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Brain Pathology

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https://www.readbyqxmd.com/read/28213912/diagnostic-red-flags-steroid-treated-malignant-cns-lymphoma-mimicking-autoimmune-inflammatory-demyelination
#1
Alonso Barrantes-Freer, Aylin Sophie Engel, Odir Antonio Rodríguez-Villagra, Anne Winkler, Markus Bergmann, Christian Mawrin, Tania Kuempfel, Hannah Pellkofer, Imke Metz, Annalen Bleckmann, Silvia Hernández-Durán, Sven Schippling, Elisabeth J Rushing, Stephan Frank, Markus Glatzel, Jakob Matschke, Christian Hartmann, Guido Reifenberger, Wolf Müller, Hans-Ulrich Schildhaus, Wolfgang Brück, Christine Stadelmann
The presence of inflammation and demyelination in a central nervous system (CNS) biopsy points towards a limited, yet heterogeneous group of pathologies, of which multiple sclerosis (MS) represents one of the principal considerations. Inflammatory demyelination has also been reported in patients with clinically suspected primary central nervous system lymphoma (PCNSL), especially when steroids had been administered prior to biopsy acquisition. The histopathological changes induced by corticosteroid treatment can range from mild reduction to complete disappearance of lymphoma cells...
February 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28181327/hereditary-spastic-paraplegia-type-8-neuropathological-findings
#2
LETTER
Caroline Pehrson, Jens Michael Hertz, Martin Wirenfeldt, Egon Stenager, Lene Wermuth, Bjarne Winther Kristensen
No abstract text is available yet for this article.
February 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28181325/recurrent-copy-number-alterations-in-low-grade-and-anaplastic-pleomorphic-xanthoastrocytoma-with-and-without-braf-v600e-mutation
#3
Rachael A Vaubel, Alissa A Caron, Seiji Yamada, Paul A Decker, Jeanette E Eckel Passow, Fausto J Rodriguez, Amulya A Nageswara Rao, Daniel Lachance, Ian Parney, Robert Jenkins, Caterina Giannini
Pleomorphic xanthoastrocytoma (PXA) is a rare localized glioma characterized by frequent BRAF V600E mutation and CDKN2A/B deletion. We explored the association of copy-number variants (CNVs) with BRAF mutations, tumor grade, and patient survival in a cohort of 41 PXA patients using OncoScan chromosomal microarray. Primary resection specimens were available in 38 cases, including 24 PXA and 14 anaplastic PXA (A-PXA), 23 BRAF V600E mutant tumors (61%). CNVs were identified in all cases and most frequently involved chromosome 9 with homozygous CDKN2A/B deletion (n=33, 87%), a higher proportion than previously detected by comparative genomic hybridization (50-60%) (37)...
February 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28160367/cerebral-amyloidoma-is-characterized-by-b-cell-clonality-and-a-stable-clinical-course
#4
Katharina Heß, Jan Purrucker, Ute Hegenbart, Benjamin Brokinkel, Rouven Berndt, Kathy Keyvani, Camelia M Monoranu, Mario Löhr, Guido Reifenberger, Christopher Munoz-Bendix, Jörg Kalla, Justus Groß, Uta Schick, Jennifer Kollmer, Wolfram Klapper, Christoph Röcken, Martin Hasselblatt, Werner Paulus
Amyloidomas are rare amyloid-containing lesions, which may also occur in the central nervous system. Etiology, pathogenesis and clinical course are poorly understood. To gain more insight into the biology of cerebral amyloidoma, we aimed to characterize its histopathological, molecular and clinical features in a retrospective series of seven patients. FFPE tissue specimens were examined using immunohistochemistry, chromogenic in situ hybridization (CISH) for light chains kappa and lambda as well as an IgH gene clonality analysis...
February 4, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28117910/oligodendroglial-fibroblast-growth-factor-receptor-1-gene-targeting-protects-mice-from-experimental-autoimmune-encephalomyelitis-through-erk-akt-phosphorylation
#5
Ranjithkumar Rajendran, Mario Giraldo Velásquez, Christine Stadelmann, Martin Berghoff
Fibroblast growth factors (FGFs) exert diverse biological effects by binding and activation of specific fibroblast growth factor receptors (FGFRs). FGFs and FGFRs have been implicated in demyelinating pathologies including multiple sclerosis. In vitro activation of the FGF2/FGFR1 pathway results in downregulation of myelin proteins. FGF1, 2 and 9 have been shown to be involved in the pathology of multiple sclerosis. Recent studies on the function of oligodendroglial FGFR1 in a model of toxic demyelination showed that deletion of FGFR1 led to increased remyelination and preservation of axonal density and an increased number of mature oligodendrocytes...
January 24, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#6
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28035716/integrated-molecular-landscape-of-amyotrophic-lateral-sclerosis-provides-insights-into-disease-etiology
#7
C J H M Klemann, J E Visser, L Van Den Bosch, G J M Martens, G Poelmans
Amyotrophic lateral sclerosis (ALS) is a severe, progressive and ultimately fatal motor neuron disease caused by a combination of genetic and environmental factors, but its underlying mechanisms are largely unknown. In order to gain insight into the etiology of ALS, we here conducted genetic network and literature analyses of the top-ranked findings from six genome-wide association studies of sporadic ALS (involving 3589 cases and 8577 controls) as well as genes implicated in ALS etiology through other evidence, including familial ALS candidate gene association studies...
December 30, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28032389/bithalamic-gliomas-may-be-molecularly-distinct-from-their-unilateral-high-grade-counterparts
#8
Alberto Broniscer, Scott N Hwang, Omar Chamdine, Tong Lin, Stanley Pounds, Arzu Onar-Thomas, Lei Chi, Sheila Shurtleff, Sariah Allen, Amar Gajjar, Paul Northcott, Brent A Orr
Bithalamic gliomas are rare cancers diagnosed based on poorly defined radiologic criteria. Infiltrative astrocytomas account for most cases. While some previous studies reported dismal outcomes for patients with bithalamic gliomas irrespective of therapy and histologic grade, others described better prognoses even without anticancer therapy. Little is known about their molecular characteristics. We reviewed clinical, radiologic, and histologic features of patients with bithalamic gliomas treated at our institution over 15 years...
December 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28019685/tauopathy-with-hippocampal-4-repeat-tau-immunoreactive-spherical-inclusions-a-report-of-three-cases
#9
Gabor G Kovacs, Linda K Kwong, Murray Grossman, David J Irwin, Edward B Lee, John L Robinson, Eunran Suh, Vivianna M Van Deerlin, Virginia M Lee, John Q Trojanowski
Tauopathies are a major group of neurodegenerative proteinopathies characterized by the accumulation of abnormal and hyperphosphorylated tau proteins in the brain. Tau pathology is characterized as 3R (repeat) or 4R predominant or mixed 3R and 4R type. Here we report three cases lacking mutations in the microtubule associated protein tau (MAPT) gene with unusual tau pathology. The age at onset and duration of illness, respectively, were 63 and 20 years (male), 67 and 5 years (female) and 72 and 20 years (female)...
December 26, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27997995/cimpact-now-the-consortium-to-inform-molecular-and-practical-approaches-to-cns-tumor-taxonomy-a-new-initiative-in-advancing-nervous-system-tumor-classification
#10
David N Louis, Ken Aldape, Daniel J Brat, David Capper, David W Ellison, Cynthia Hawkins, Werner Paulus, Arie Perry, Guido Reifenberger, Dominique Figarella-Branger, Pieter Wesseling, Tracy T Batchelor, J Gregory Cairncross, Stefan M Pfister, Stefan Rutkowski, Michael Weller, Wolfgang Wick, Andreas von Deimling
No abstract text is available yet for this article.
December 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27997711/alzheimer-neuropathology-without-frontotemporal-lobar-degeneration-hallmarks-tar-dna-binding-protein-43-inclusions-in-missense-progranulin-mutation-cys139arg
#11
Veronica Redaelli, Giacomina Rossi, Emanuela Maderna, Gabor G Kovacs, Elena Piccoli, Paola Caroppo, Francesca Cacciatore, Sonia Spinello, Marina Grisoli, Giuliano Sozzi, Andrea Salmaggi, Fabrizio Tagliavini, Giorgio Giaccone
Null mutations in progranulin gene (GRN) reduce the progranulin production resulting in haploinsufficiency and are tightly associated with tau-negative frontotemporal lobar degeneration with TAR DNA-binding protein 43-positive inclusions (FTLD-TDP). Missense mutations of GRN were also identified, but their effects are not completely clear, in particular unanswered is the question of what neuropathology they elicit, also considering that their occurrence has been reported in patients with typical clinical features of Alzheimer disease...
December 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27997051/association-of-adipocyte-enhancer-binding-protein-1-with-alzheimer-s-disease-pathology-in-human-hippocampi
#12
Masahiro Shijo, Hiroyuki Honda, Satoshi O Suzuki, Hideomi Hamasaki, Masaaki Hokama, Nona Abolhassani, Yusaku Nakabeppu, Toshiharu Ninomiya, Takanari Kitazono, Toru Iwaki
Adipocyte enhancer binding protein 1 (AEBP1) activates inflammatory responses via the NF-κB pathway in macrophages and regulates adipogenesis in preadipocytes. Up-regulation of AEBP1 in the hippocampi of patients with Alzheimer's disease (AD) has been revealed by microarray analyses of autopsied brains from the Japanese general population (the Hisayama study). In this study, we compared the expression patterns of AEBP1 in normal and AD brains, including in the hippocampus, using immunohistochemistry. The subjects were 24 AD cases and 52 non-AD cases...
December 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27984680/mitochondrial-activity-in-the-frontal-cortex-area-8-and-angular-gyrus-in-parkinson-s-disease-and-parkinson-s-disease-with-dementia
#13
Paula Garcia-Esparcia, Anusha Koneti, M Cruz Rodríguez-Oroz, Belen Lago, José Antonio Del Rio, Isidro Ferrer
Altered mitochondrial function is characteristic in the substantia nigra in Parkinson's disease (PD). Information about mitochondria in other brain regions such as the cerebral cortex is conflicting mainly because most studies have not contemplated the possibility of variable involvement depending on the region, stage of disease progression, and clinical symptoms such as the presence or absence of dementia. RT-qPCR of 18 nuclear mRNAs encoding subunits of mitochondrial complexes and 12 mRNAs encoding energy metabolism-related enzymes; western blotting of mitochondrial proteins; and analysis of enzymatic activities of complexes I, II, II, IV and V of the respiratory chain were assessed in frontal cortex area 8 and the angular gyrus of middle-aged individuals (MA), and those with incidental PD (iPD), long-lasting PD with parkinsonism without dementia (PD) and long-lasting PD with dementia (PDD)...
December 16, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27984673/co-occurrence-of-histone-h3-k27m-and-braf-v600e-mutations-in-paediatric-midline-grade-i-ganglioglioma
#14
Mélanie Pagès, Kevin Beccaria, Nathalie Boddaert, Raphaël Saffroy, Aurore Besnard, David Castel, Frédéric Fina, Doriane Barets, Emilie Barret, Ludovic Lacroix, Franck Bielle, Felipe Andreiuolo, Arnault Tauziède-Espariat, Dominique Figarella-Branger, Stéphanie Puget, Jacques Grill, Fabrice Chrétien, Pascale Varlet
Ganglioglioma (GG) is a grade I tumor characterized by alterations in the MAPK pathway, including BRAF V600E mutation. Recently, diffuse midline glioma with an H3 K27M mutation was added to the WHO 2016 classification as a new grade IV entity. As co-occurrence of H3 K27M and BRAF V600E mutations has been reported in midline tumors and anaplastic GG, we searched for BRAF V600E and H3 K27M mutations in a series of 54 paediatric midline grade I GG (midline GG) to determine the frequency of double mutations and its relevance for prognosis...
December 16, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27936516/neuroprotection-of-hypoxic-postconditioning-against-global-cerebral-ischemia-through-influencing-posttranslational-regulations-of-heat-shock-protein-27-in-adult-rats
#15
Lixuan Zhan, Liu Liu, Kongping Li, Baoxing Wu, Dandan Liu, Donghai Liang, Haixia Wen, Yanmei Wang, Weiwen Sun, Weiping Liao, En Xu
We previously reported that hypoxic postconditioning (HPC) ameliorated hippocampal neuronal death induced by transient global cerebral ischemia (tGCI) in adult rats. However, the mechanism of HPC-induced neuroprotection is still elusive. Notably, heat shock protein 27 (Hsp27) has recently emerged as a potent neuroprotectant in cerebral ischemia. Although its robust protective effect on stroke has been recognized, the mechanism of Hsp27-mediated neuroprotection is largely unknown. Here, we investigated the potential molecular mechanism by which HPC modulates the posttranslational regulations of Hsp27 after tGCI...
December 9, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27935156/casp9-germline-mutation-in-a-family-with-multiple-brain-tumors
#16
Michael W Ronellenfitsch, Oh Ji Eun, Kaishi Satomi, Koichiro Sumi, Patrick N Harter, Joachim P Steinbach, Jörg Felsberg, David Capper, Catherine Voegele, Geoffroy Durand, James McKay, Florence Le Calvez-Kelm, Jens Schittenhelm, Barbara Klink, Michel Mittelbronn, Hiroko Ohgaki
We report a novel CASP9 germline mutation that may increase susceptibility to the development of brain tumors. We identified this mutation in a family in which three brain tumors had developed within three generations, including two anaplastic astrocytomas occurring in cousins. The cousins were diagnosed at similar ages (29 and 31 years), and their tumors showed similar histological features. Genetic analysis revealed somatic IDH1 and TP53 mutations in both tumors. However, no germline TP53 mutations were detected, despite the fact that this family fulfills the criteria of Li-Fraumeni-like syndrome...
December 9, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27893178/comprehensive-genetic-characterization-of-rosette-forming-glioneuronal-tumors-independent-component-analysis-by-tissue-microdissection
#17
Yohei Kitamura, Takashi Komori, Makoto Shibuya, Kentaro Ohara, Yuko Saito, Saeko Hayashi, Aya Sasaki, Eiji Nakagawa, Ryosuke Tomio, Akiyoshi Kakita, Masashi Nakatsukasa, Kazunari Yoshida, Hikaru Sasaki
A rosette-forming glioneuronal tumor (RGNT) is a rare mixed neuronal-glial tumor characterized by biphasic architecture of glial and neurocytic components. The number of reports of genetic analyses of RGNTs is few. Additionally, the genetic background of the unique biphasic pathological characteristics of such mixed neuronal-glial tumors remains unclear. To clarify the genetic background of RGNTs, we performed separate comprehensive genetic analyses of glial and neurocytic components of five RGNTs, by tissue microdissection...
November 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28217958/65-year-old-female-with-cerebellopontine-angle-lesion
#18
Reena Baweja, Kesava Reddy, Anthony Whitton, John Provias, Boleslaw Lach
No abstract text is available yet for this article.
March 2017: Brain Pathology
https://www.readbyqxmd.com/read/28217957/society-news
#19
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Brain Pathology
https://www.readbyqxmd.com/read/28217956/child-with-radiologically-recurrent-thalamic-tumor
#20
Tafadzwa Mandiwanza, Chandrasekaran Kaliaperumal, Linda Mulligan, Elizabeth Ryan, Seamus Looby, John Caird, Francesca Brett
No abstract text is available yet for this article.
March 2017: Brain Pathology
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