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Brain Pathology

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https://www.readbyqxmd.com/read/29757481/severe-white-matter-astrocytopathy-in-cadasil
#1
Yoshiki Hase, Aiqing Chen, Letitia L Bates, Lucinda J L Craggs, Yumi Yamamoto, Elizabeth Gemmell, Arthur E Oakley, Viktor I Korolchuk, Raj N Kalaria
Objectives Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterised by strategic white matter (WM) hyperintensities on MRI. Pathological features include WM degeneration, arteriolosclerosis, lacunar infarcts and the deposition of granular osmiophilic material. Based on the hypothesis that the gliovascular unit is compromised, we assessed the nature of astrocyte damage in the deep WM of CADASIL subjects. Methods We evaluated post-mortem brains from CADASIL, cerebral small vessel disease, similar age cognitively normal and older control subjects...
May 14, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29722917/pathogenic-variants-in-the-abcc6-gene-are-associated-with-an-increased-risk-for-ischemic-stroke
#2
Eva Y G De Vilder, Stefanie Cardoen, Mohammad J Hosen, Olivier Le Saux, Julie De Zaeytijd, Bart P Leroy, Jacques De Reuck, Paul J Coucke, Anne De Paepe, Dimitri Hemelsoet, Olivier M Vanakker
Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors. We investigated the ABCC6 gene as a candidate risk factor for ischemic stroke because of the increased ischemic stroke incidence in the autosomal recessive disorder pseudoxanthoma elasticum, caused by biallelic pathogenic ABCC6 variants, the higher cardiovascular risk in heterozygous carriers and the established role of ABCC6 dysfunction in myocardial ischemia...
May 3, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29679497/ewsr1-patz1-gene-fusion-may-define-a-new-glioneuronal-tumor-entity
#3
Aurore Siegfried, Audrey Rousseau, Claude-Alain Maurage, Sarah Pericart, Yvan Nicaise, Frederic Escudie, David Grand, Alix Delrieu, Anne Gomez-Brouchet, Sophie Le Guellec, Camille Franchet, Sergio Boetto, Matthieu Vinchon, Jean-Christophe Sol, Franck-Emmanuel Roux, Valerie Rigau, Anne-Isabelle Bertozzi, David Tw Jones, Dominique Figarella-Branger, Emmanuelle Uro-Coste
We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger sequencing confirmed the EWSR1-PATZ1 fusion. It matched with canonic EWSR1 fusion oncogene, juxtaposing the entire N terminal transcriptional activation domain of EWSR1 gene and the C terminal DNA binding domain of a transcription factor gene, PATZ1...
April 21, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29668072/a-unique-telomere-dna-expansion-phenotype-in-human-retinal-rod-photoreceptors-associated-with-aging-and-disease
#4
W Robert Bell, Alan K Meeker, Anthony Rizzo, Sumit Rajpara, Ian M Rosenthal, Miguel Flores Bellver, Silvia Aparicio Domingo, Xiufeng Zhong, John R Barber, Corinne E Joshu, M Valeria Canto-Soler, Charles G Eberhart, Christopher M Heaphy
We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non-neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of the central nervous system, which maintain their telomeres via the non-telomerase-mediated alternative lengthening of telomeres (ALT) mechanism. We observed that these large, ultra-bright telomere DNA foci are restricted to the rod photoreceptors and are not observed in other cell types...
April 18, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29665128/a-role-for-astrocyte-derived-amyloid-%C3%AE-peptides-in-the-degeneration-of-neurons-in-an-animal-model-of-temporal-lobe-epilepsy
#5
A Kodam, D Ourdev, M Maulik, J Hariharakrishnan, M Banerjee, Y Wang, S Kar
Kainic acid, an analogue of the excitatory neurotransmitter glutamate, can trigger seizures and neurotoxicity in the hippocampus and other limbic structures in a manner that mirrors the neuropathology of human temporal lobe epilepsy (TLE). However, the underlying mechanisms associated with the neurotoxicity remain unclear. Since amyloid-β (Aβ) peptides, which are critical in the development of Alzheimer's disease, can mediate toxicity by activating glutamatergic NMDA receptors, it is likely that the enhanced glutamatergic transmission that renders hippocampal neurons vulnerable to kainic acid treatment may involve Aβ peptides...
April 17, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29600523/grading-of-meningeal-solitary-fibrous-tumors-hemangiopericytomas-analysis-of-the-prognostic-value-of-the-marseille-grading-system-in-a-cohort-of-132-patients
#6
Nicolas Macagno, Rob Vogels, Romain Appay, Carole Colin, Karima Mokhtari, Benno Küsters, Pieter Wesseling, Dominique Figarella-Branger, Uta Flucke, Corinne Bouvier
The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016 Classification of tumors of the central nervous system (CNS) as different manifestations of the same entity. Given that the clinical behavior of the CNS SFT/HPC spectrum ranges from benign to malignant, it is presently unclear whether the grading criteria are still adequate. Here, we present the results of a study that analyzed the prognostic value of an updated version of the Marseille Grading System (MGS) in a retrospectively assembled cohort of 132 primary meningeal SFTs/HPCs with nuclear overexpression of STAT6...
March 30, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29509313/creutzfeldt-astrocytes-may-be-seen-in-idh-wildtype-glioblastoma-and-retain-expression-of-dna-repair-and-chromatin-binding-proteins
#7
Leomar Y Ballester, Zain Boghani, David S Baskin, Gavin W Britz, Randall Olsen, Gregory N Fuller, Suzanne Z Powell, Matthew D Cykowski
Astrocytes with multiple micronuclei ("Creutzfeldt cells") in a brain biopsy are classically associated with demyelinating disease. However, glioblastoma may also have prominent Creutzfeldt astrocytes, along with granular mitoses. Therefore, Creutzfeldt cells may raise the diagnostic dilemma of high-grade glioma vs tumefactive demyelination. While cases of glioblastoma (GBM) with Creutzfeldt astrocytes have been reported, their clinicopathologic spectrum and genetic features are not understood. Studies have proposed that micronuclei in Creutzfeldt cells are a consequence of DNA damage, or may be susceptible to DNA damage and chromothripsis, but their biology in the context of glioblastoma remains unclear...
March 6, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29509279/abnormal-development-of-the-inferior-temporal-region-in-fetuses-with-down-syndrome
#8
Sandra Guidi, Andrea Giacomini, Fiorenza Stagni, Marco Emili, Beatrice Uguagliati, Maria Paola Bonasoni, Renata Bartesaghi
Down syndrome (DS) is a genetic condition associated with impairment in several cognitive domains. Previous evidence showed a notable neurogenesis reduction in the hippocampal region of DS fetuses, which may account for the impairment of declarative memory that characterizes DS starting from early life stages. The fusiform gyrus (FG) and the inferior temporal gyrus (ITG) play a key role in visual recognition memory, a function that is impaired in children and adults with DS. The goal of the current study was to establish whether fetuses with DS (17-21 weeks of gestation) exhibit neuroanatomical alterations in the FG and ITG that may underlie recognition memory impairment...
March 6, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29505163/generation-of-novel-neuroinvasive-prions-following-intravenous-challenge
#9
Patricia Aguilar-Calvo, Cyrus Bett, Alejandro M Sevillano, Timothy D Kurt, Jessica Lawrence, Katrin Soldau, Per Hammarström, K Peter R Nilsson, Christina J Sigurdson
Prion aggregates typically spread into the central nervous system (CNS), likely via peripheral nerves. Yet prion conformers differ in their capacity to penetrate the CNS; certain fibrillar prions replicate persistently in lymphoid tissues with no CNS entry, leading to chronic silent carriers. Subclinical carriers of variant Creutzfeldt-Jakob (vCJD) prions in the United Kingdom have been estimated at 1:2000, and vCJD prions have been transmitted through blood transfusion, however the circulating prion conformers that neuroinvade remain unclear...
March 5, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29505099/higher-levels-of-kallikrein-8-in-female-brain-may-increase-the-risk-for-alzheimer-s-disease
#10
Kathy Keyvani, Yvonne Münster, Nirup K Kurapati, Sebastian Rubach, Andreas Schönborn, Emre Kocakavuk, Mohamed Karout, Pia Hammesfahr, Ya-Chao Wang, Dirk M Hermann, Sarah Teuber-Hanselmann, Arne Herring
Women seem to have a higher vulnerability to Alzheimer's disease (AD), but the underlying mechanisms of this sex dichotomy are not well understood. Here, we first determined the influence of sex on various aspects of Alzheimer's pathology in transgenic CRND8 mice. We demonstrate that beta-amyloid (Aβ) plaque burden starts to be more severe around P180 (moderate disease stage) in female transgenics when compared to males and that aging aggravates this sex-specific difference. Furthermore, we show that female transgenics suffer from higher levels of neurovascular dysfunction around P180, resulting in impaired Aβ peptide clearance across the blood-brain-barrier at P360...
March 5, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29485701/brain-alpha-amylase-a-novel-energy-regulator-important-in-alzheimer-disease
#11
Elin Byman, Nina Schultz, Malin Fex, Malin Wennström
Reduced glucose metabolism and formation of polyglucosan bodies (PGB) are, beside amyloid beta plaques and neurofibrillary tangles, well-known pathological findings associated with Alzheimer's disease (AD). Since both glucose availability and PGB are regulated by enzymatic degradation of glycogen, we hypothesize that dysfunctional glycogen degradation is a critical event in AD progression. We therefore investigated whether alpha (α)-amylase, an enzyme known to efficiently degrade polysaccharides in the gastrointestinal tract, is expressed in the hippocampal CA1/subiculum and if the expression is altered in AD patients...
February 27, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740949/68-year-old-woman-with-multiple-sclerosis-cutaneous-t-cell-lymphoma-and-seizures
#12
Alireza Shams, Katherine Schwetye
No abstract text is available yet for this article.
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740948/astrocytes-an-active-player-in-aicardi-gouti%C3%A3-res-syndrome
#13
Sunetra Sase, Asako Takanohashi, Adeline Vanderver, Akshata Almad
Aicardi-Goutières syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 and IFIH1/MDA5. The phenotypic presentation and pathophysiology of AGS is associated with over-production of the cytokine Interferon-alpha (IFN-α) and its downstream signaling, characterized as type I interferonopathy...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740947/a-25-year-old-male-with-a-subgaleal-mass
#14
Melanie H Hakar, Benjamin P Liu, Craig M Horbinski
No abstract text is available yet for this article.
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740946/a-37-year-old-woman-with-progressive-right-side-ptosis-for-one-month
#15
Hui-Yuan Su, Yu-Feng Su
No abstract text is available yet for this article.
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740945/alexander-disease-an-astrocytopathy-that-produces-a-leukodystrophy
#16
Alexander Sosunov, Markel Olabarria, James E Goldman
Alexander Disease (AxD) is a degenerative disorder caused by mutations in the GFAP gene, which encodes the major intermediate filament of astrocytes. As other cells in the CNS do not express GFAP, AxD is a primary astrocyte disease. Astrocytes acquire a large number of pathological features, including changes in morphology, the loss or diminution of a number of critical astrocyte functions and the activation of cell stress and inflammatory pathways. AxD is also characterized by white matter degeneration, a pathology that has led it to be included in the "leukodystrophies...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740944/corrigendum
#17
(no author information available yet)
No abstract text is available yet for this article.
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740943/vanishing-white-matter-a-leukodystrophy-due-to-astrocytic-dysfunction
#18
Marianna Bugiani, Caroline Vuong, Marjolein Breur, Marjo S van der Knaap
VWM is one of the most prevalent leukodystrophies with unique clinical, pathological and molecular features. It mostly affects children, but may develop at all ages, from birth to senescence. It is dominated by cerebellar ataxia and susceptible to stresses that act as factors provoking disease onset or episodes of rapid neurological deterioration possibly leading to death. VWM is caused by mutations in any of the genes encoding the five subunits of the eukaryotic translation initiation factor 2B (eIF2B). Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740942/genetic-defects-disrupting-glial-ion-and-water-homeostasis-in-the-brain
#19
Rogier Min, Marjo S van der Knaap
Electrical activity of neurons in the brain, caused by the movement of ions between intracellular and extracellular compartments, is the basis of all our thoughts and actions. Maintaining the correct ionic concentration gradients is therefore crucial for brain functioning. Ion fluxes are accompanied by the displacement of osmotically obliged water. Since even minor brain swelling leads to severe brain damage and even death, brain ion and water movement has to be tightly regulated. Glial cells, in particular astrocytes, play a key role in ion and water homeostasis...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740941/deposition-of-phosphorylated-amyloid-%C3%AE-in-brains-of-aged-nonhuman-primates-and-canines
#20
LETTER
Sathish Kumar, Jeffrey L Frost, Carl W Cotman, Elizabeth Head, Roberta Palmour, Cynthia A Lemere, Jochen Walter
No abstract text is available yet for this article.
May 2018: Brain Pathology
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