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Journal of Neuropathology and Experimental Neurology

Joseph O Ojo, Paige Leary, Caryln Lungmus, Moustafa Algamal, Benoit Mouzon, Corbin Bachmeier, Michael Mullan, William Stewart, Fiona Crawford
Repetitive mild traumatic brain injury (r-mTBI) is a risk factor for Alzheimer disease (AD). The precise nature of how r-mTBI leads to, or precipitates, AD pathogenesis remains unclear. In this study, we explore subchronic effects of chronic r-mTBI (12-impacts) administered over 1-month in aged-PS1/APP mice and littermate controls. We investigate specific mechanisms that may elucidate the molecular link between AD and r-mTBI, focusing primarily on amyloid and tau pathology, amyloid processing, glial activation states, and associated clearance mechanisms...
November 3, 2018: Journal of Neuropathology and Experimental Neurology
Mao Zhang, Xiaofang Cheng, Ruozhi Dang, Weiwei Zhang, Jie Zhang, Zhongxiang Yao
Cerebral energy metabolism in Alzheimer disease (AD) has recently been given increasing attention. This study focuses on the alterations of cerebral lactate metabolism in the double-transgenic amyloid precursor protein/presenilin 1 (APP/PS1) mouse model of AD. Immunofluorescence staining and Western blotting analysis were used to identify the alterations of lactate content and lactate transporters (MCT1, MCT2, MCT4) in APP/PS1 mouse brains, which display amyloid beta plaques, reduced amounts of neurons and oligodendrocytes, and increased quantity of astrocytes...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
Rainiero Ávila-Polo, Edoardo Malfatti, Xavière Lornage, Chrystel Cheraud, Isabelle Nelson, Juliette Nectoux, Johann Böhm, Raphaël Schneider, Carola Hedberg-Oldfors, Bruno Eymard, Soledad Monges, Fabiana Lubieniecki, Guy Brochier, Mai Thao Bui, Angeline Madelaine, Clémence Labasse, Maud Beuvin, Emmanuelle Lacène, Anne Boland, Jean-François Deleuze, Julie Thompson, Isabelle Richard, Ana Lía Taratuto, Bjarne Udd, France Leturcq, Gisèle Bonne, Anders Oldfors, Jocelyn Laporte, Norma Beatriz Romero
Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes presenting pathogenic autosomal dominant or autosomal recessive (AR) mutations located in different TTN domains. We identified a consistent pattern characterized by diverse defects in oxidative staining with prominent nuclear internalization in congenital phenotypes (AR-CM) (n = 10), ± necrotic/regenerative fibers, associated with endomysial fibrosis and rimmed vacuoles (RVs) in AR early-onset Emery-Dreifuss-like (AR-ED) (n = 4) and AR adult-onset distal myopathies (n = 4), and cytoplasmic bodies (CBs) as predominant finding in hereditary myopathy with early respiratory failure (HMERF) patients (n = 5)...
October 25, 2018: Journal of Neuropathology and Experimental Neurology
Juan Eugenio Iglesias, Shauna Crampsie, Catherine Strand, Mohamed Tachrount, David L Thomas, Janice L Holton
Fluorinert (perfluorocarbon) represents an inexpensive option for minimizing susceptibility artifacts in ex vivo brain MRI scanning, and provides an alternative to Fomblin. However, its impact on fixed tissue and histological analysis has not been rigorously and quantitatively validated. In this study, we excised tissue blocks from 2 brain regions (frontal pole and cerebellum) of 5 formalin-fixed specimens (2 progressive supranuclear palsy cases, 3 controls). We excised 2 blocks per region per case (20 blocks in total), one of which was subsequently immersed in Fluorinert for a week and then returned to a container with formalin...
October 25, 2018: Journal of Neuropathology and Experimental Neurology
María García-Bonilla, María L García-Martín, M Carmen Muñoz-Hernández, Dolores Domínguez-Pinos, María I Martínez-León, Ana Peñalver, Laura Castilla, Francisco J Alonso, Javier Márquez, Kirill Shumilov, Ramón Hidalgo-Sánchez, Antonia Gutiérrez, Patricia Páez-González, Antonio J Jiménez
In congenital hydrocephalus, cerebrospinal fluid accumulation is associated with increased intracranial pressure (ICP), ischemia/hypoxia, metabolic impairment, neuronal damage, and astrocytic reaction. The aim of this study was to identify whether a metabolite profile revealing tissue responses according to the severity of hydrocephalus can be detected. The hyh mutant mouse used for this study exhibits 2 different forms of hydrocephalus, severe and moderate. In a comprehensive investigation into the 2 progressions of hydrocephalus, mice with severe hydrocephalus were found to have higher ICP and astrocytic reaction...
October 25, 2018: Journal of Neuropathology and Experimental Neurology
Randy H Van Ommeren, Andrew F Gao, Susan I Blaser, David A Chitayat, Lili-Naz Hazrati
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consanguineous Chinese parents who presented with hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures, and worsening episodic apnea, leading to intubation and eventually death at 10 weeks of age. Whole exome sequencing revealed homozygous BRAT1 mutation, c...
October 20, 2018: Journal of Neuropathology and Experimental Neurology
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Dagmar Rudzki, Julia Wanschitz, Sylvia Boesch
Friedreich's Ataxia (FRDA) is caused by a homozygous intronic GAA expansion in the FXN gene. FRDA affects primarily the peripheral nervous system (PNS) with cumulative evidence from postmortem studies and in vitro models suggesting a developmental component of its pathology. In the present study, we aimed at gaining further insight in the PNS involvement in FRDA by investigating small nerve fibers in vivo. For this purpose, we evaluated the intraepidermal nerve fiber (IENF) density in skin-biopsies of the lower leg and applied clinical assessments of small fiber function (painDETECT, quantitative sensory testing) in 17 FRDAs...
October 9, 2018: Journal of Neuropathology and Experimental Neurology
Gabriel S Walt, Hannah M Burris, Christopher B Brady, Keith R Spencer, Victor E Alvarez, Bertrand R Huber, Latease Guilderson, Nazifa Abdul Rauf, Derek Collins, Tarnjit Singh, Rebecca Mathias, James G Averill, Sean E Walker, Ian Robey, Ann C McKee, Neil W Kowall, Thor D Stein
Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disorder linked to repetitive head impacts and has been associated with amyotrophic lateral sclerosis (ALS), a fatal, degenerative neuromuscular disorder. The Department of Veterans Affairs Biorepository Brain Bank (VABBB) is a tissue repository that collects antemortem disease progression data and postmortem central nervous system tissue from veterans with ALS. We set out to determine the frequency of co-morbid ALS and CTE in the VABBB cohort and to characterize the clinical, genetic, and pathological distinctions between participants with ALS only and those with both ALS and CTE (ALS+CTE)...
October 9, 2018: Journal of Neuropathology and Experimental Neurology
Isaac H Solomon, Hojun Li, Leslie A Benson, Lauren A Henderson, Barbara A Degar, Mark P Gorman, Christine N Duncan, Hart G Lidov, Sanda Alexandrescu
Familial hemophagocytic lymphohistiocytosis (HLH) is an immune hyperactivation syndrome caused by mutations in genes associated with cytotoxic T-cell and NK-cell function. While neurological manifestations frequently accompany systemic inflammation at initial presentation, isolated central nervous system (CNS) involvement is rare, and the histological correlates are not well described. We present 3 patients (ages 5, 6, and 7 years) with CNS-isolated familial HLH, who presented with a variety of neurological symptoms and underwent brain biopsies for multifocal enhancing supratentorial and infratentorial lesions...
September 22, 2018: Journal of Neuropathology and Experimental Neurology
Michael A Paolini, Benjamin R Kipp, William R Sukov, Sarah M Jenkins, Emily G Barr Fritcher, Derick Aranda, Karen S SantaCruz, Sadeq Al-Dandan, Pete Fisher, William C McDonald, Charles P Bondurant, Grant Van Dyke Darkow, Caterina Giannini, Joseph E Parisi, Mark E Jentoft, Aditya Raghunathan
Atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant CNS neoplasms that typically occur in children <2 years of age. These are characterized by high-grade histologic features and mutations of the INI1/SMARCB1 gene readily detected by loss of expression by immunohistochemistry. Among adults, the majority of AT/RTs occurs in the cerebral hemispheres. A small number of adult AT/RTs involving the sellar and suprasellar region reported in the literature suggest a distinct clinical course for this group...
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
Charlotte G H M de Jong, Mirjana Stancic, Tineke H Pinxterhuis, Jack van Horssen, Anne-Marie van Dam, Hans-Joachim Gabius, Wia Baron
Neuron-derived molecules are potent regulators of oligodendrocyte differentiation and myelination during brain development and upon demyelination. Their analysis will thus contribute to understanding remyelination failure in demyelinating diseases, such as multiple sclerosis (MS). Previously, we have identified neuronal galectin-4 as a novel negative soluble regulator in the timing of developmental myelination. Here, we investigated whether galectin-4 is re-expressed in axons upon demyelination to regulate the timing of remyelination...
August 24, 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
Matthias N Ungerer, Ricarda Diem, Arne Wrede, Kristin Huang, Stefan Hähnel, Wolfgang Wick, Frank Winkler
We report a case of a rapidly progressing, relapsing-remitting, steroid-responsive granulocytic encephalitis without any signs of peripheral nervous system or other organ involvement. It apparently had an immune-mediated etiology that could not be attributed to any known disease entity. A 22-year-old man presented with rapidly progressive severe neurological symptoms caused by encephalitis. Examination of the cerebrospinal fluid as well as brain biopsy showed extensive accumulation of neutrophilic granulocytes with no hints of an infectious agent...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
William T Harrison, Bruce Lecky, Christine M Hulette
Granulomatous amebic encephalitis is a rare necrotizing infection of the CNS that occurs most commonly in immunocompromised individuals and is usually fatal. It is difficult to diagnose as the clinical symptoms and radiographic findings are often mistaken for other bacterial, viral, fungal, or protozoan infections. Herein, we present the case of a 69-year-old heart transplant recipient who suffered fulminant neurological decline ∼5 months after transplant. Extensive radiographic and laboratory testing did not provide a definite anatomic diagnosis and, despite aggressive clinical treatment, he died...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
Fangzhou Li, Takashi Ayaki, Takakuni Maki, Nobukatsu Sawamoto, Ryosuke Takahashi
Multiple system atrophy (MSA) is a neurodegenerative disease characterized by parkinsonism, ataxia, and autonomic dysfunction. Microglial infiltration is an important mediator in MSA. The nucleotide-binding domain, leucine-rich repeats-containing family, pyrin domain-containing-3 (NLRP3) inflammasome complex, comprising NLRP3, apoptotic speck protein containing a caspase recruitment domain (ASC), and cysteine aspartic acid protease 1 (Caspase 1), regulates microglial inflammation in several neurodegenerative diseases...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
Danqing Wang, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), usually referred to as hereditary diffuse leukoencephalopathy with spheroids or pigmentary orthochromatic leukodystrophy, is genetically caused by CSF1R mutations. AARS2 was recently confirmed to be another causative gene in a series of CSF1R-negative ALSP cases. We report a case of adult-onset leukoencephalopathy with ALSP with AARS2 variants. A 34-year-old woman presented with 2 years of motor and cognitive deterioration with severely impaired cortical functions and rigid spasticity...
November 1, 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...
November 1, 2018: 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...
November 1, 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...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
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