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Acta Neuropathologica

Alissa L Nana, Manu Sidhu, Stephanie E Gaus, Ji-Hye L Hwang, Libo Li, Youngsoon Park, Eun-Joo Kim, Lorenzo Pasquini, Isabel E Allen, Katherine P Rankin, Gianina Toller, Joel H Kramer, Daniel H Geschwind, Giovanni Coppola, Eric J Huang, Lea T Grinberg, Bruce L Miller, William W Seeley
TAR DNA-binding protein 43 (TDP-43) aggregation is the most common pathological hallmark in frontotemporal dementia (FTD) and characterizes nearly all patients with motor neuron disease (MND). The earliest stages of TDP-43 pathobiology are not well-characterized, and whether neurodegeneration results from TDP-43 loss-of-function or aggregation remains unclear. In the behavioral variant of FTD (bvFTD), patients undergo selective dropout of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterior cingulate cortices...
December 3, 2018: Acta Neuropathologica
Alice Prigent, Arthur Lionnet, Emilie Durieu, Guillaume Chapelet, Arnaud Bourreille, Michel Neunlist, Malvyne Rolli-Derkinderen, Pascal Derkinderen
No abstract text is available yet for this article.
November 30, 2018: Acta Neuropathologica
José Luis Molinuevo, Scott Ayton, Richard Batrla, Martin M Bednar, Tobias Bittner, Jeffrey Cummings, Anne M Fagan, Harald Hampel, Michelle M Mielke, Alvydas Mikulskis, Sid O'Bryant, Philip Scheltens, Jeffrey Sevigny, Leslie M Shaw, Holly D Soares, Gary Tong, John Q Trojanowski, Henrik Zetterberg, Kaj Blennow
Alzheimer's disease (AD) is a progressive neurodegenerative disease with a complex and heterogeneous pathophysiology. The number of people living with AD is predicted to increase; however, there are no disease-modifying therapies currently available and none have been successful in late-stage clinical trials. Fluid biomarkers measured in cerebrospinal fluid (CSF) or blood hold promise for enabling more effective drug development and establishing a more personalized medicine approach for AD diagnosis and treatment...
November 28, 2018: Acta Neuropathologica
Kate Lykke Lambertsen, Bente Finsen, Bettina Hjelm Clausen
Inflammation is currently considered a prime target for the development of new stroke therapies. In the acute phase of ischemic stroke, microglia are activated and then circulating immune cells invade the peri-infarct and infarct core. Resident and infiltrating cells together orchestrate the post-stroke inflammatory response, communicating with each other and the ischemic neurons, through soluble and membrane-bound signaling molecules, including cytokines. Inflammation can be both detrimental and beneficial at particular stages after a stroke...
November 27, 2018: Acta Neuropathologica
Paul A De Sousa, Diane Ritchie, Alison Green, Siddharthan Chandran, Richard Knight, Mark W Head
The inadvertent transmission of long incubating, untreatable and fatal neurodegenerative prionopathies, notably iatrogenic Creutzfeldt-Jakob disease, following transplantation of cadaver-derived corneas, pituitary growth, hormones and dura mater, constitutes a historical precedent which has underpinned the application of precautionary principles to modern day advanced cell therapies. To date these have been reflected by geographic or medical history risk-based deferral of tissue donors. Emergent understanding of other prion-like proteinopathies, their potential independence from prions as a transmissible agent and the variable capability of scalably manufacturable stem cells and derivatives to take up and clear or to propagate prions, substantiate further commitment to qualifying neurodegenerative proteinopathy transmission risks...
November 27, 2018: Acta Neuropathologica
Gaël Nicolas, Joris A Veltman
The genetic underpinnings of the most common adult-onset neurodegenerative disorders (AOND) are complex in majority of the cases. In some families, however, the disease can be inherited in a Mendelian fashion as an autosomal-dominant trait. Next to that, patients carrying mutations in the same disease genes have been reported despite a negative family history. Although challenging to demonstrate due to the late onset of the disease in most cases, the occurrence of de novo mutations can explain this sporadic presentation, as demonstrated for severe neurodevelopmental disorders...
November 26, 2018: Acta Neuropathologica
Lulu Jiang, Peter E A Ash, Brandon F Maziuk, Heather I Ballance, Samantha Boudeau, Ali Al Abdullatif, Marcello Orlando, Leonard Petrucelli, Tsuneya Ikezu, Benjamin Wolozin
RNA binding proteins (RBPs) are strongly linked to the pathophysiology of motor neuron diseases. Recent studies show that RBPs, such as TIA1, also contribute to the pathophysiology of tauopathy. RBPs co-localize with tau pathology, and reduction of TIA1 protects against tau-mediated neurodegeneration. The mechanism through which TIA1 reduction protects against tauopathy, and whether TIA1 modulates the propagation of tau, are unknown. Previous studies indicate that the protective effect of TIA1 depletion correlates with both the reduction of oligomeric tau and the reduction of pathological TIA1 positive tau inclusions...
November 21, 2018: Acta Neuropathologica
Jason Chiang, James Dalton, Santhosh A Upadhyaya, Zoltán Patay, Ibrahim Qaddoumi, Xiaoyu Li, Annette D Segura, Suash Sharma, Azzam Ismail, Sheila A Shurtleff, Susana C Raimondi
No abstract text is available yet for this article.
November 21, 2018: Acta Neuropathologica
Madelyn E McCauley, Robert H Baloh
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases that overlap in their clinical presentation, pathology and genetics, and likely represent a spectrum of one underlying disease. In ALS/FTD patients, neuroinflammation characterized by innate immune responses of tissue-resident glial cells is uniformly present on end-stage pathology, and human imaging studies and rodent models support that neuroinflammation begins early in disease pathogenesis. Additionally, changes in circulating immune cell populations and cytokines are found in ALS/FTD patients, and there is evidence for an autoinflammatory state...
November 21, 2018: Acta Neuropathologica
Changcun Pan, Bill H Diplas, Xin Chen, Yuliang Wu, Xiong Xiao, Liping Jiang, Yibo Geng, Cheng Xu, Yu Sun, Peng Zhang, Wenhao Wu, Yu Wang, Zhen Wu, Junting Zhang, Yuchen Jiao, Hai Yan, Liwei Zhang
Brainstem gliomas are molecularly heterogeneous diseases, many of which are difficult to safely surgically resect and have limited treatment options due to their eloquent location. These constraints pose challenges to biopsy, which limits the use of routine molecular profiling and identification of personalized therapies. Here, we explored the potential of sequencing of circulating tumor DNA (ctDNA) isolated from the cerebrospinal fluid (CSF) of brainstem glioma patients as a less invasive approach for tumor molecular profiling...
November 20, 2018: Acta Neuropathologica
Mukesh Gautam, Javier H Jara, Nuran Kocak, Lauren E Rylaarsdam, Ki Dong Kim, Eileen H Bigio, P Hande Özdinler
Insoluble aggregates containing TDP-43 are widely observed in the diseased brain, and defined as "TDP-43 pathology" in a spectrum of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), Alzheimer's disease and ALS with frontotemporal dementia. Here we report that Betz cells of patients with TDP-43 pathology display a distinct set of intracellular defects especially at the site of nuclear membrane, mitochondria and endoplasmic reticulum (ER). Numerous TDP-43 mouse models have been generated to discern the cellular and molecular basis of the disease, but mechanisms of neuronal vulnerability remain unknown...
November 19, 2018: Acta Neuropathologica
Emmanuelle Uro-Coste, Julien Masliah-Planchon, Aurore Siegfried, Maud Blanluet, Sander Lambo, Marcel Kool, Thomas Roujeau, Sergio Boetto, Gilles Palenzuela, Anne-Isabelle Bertozzi, Marion Gambart, Isabelle Coupier, Isabelle Oliver-Petit, Lisa Golmard, Sophie Julia, Fréderique Savagner, Badreddine Mohand-Oumoussa, Arnault Tauziede-Espariat, Marie-Bernadette Delisle, Dominique Figarella-Branger, Franck Bourdeaut, Valérie Rigau
No abstract text is available yet for this article.
November 16, 2018: Acta Neuropathologica
Fabian Szepanowski, Leon-Phillip Szepanowski, Anne K Mausberg, Philipp Albrecht, Christoph Kleinschnitz, Bernd C Kieseier, Mark Stettner
No abstract text is available yet for this article.
November 16, 2018: Acta Neuropathologica
Matthew P Frosch
No abstract text is available yet for this article.
November 15, 2018: Acta Neuropathologica
Susanne Walter, Thorsten Jumpertz, Melanie Hüttenrauch, Isabella Ogorek, Hermeto Gerber, Steffen E Storck, Silvia Zampar, Mitko Dimitrov, Sandra Lehmann, Klaudia Lepka, Carsten Berndt, Jens Wiltfang, Christoph Becker-Pauly, Dirk Beher, Claus U Pietrzik, Patrick C Fraering, Oliver Wirths, Sascha Weggen
Brain accumulation and aggregation of amyloid-β (Aβ) peptides is a critical step in the pathogenesis of Alzheimer's disease (AD). Full-length Aβ peptides (mainly Aβ1-40 and Aβ1-42) are produced through sequential proteolytic cleavage of the amyloid precursor protein (APP) by β- and γ-secretases. However, studies of autopsy brain samples from AD patients have demonstrated that a large fraction of insoluble Aβ peptides are truncated at the N-terminus, with Aβ4-x peptides being particularly abundant. Aβ4-x peptides are highly aggregation prone, but their origin and any proteases involved in their generation are unknown...
November 13, 2018: Acta Neuropathologica
Iris J Broce, Chin Hong Tan, Chun Chieh Fan, Iris Jansen, Jeanne E Savage, Aree Witoelar, Natalie Wen, Christopher P Hess, William P Dillon, Christine M Glastonbury, Maria Glymour, Jennifer S Yokoyama, Fanny M Elahi, Gil D Rabinovici, Bruce L Miller, Elizabeth C Mormino, Reisa A Sperling, David A Bennett, Linda K McEvoy, James B Brewer, Howard H Feldman, Bradley T Hyman, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, Gerard D Schellenberg, Kristine Yaffe, Leo P Sugrue, Anders M Dale, Danielle Posthuma, Ole A Andreassen, Celeste M Karch, Rahul S Desikan
Cardiovascular (CV)- and lifestyle-associated risk factors (RFs) are increasingly recognized as important for Alzheimer's disease (AD) pathogenesis. Beyond the ε4 allele of apolipoprotein E (APOE), comparatively little is known about whether CV-associated genes also increase risk for AD. Using large genome-wide association studies and validated tools to quantify genetic overlap, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with AD and one or more CV-associated RFs, namely body mass index (BMI), type 2 diabetes (T2D), coronary artery disease (CAD), waist hip ratio (WHR), total cholesterol (TC), triglycerides (TG), low-density (LDL) and high-density lipoprotein (HDL)...
November 9, 2018: Acta Neuropathologica
Andreas H Eckhard, MengYu Zhu, Jennifer T O'Malley, Gordon H Williams, Johannes Loffing, Steven D Rauch, Joe B Nadol, M Charles Liberman, Joe C Adams
Meniere's disease (MD), a syndromal inner ear disease, is commonly associated with a pathological accumulation of endolymphatic fluid in the inner ear, termed "idiopathic" endolymphatic hydrops (iEH). Although numerous precipitating/exacerbating factors have been proposed for MD, its etiology remains elusive. Here, using immunohistochemistry and in situ protein-protein interaction detection assays, we demonstrate mineralocorticoid-controlled sodium transport mechanisms in the epithelium of the extraosseous portion of the endolymphatic sac (eES) in the murine and human inner ears...
November 2, 2018: Acta Neuropathologica
Ethan G Geier, Mathieu Bourdenx, Nadia J Storm, J Nicholas Cochran, Daniel W Sirkis, Ji-Hye Hwang, Luke W Bonham, Eliana Marisa Ramos, Antonio Diaz, Victoria Van Berlo, Deepika Dokuru, Alissa L Nana, Anna Karydas, Maureen E Balestra, Yadong Huang, Silvia P Russo, Salvatore Spina, Lea T Grinberg, William W Seeley, Richard M Myers, Bruce L Miller, Giovanni Coppola, Suzee E Lee, Ana Maria Cuervo, Jennifer S Yokoyama
Pathogenic variation in MAPT, GRN, and C9ORF72 accounts for at most only half of frontotemporal lobar degeneration (FTLD) cases with a family history of neurological disease. This suggests additional variants and genes that remain to be identified as risk factors for FTLD. We conducted a case-control genetic association study comparing pathologically diagnosed FTLD patients (n = 94) to cognitively normal older adults (n = 3541), and found suggestive evidence that gene-wide aggregate rare variant burden in MFSD8 is associated with FTLD risk...
October 31, 2018: Acta Neuropathologica
Philipp Sievers, Damian Stichel, Thomas Hielscher, Daniel Schrimpf, Annekathrin Reinhardt, Annika K Wefers, David Reuss, David T W Jones, Melanie Bewerunge-Hudler, Christian Hartmann, Peter Baumgarten, Hans-Georg Wirsching, Bjarne Winther-Kristensen, Benjamin Brokinkel, Ralf Ketter, Miguel Angel Idoate Gastearena, Katrin Lamszus, Marcel Seiz-Rosenhagen, Christian Mawrin, Patrick N Harter, Jörg Felsberg, Daniel Hänggi, Christel Herold-Mende, Anna Sophie Berghoff, Michael Weller, Stefan M Pfister, Wolfgang Wick, Guido Reifenberger, Matthias Preusser, Andreas von Deimling, Felix Sahm
No abstract text is available yet for this article.
October 31, 2018: Acta Neuropathologica
Marc H Goldfinger, Helen Ling, Bension S Tilley, Alan K L Liu, Karen Davey, Janice L Holton, Tamas Revesz, Steve M Gentleman
No abstract text is available yet for this article.
October 30, 2018: Acta Neuropathologica
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