the potential role of mixed proteinopathies (i.e., abnormal protein aggregation) in the development of clinical manifestations of neurodegenerative diseases (NDD). Huntington's disease (HD) is an inherited NDD caused by autosomal-dominant expanded CAG trinucleotide repeat mutation in the gene coding for Huntingtin (Htt). Previous studies have suggested the coexistence of phosphorylated-Tau, α-synuclein (α-Syn) and TAR DNA-binding protein 43 (TDP-43) inclusions in HD. However, definite evidence that HD pathology in humans can be accompanied by other proteinopathies is still lacking...
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29134320/artificial-intelligence-in-neurodegenerative-disease-research-use-of-ibm-watson-to-identify-additional-rna-binding-proteins-altered-in-amyotrophic-lateral-sclerosis
#9
Nadine Bakkar, Tina Kovalik, Ileana Lorenzini, Scott Spangler, Alix Lacoste, Kyle Sponaugle, Philip Ferrante, Elenee Argentinis, Rita Sattler, Robert Bowser
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no effective treatments. Numerous RNA-binding proteins (RBPs) have been shown to be altered in ALS, with mutations in 11 RBPs causing familial forms of the disease, and 6 more RBPs showing abnormal expression/distribution in ALS albeit without any known mutations. RBP dysregulation is widely accepted as a contributing factor in ALS pathobiology. There are at least 1542 RBPs in the human genome; therefore, other unidentified RBPs may also be linked to the pathogenesis of ALS...
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29134319/regional-levels-of-physiological-%C3%AE-synuclein-are-directly-associated-with-lewy-body-pathology
#10
LETTER
Daniel Erskine, Lina Patterson, Athanasios Alexandris, Peter S Hanson, Ian G McKeith, Johannes Attems, Christopher M Morris
No abstract text is available yet for this article.
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29116375/uncoupling-n-acetylaspartate-from-brain-pathology-implications-for-canavan-disease-gene-therapy
#11
Georg von Jonquieres, Ziggy H T Spencer, Benjamin D Rowlands, Claudia B Klugmann, Andre Bongers, Anne E Harasta, Kristina E Parley, Jennie Cederholm, Orla Teahan, Russell Pickford, Fabien Delerue, Lars M Ittner, Dominik Fröhlich, Catriona A McLean, Anthony S Don, Miriam Schneider, Gary D Housley, Caroline D Rae, Matthias Klugmann
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. To identify the target tissue and cells for maximum anticipated treatment benefit, we employed comprehensive phenotyping of novel mouse models to assess cell type-specific consequences of NAA depletion or elevation...
November 7, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29094186/cofactors-influence-the-biological-properties-of-infectious-recombinant-prions
#12
Natalia Fernández-Borges, Michele A Di Bari, Hasier Eraña, Manuel Sánchez-Martín, Laura Pirisinu, Beatriz Parra, Saioa R Elezgarai, Ilaria Vanni, Rafael López-Moreno, Gabriele Vaccari, Vanessa Venegas, Jorge M Charco, David Gil, Chafik Harrathi, Claudia D'Agostino, Umberto Agrimi, Tomás Mayoral, Jesús R Requena, Romolo Nonno, Joaquín Castilla
Prion diseases are caused by a misfolding of the cellular prion protein (PrP) to a pathogenic isoform named PrP(Sc). Prions exist as strains, which are characterized by specific pathological and biochemical properties likely encoded in the three-dimensional structure of PrP(Sc). However, whether cofactors determine these different PrP(Sc) conformations and how this relates to their specific biological properties is largely unknown. To understand how different cofactors modulate prion strain generation and selection, Protein Misfolding Cyclic Amplification was used to create a diversity of infectious recombinant prion strains by propagation in the presence of brain homogenate...
November 1, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29063183/diffuse-midline-gliomas-with-subclonal-h3f3a-k27m-mutation-and-mosaic-h3-3-k27m-mutant-protein-expression
#13
LETTER
Giselle Y Lopez, Nancy Ann Oberheim Bush, Joanna J Phillips, John-Paul Bouffard, Yaron A Moshel, Kurt Jaeckle, B K Kleinschmidt-DeMasters, Marc K Rosenblum, Arie Perry, David A Solomon
No abstract text is available yet for this article.
October 23, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29058121/multiple-system-atrophy-experimental-models-and-reality
#14
REVIEW
Cassia Overk, Edward Rockenstein, Elvira Valera, Nadia Stefanova, Gregor Wenning, Eliezer Masliah
Multiple system atrophy (MSA) is a rapidly progressing fatal synucleinopathy of the aging population characterized by parkinsonism, dysautonomia, and in some cases ataxia. Unlike other synucleinopathies, in this disorder the synaptic protein, α-synuclein (α-syn), predominantly accumulates in oligodendroglial cells (and to some extent in neurons), leading to maturation defects of oligodendrocytes, demyelination, and neurodegeneration. The mechanisms through which α-syn deposits occur in oligodendrocytes and neurons in MSA are not completely clear...
October 20, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29058120/phenotyping-cognitive-impairment-in-dialysis-patients-insights-from-experimental-mouse-models
#15
LETTER
Dearbhla M Kelly
No abstract text is available yet for this article.
October 20, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29058119/comprehensive-molecular-characterisation-of-epilepsy-associated-glioneuronal-tumours
#16
Thomas J Stone, Angus Keeley, Alex Virasami, William Harkness, Martin Tisdall, Elisa Izquierdo Delgado, Alice Gutteridge, Tony Brooks, Mark Kristiansen, Jane Chalker, Lisa Wilkhu, William Mifsud, John Apps, Maria Thom, Mike Hubank, Tim Forshew, J Helen Cross, Darren Hargrave, Jonathan Ham, Thomas S Jacques
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. To address this, we used DNA methylation arrays and RNA sequencing to assay the methylation and expression profiles within a large cohort of glioneuronal tumours. By adopting a class discovery approach, we were able to identify two distinct groups of glioneuronal tumour, which only partially corresponded to the existing histological classification...
October 20, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29052003/accumulation-of-dysfunctional-sod1-protein-in-parkinson-s-disease-is-not-associated-with-mutations-in-the-sod1-gene
#17
LETTER
Benjamin G Trist, Jennifer A Fifita, Sarah E Freckleton, Dominic J Hare, Simon J G Lewis, Glenda M Halliday, Ian P Blair, Kay L Double
No abstract text is available yet for this article.
October 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29052002/molecular-and-clinical-heterogeneity-of-adult-diffuse-low-grade-idh-wild-type-gliomas-assessment-of-tert-promoter-mutation-and-chromosome-7-and-10-copy-number-status-allows-superior-prognostic-stratification
#18
LETTER
Maarten M J Wijnenga, Hendrikus J Dubbink, Pim J French, Nathalie E Synhaeve, Winand N M Dinjens, Peggy N Atmodimedjo, Johan M Kros, Clemens M F Dirven, Arnaud J P E Vincent, Martin J van den Bent
No abstract text is available yet for this article.
October 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29039141/does-parkinson-s-disease-start-in-the-gut
#19
REVIEW
Arthur Lionnet, Laurène Leclair-Visonneau, Michel Neunlist, Shigeo Murayama, Masaki Takao, Charles H Adler, Pascal Derkinderen, Thomas G Beach
Parkinson's disease (PD) is pathologically characterized by the presence of intraneuronal inclusions, termed Lewy bodies and Lewy neurites, whose main component is alpha-synuclein. Based on the topographic distribution of Lewy bodies and neurites established after autopsy from PD patients, Braak and coworkers hypothesized that PD pathology may start in the gastrointestinal tract then spread through the vagus nerve to the brain. This hypothesis has been reinforced by the discovery that alpha-synuclein may be capable of spreading transcellularly, thereby providing a mechanistic basis for Braak's hypothesis...
October 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29039140/casq1-mutations-impair-calsequestrin-polymerization-and-cause-tubular-aggregate-myopathy
#20
LETTER
Johann Böhm, Xavière Lornage, Frederic Chevessier, Catherine Birck, Simona Zanotti, Paola Cudia, Monica Bulla, Florence Granger, Mai Thao Bui, Maxime Sartori, Christiane Schneider-Gold, Edoardo Malfatti, Norma B Romero, Marina Mora, Jocelyn Laporte
No abstract text is available yet for this article.
October 16, 2017: Acta Neuropathologica
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