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Journal of Neuropathology and Experimental Neurology

Yi Liu, Song-Tao Qi, Chao-Hu Wang, Jun Pan, Jun Fan, Jun-Xiang Peng, Xi'an Zhang, Yun Bao, Ya-Wei Liu
The aim of this study was to clarify pathological and anatomical relationships between adamantinomatous craniopharyngiomas (ACP) and their surrounding structures. We previously established a QST classification scheme based on the apparent anatomic origin of the tumors. According to this classification, 13 type Q tumors, 6 type S tumors, and 42 type T ACPs were analyzed. Type Q tumors, which are most likely to involve the pituitary gland, did not invade the area of contact with the adenohypophysis. Instead, tumor invasion was observed in areas where the tumor contacted the neurohypophysis...
September 14, 2018: Journal of Neuropathology and Experimental Neurology
Valeria Guglielmi, Gaetano Vattemi, Daniela Cecconi, Giulio Fracasso, Matteo Marini, Giuliano Tomelleri
M-line is the narrow transverse band located in the center of the sarcomeric A-band that is mainly responsible for the stabilization of myosin thick filaments. A 27-year-old male patient with a positive medical history for ankylosing spondylitis presented with one month of proximal upper limb muscle weakness associated with pain on both acromioclavicular joints. A biopsy of deltoid muscle documented the disappearance of M-line, the misalignment of myofilaments, and the loss of the distinction between the A and I bands...
September 12, 2018: Journal of Neuropathology and Experimental Neurology
Johannes Brettschneider, EunRan Suh, John L Robinson, Lubin Fang, Edward B Lee, David J Irwin, Murray Grossman, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowski
We aimed to determine patterns of α-synuclein (α-syn) pathology in multiple system atrophy (MSA) using 70-µm-thick sections of 20 regions of the central nervous system of 37 cases with striato-nigral degeneration (SND) and 10 cases with olivo-ponto-cerebellar atrophy (OPCA). In SND cases with the shortest disease duration (phase 1), α-syn pathology was observed in striatum, lentiform nucleus, substantia nigra, brainstem white matter tracts, cerebellar subcortical white matter as well as motor cortex, midfrontal cortex, and sensory cortex...
September 7, 2018: Journal of Neuropathology and Experimental Neurology
Jennifer W Koehler, Andrew D Miller, C Ryan Miller, Brian Porter, Kenneth Aldape, Jessica Beck, Daniel Brat, Ingrid Cornax, Kara Corps, Chad Frank, Caterina Giannini, Craig Horbinski, Jason T Huse, M Gerard O'Sullivan, Daniel R Rissi, R Mark Simpson, Kevin Woolard, Joanna H Shih, Christina Mazcko, Mark R Gilbert, Amy K LeBlanc
The National Cancer Institute-led multidisciplinary Comparative Brain Tumor Consortium (CBTC) convened a glioma pathology board, comprising both veterinarian and physician neuropathologists, and conducted a comprehensive review of 193 cases of canine glioma. The immediate goal was to improve existing glioma classification methods through creation of a histologic atlas of features, thus yielding greater harmonization of phenotypic characterization. The long-term goal was to support future incorporation of clinical outcomes and genomic data into proposed simplified diagnostic schema, so as to further bridge the worlds of veterinary and physician neuropathology and strengthen validity of the dog as a naturally occurring, translationally relevant animal model of human glioma...
August 27, 2018: Journal of Neuropathology and Experimental Neurology
Junko Ito, Tetsuro Shimada, Mari Tada, Hiroshi Shimizu, Masatoshi Wakabayashi, Akio Yokoseki, Osamu Onodera, Hitoshi Takahashi, Akiyoshi Kakita
We report the clinicopathologic features of 2 unrelated patients with sporadic amyotrophic lateral sclerosis (SALS) supported by tracheostomy and invasive ventilation (TIV) who were able to maintain communication ability for more than 30 years after disease onset. In both cases, the age at onset was younger than the mean, initially the progression of muscle weakness was consistent with that in the majority of SALS patients, and TIV became necessary several years after disease onset. Thereafter, however, their neurologic deterioration slowed and the patients were able to operate computers by facial movements for several decades...
August 21, 2018: Journal of Neuropathology and Experimental Neurology
Patrick Süß, Florian Volz, Christine Lang, Ori Staszewksi, Gabriele Palmedo, Christian A Taschner, Christian Scheiwe, Philipp Kurz, Thomas Mentzel, Marco Prinz
Epithelioid hemangioendothelioma (EHE) is a rare vascular neoplasm predominantly occurring in the soft tissue. A majority of EHE cases is driven by a WW domain containing transcription regulator protein 1 (WWTR1)-calmodulin-binding transcription activator 1 (CAMTA1) gene fusion. The clinical course of EHE ranges from long-term favorable to rapidly aggressive. Few cases of intracranial EHE have been reported, none of which has been molecularly proven. We report a case of left parietal meningeal EHE, which was resected 15 years after initial radiological detection...
July 10, 2018: Journal of Neuropathology and Experimental Neurology
Noemí De Luna, Xavier Suarez-Calvet, Maialen Garicano, Esther Fernandez-Simon, Ricardo Rojas-García, Jordi Diaz-Manera, Luis Querol, Isabel Illa, Eduard Gallardo
The human rhabdomyosarcoma cell line TE671 has been used extensively to study different aspects of muscle biology. However, its ability to differentiate and form myotubes has not been explored. Here, we examined muscle differentiation when we specifically stopped proliferation of human TE671 (WT-TE671) cells by using 1,4-diamino-2,3-dicyano-1,4-bis[2-aminophenylthio]butadiene (U0126), an MAPK inhibitor. Our data show that treated cells initiated fusion, and myotube formation and that expression levels of dysferlin and myogenin were increased, whereas those of pax7 were decreased...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Anand Krishnan, Sudha Bhavanam, Douglas Zochodne
The intricate interactions between neurons, glial, and inflammatory cells within peripheral ganglia are physiologically important, but not well explored. Here, we show that adult dorsal root ganglia (DRG) contain populations of self-renewing cells, collectively referred as DRG resident cycling cells (DRCCs), that are active not only in "quiescent" ganglia but also accelerate their turnover in response to distal axotomy. An unexpected proportion of DRCCs were resident macrophages. These cells closely accompanied, and aligned with recycling satellite glial cells (SGCs) that were juxtaposed to sensory neurons and possessed stem cell-like properties...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
J Stephen Nix, Michael C Haffner, Sama Ahsan, Jessica Hicks, Angelo M De Marzo, Jaishri Blakeley, Eric H Raabe, Fausto J Rodriguez
Malignant peripheral nerve sheath tumors (MPNST) are aggressive spindle cell neoplasms that may occur sporadically, often in association with radiation exposure, or in the clinical context of Neurofibromatosis type 1. MPNST are known to harbor genetic alterations affecting the function of polycomb repressive complex 2 (PRC2), resulting in profound changes to global H3K27me3 levels. Recent evidence suggests a link between the polycomb complex and DNA methylation. Given the established epigenetic alterations found in MPNST, we aimed to further explore global methylation changes including 5-methylcystosine (5mC), 5-hydroxymethylcytosine (5hmC), and H3K27me3 levels using previously validated immunolabeling protocols in a representative cohort of 28 peripheral nerve sheath tumors (MPNST [n = 8], localized cutaneous neurofibroma [n = 10], and plexiform neurofibroma [n = 10])...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Linda K Friedman, Joann P Wongvravit
Anticonvulsant effects of cannabidiol (CBD), a nonpsychoactive cannabinoid, have not been investigated in the juvenile brain. We hypothesized that CBD would attenuate epileptiform activity at an age when the brain first becomes vulnerable to neurotoxicity and social/cognitive impairments. To induce seizures, kainic acid (KA) was injected either into the hippocampus (KAih) or systemically (KAip) on postnatal (P) day 20. CBD was coadministered (KA + CBDih, KA + CBDip) or injected 30 minutes postseizure onset (KA/CBDih, KA/CBDip)...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Joo-Yeon Engelen-Lee, Merel M Koopmans, Matthijs C Brouwer, Eleonora Aronica, Diederik van de Beek
Listeria monocytogenes meningitis is the third most common cause of bacterial meningitis in adults and has high mortality and morbidity rates. We describe the clinical course and score brain pathology of 5 patients who died of listeria meningitis. All patients were immunocompromised and ages ranged between 48 and 76 years. Three cases were confirmed by cerebrospinal fluid culture; one was confirmed by brain culture; and one diagnosis was based on a positive blood culture and neuropathological findings. Mild inflammation of meningeal arteries was found in 3 of 5 cases (60%)...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Sabrina Rossi, Monica Brenca, Lucia Zanatta, Elena Trincia, Angela Guerriero, Cristina Pizzato, Alessandro Fiorindi, Elisabetta Viscardi, Felice Giangaspero, Roberta Maestro, Angelo Paolo Dei Tos, Caterina Giannini
SMARCB1 inactivation is a well-established trigger event in atypical teratoid/rhabdoid tumor. Recently, a role for SMARCB1 inactivation has emerged as a mechanism of clonal evolution in other tumor types, including rare brain tumors. We describe an unusual malignant intra-axial SMARCB1-deficient spindle cell desmoplastic neoplasm, occurring in a 6-year-old child with meningioangiomatosis and a long history of seizures. Striking features of the tumor were a storiform pattern and strong CD34 expression. Undifferentiated round cell areas with isolated rhabdoid cells showing high mitotic index and focal necrosis with INI1 expression loss were present...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Malgorzata Ziemka-Nalecz, Joanna Jaworska, Joanna Sypecka, Teresa Zalewska
Understanding the contribution of imbalance in protein acetylation levels and dysfunction of transcription to neurodegenerative diseases provides the rationale for the use of epigenetic modulators such as histone deacetylase (HDAC) inhibitors to combat neurodegenerative conditions. It is now widely recognized that various low-molecular weight HDAC inhibitors are broadly neuroprotective, preventing or delaying neuronal death and dysfunction in many rodent models of neurodegeneration. The beneficial effects result in part from modifications of histones and nonhistone proteins...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Vincenzo Donadio, Alex Incensi, Francesca Del Sorbo, Giovanni Rizzo, Rossella Infante, Cesa Scaglione, Nicola Modugno, Enrico Fileccia, Antonio E Elia, Federica Cencini, Rocco Liguori
This study aimed to investigate phosphorylated α-synuclein (p-syn) in autonomic skin nerves of Parkinson disease (PD) patients with and without orthostatic hypotension (OH). We studied 28 PD patients with normal corrected Mini-Mental State Examination including 14 patients with neurogenic OH (PD + OH) and 14 matched patients did not complain of OH (PD - OH); 7 of whom were re-evaluated over a follow-up period (4 ± 2 years). Skin biopsy was performed in proximal and distal sites. PD + OH patients showed a higher p-syn deposition than PD - OH, with widespread autonomic cholinergic and adrenergic skin nerve involvement...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
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October 1, 2018: Journal of Neuropathology and Experimental Neurology
Eliisa Ollikainen, Riikka Tulamo, Salla Kaitainen, Petri Honkanen, Satu Lehti, Timo Liimatainen, Juha Hernesniemi, Mika Niemelä, Petri T Kovanen, Juhana Frösen
Saccular intracranial aneurysm (sIA) rupture is often fatal. Rupture-prone sIA walls are infiltrated by macrophages expressing hemoglobin-receptor CD163, suggesting a role for erythrocyte lysis in the degenerative remodeling predisposing to rupture. We therefore studied erythrocyte remnants in 16 unruptured and 20 ruptured sIA walls using histology and immunohistochemistry. Glycophorin A (GPA), an erythrocyte membrane protein, was present in 34/36 (94%) sIA walls and correlated with loss of αSMA+ cells, reflecting loss of mural smooth muscle cells ([SMCs]; r = -0...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Yuta Takaichi, Yasuhisa Ano, James K Chambers, Kazuyuki Uchida, Akihiko Takashima, Hiroyuki Nakayama
The accumulation of specific phosphorylated protein aggregates in the brain is a hallmark of severe neurodegenerative disorders. Specifically, hyperphosphorylated tau (hp-tau) accumulates in Alzheimer disease, frontotemporal dementia with Parkinsonism linked to chromosome 17, and progressive supranuclear palsy; furthermore, phosphorylated α-synuclein (p-αSyn) accumulates in Parkinson disease, dementia with Lewy bodies, and multiple system atrophy. Moreover, codeposition of different pathological protein aggregates is common in the brains of individuals with neurodegenerative diseases...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Matthew Torre, Isaac H Solomon, Claire L Sutherland, Sarah Nikiforow, Daniel J DeAngelo, Richard M Stone, Henrikas Vaitkevicius, Ilene A Galinsky, Robert F Padera, Nikolaus Trede, Sandro Santagata
Chimeric antigen receptor (CAR) T cells are a new and powerful class of cancer immunotherapeutics that have shown potential for the treatment of hematopoietic malignancies. The tremendous promise of this approach is tempered by safety concerns, including potentially fatal neurotoxicity, sometimes but not universally associated with cytokine release syndrome. We describe the postmortem examination of a brain from a 21-year-old patient with relapsed pre-B cell acute lymphoblastic leukemia (ALL) who died from fulminant cerebral edema following CAR T-cell infusion...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
Thomas G Beach, Geidy E Serrano, Thomas Kremer, Marta Canamero, Sebastian Dziadek, Hadassah Sade, Pascal Derkinderen, Anne-Gaëlle Corbillé, Franck Letournel, David G Munoz, Charles L White, Julie Schneider, John F Crary, Lucia I Sue, Charles H Adler, Michael J Glass, Anthony J Intorcia, Jessica E Walker, Tatiana Foroud, Christopher S Coffey, Dixie Ecklund, Holly Riss, Jennifer Goßmann, Fatima König, Catherine M Kopil, Vanessa Arnedo, Lindsey Riley, Carly Linder, Kuldip D Dave, Danna Jennings, John Seibyl, Brit Mollenhauer, Lana Chahine
Immunohistochemical (IHC) α-synuclein (Asyn) pathology in peripheral biopsies may be a biomarker of Parkinson disease (PD). The multi-center Systemic Synuclein Sampling Study (S4) is evaluating IHC Asyn pathology within skin, colon and submandibular gland biopsies from 60 PD and 20 control subjects. Asyn pathology is being evaluated by a blinded panel of specially trained neuropathologists. Preliminary work assessed 2 candidate immunoperoxidase methods using a set of PD and control autopsy-derived sections from formalin-fixed, paraffin-embedded blocks of the 3 tissues...
September 1, 2018: Journal of Neuropathology and Experimental Neurology
Jason W Adams, Victor E Alvarez, Jesse Mez, Bertrand R Huber, Yorghos Tripodis, Weiming Xia, Gaoyuan Meng, Caroline A Kubilus, Kerry Cormier, Patrick T Kiernan, Daniel H Daneshvar, Alicia S Chua, Sarah Svirsky, Raymond Nicks, Bobak Abdolmohammadi, Laney Evers, Todd M Solomon, Jonathan D Cherry, Nurgul Aytan, Ian Mahar, Sherral Devine, Sanford Auerbach, Michael L Alosco, Christopher J Nowinski, Neil W Kowall, Lee E Goldstein, Brigid Dwyer, Douglas I Katz, Robert C Cantu, Robert A Stern, Rhoda Au, Ann C McKee, Thor D Stein
Traumatic brain injury has been associated with increased risk of Parkinson disease and parkinsonism, and parkinsonism and Lewy body disease (LBD) can occur with chronic traumatic encephalopathy (CTE). To test whether contact sports and CTE are associated with LBD, we compared deceased contact sports athletes (n = 269) to cohorts from the community (n = 164) and the Boston University Alzheimer disease (AD) Center (n = 261). Participants with CTE and LBD were more likely to have β-amyloid deposition, dementia, and parkinsonism than CTE alone (p < 0...
September 1, 2018: Journal of Neuropathology and Experimental Neurology
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