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Journal of Neuropathology and Experimental Neurology

Yuichi Riku, Hirohisa Watanabe, Mari Yoshida, Maya Mimuro, Yasushi Iwasaki, Michihito Masuda, Shinsuke Ishigaki, Masahisa Katsuno, Gen Sobue
In frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), recent studies have presumed relationships between cognitive declines and striatal dysfunctions. The striatum contributes to socio-cognitive functions by receiving glutamatergic inputs from the cerebral cortices. However, the vulnerability of these cortico-striatal inputs is unclear in these diseases. This study aimed to evaluate the glutamatergic inputs to the striatum from the cerebral cortices in patients with sporadic TDP-43-related FTLD (FTLD-TDP) and ALS (ALS-TDP)...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Jessica S Jarmasz, Duaa A Basalah, Albert E Chudley, Marc R Del Bigio
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Takahiro Takeda, Danielle Seilhean, Isabelle Le Ber, Stéphanie Millecamps, Véronique Sazdovitch, Kazuo Kitagawa, Toshiki Uchihara, Charles Duyckaerts
TDP-43-positive inclusions are present in the amygdala in frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) including amyotrophic lateral sclerosis. Behavioral abnormalities, one of the chief symptoms of FTLD, could be, at least partly, related to amygdala pathology. We examined TDP-43 inclusions in the amygdala of patients with sporadic FTLD/MND (sFTLD/MND), FTLD/MND with mutation of the C9ORF72 (FTLD/MND-C9) and FTLD with mutation of the progranulin (FTLD-GRN). TDP-43 inclusions were common in each one of these subtypes, which can otherwise be distinguished on topographical and genetic grounds...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Andrew M Donson, John Apps, Andrea M Griesinger, Vladimir Amani, Davis A Witt, Richard C E Anderson, Toba N Niazi, Gerald Grant, Mark Souweidane, James M Johnston, Eric M Jackson, Bette K Kleinschmidt-DeMasters, Michael H Handler, Aik-Choon Tan, Lia Gore, Alex Virasami, Jose Mario Gonzalez-Meljem, Thomas S Jacques, Juan Pedro Martinez-Barbera, Nicholas K Foreman, Todd C Hankinson
Pediatric adamantinomatous craniopharyngioma (ACP) is a highly solid and cystic tumor, often causing substantial damage to critical neuroendocrine structures such as the hypothalamus, pituitary gland, and optic apparatus. Paracrine signaling mechanisms driving tumor behavior have been hypothesized, with IL-6R overexpression identified as a potential therapeutic target. To identify potential novel therapies, we characterized inflammatory and immunomodulatory factors in ACP cyst fluid and solid tumor components...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Benoit J Gentil, Erin O'Ferrall, Colin Chalk, Luis F Santana, Heather D Durham, Rami Massie
Mutations in FIG4, coding for a phosphoinositol(3,5) bisphosphate 5' phosphatase and involved in vesicular trafficking and fusion, have been shown causing a recessive form of Charcot-Marie-Tooth (CMT). We have identified a novel intronic mutation in the FIG4 in a wheel-chair bound patient presenting with a severe form of CMT4J and provide a longitudinal study. Investigations indicated a demyelinating sensorimotor polyneuropathy with diffuse active denervation and severe axonal loss. Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Cornelia Ringer, Eberhard Weihe, Burkhard Schütz
Nonmotor neuron-related pathology is a feature of amyotrophic lateral sclerosis (ALS), both in patients and in animal models. There is emerging evidence that sensory systems (olfaction and vision) are affected in humans. Here, we asked whether such sensory neuropathology is recapitulated in the superoxide dismutase 1 (SOD1G93A) mouse model of ALS. Neuronal vacuolization in olfaction and vision pathways was assessed in tissue sections from presymptomatic and symptomatic disease stages, and compared to wild type...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Alicia Flores-Cuadrado, Isabel Ubeda-Bañon, Daniel Saiz-Sanchez, Alino Martinez-Marcos
Olfactory dysfunction and emotional impairment are nonmotor symptoms in Parkinson disease (PD). These symptoms might be correlated with the appearance of Lewy bodies and neurites (ubiquitin and α-synuclein aggregates) in the amygdala (Braak stage 3). α-Synucleinopathy in the amygdala has been studied only occasionally, and no data on cell types involved are available. This work aimed to analyze α-synuclein expression in the basolateral, central, and cortical amygdaloid nuclei in 5 PD patients (Braak stages 3-5) and 5 controls...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Charanjit Kaur, Gurugirijha Rathnasamy, Eng-Ang Ling
Microglia exist in different morphological forms in the developing brain. They show a small cell body with scanty cytoplasm with many branching processes in the grey matter of the developing brain. However, in the white matter such as the corpus callosum where the unmyelinated axons are loosely organized, they appear in an amoeboid form having a round cell body endowed with copious cytoplasm rich in organelles. The amoeboid cells eventually transform into ramified microglia in the second postnatal week when the tissue becomes more compact with the onset of myelination...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
Guoming Luan, Xiongfei Wang, Qing Gao, Yuguang Guan, Jing Wang, Jiahui Deng, Feng Zhai, Yin Chen, Tianfu Li
Rasmussen encephalitis (RE) is a rare neurological disorder characterized by unilateral inflammation of cerebral cortex and other structures, most notably the hippocampus, progressive cognitive deterioration, and pharmacoresistant focal epilepsy. The pathogenesis of RE with unilateral cortical atrophy and focal seizures is still enigmatic. Activation of adenosine A1 receptors (A1R) has been proven to prevent the spatial spread of seizures. We hypothesized that the epileptogenic mechanisms underlying RE are related to changes in neuronal A1R expression...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Fengyan Zhao, Yi Qu, Jianghu Zhu, Li Zhang, Lan Huang, Haiting Liu, Shiping Li, Dezhi Mu
Increasing evidence has demonstrated a vital role of microRNAs (miRNAs) in diverse biological processes. However, their functions in developing brain with hypoxia-ischemia (HI) remain largely unknown. Through a miRNA microarray analysis in a P10 rat model of cerebral HI, we found that miR-30d-5p was one of the most deregulated miRNAs in neonatal brains in response to HI. MiR-30d-5p was downregulated in a time-dependent manner in brain cortex after HI, which was accompanied by increased expression of Beclin1 both at transcript and protein levels...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Alyssa B Becker, Jiang Qian, Benjamin B Gelman, Michele Yang, Peter Bauer, Arnulf H Koeppen
In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine-adenine-adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion, point mutation, or insertion in the other. In 2 cases of compound heterozygous FA, the GAA expansion was inherited from the mother, and deletions from the father. Compound heterozygous FA patient 1, an 11-year-old boy (GAA, 896/c.11_12TCdel), had ataxia, chorea, cardiomyopathy, and diabetes mellitus...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Takayasu Mishima, Shunsuke Koga, Wen-Lang Lin, Koji Kasanuki, Monica Castanedes-Casey, Zbigniew K Wszolek, Shin J Oh, Yoshio Tsuboi, Dennis W Dickson
Perry syndrome is a rare atypical parkinsonism with depression, apathy, weight loss, and central hypoventilation caused by mutations in dynactin p150glued (DCTN1). A rare distal hereditary motor neuropathy, HMN7B, also has mutations in DCTN1. Perry syndrome has TAR DNA-binding protein of 43 kDa (TDP-43) inclusions as a defining feature. Other TDP-43 proteinopathies include amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with and without motor neuron disease (FTLD-MND). TDP-43 forms aggregates in neuronal cytoplasmic inclusions (NCIs), neuronal intranuclear inclusions, dystrophic neurites (DNs), as well as axonal spheroids, oligodendroglial cytoplasmic inclusions, and perivascular astrocytic inclusions (PVIs)...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Malgorzata Ziemka-Nalecz, Joanna Jaworska, Teresa Zalewska
Neonatal hypoxia-ischemia (HI) is one of the major causes of death and/or lifelong neurobehavioral and cognitive dysfunction. Undoubtedly, brain damage following HI insult is a complex process with multiple contributing mechanisms and pathways resulting in both early and delayed injury. It is increasingly recognized that one of the leading pathogenic factors of neonatal brain damage is inflammation, induced by activation of the central and peripheral immune system. Immune responses are induced within minutes and can expand for weeks and even months after the insult...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Yvonne Schweizer, Zsolt Meszaros, David T W Jones, Christian Koelsche, Miream Boudalil, Petra Fiesel, Daniel Schrimpf, Rosario M Piro, Stefanie Brehmer, Andreas von Deimling, Ulrich Kerl, Marcel Seiz-Rosenhagen, David Capper
Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant, pediatric brain tumor typically arising de novo. Inactivation of SMARCB1 is a defining molecular event. We present here a rare case of an adult (35 years) low-grade SMARCB1-deleted brain tumor with transition into prototypical AT/RT over 14 years. Molecular analysis was performed for 3 tumor presentations including copy number analysis, DNA methylation analysis (450k), and whole exome sequencing. We detected the identical somatic SMARCB1 deletion at all 3 time-points...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Drew Pratt, Stefania Pittaluga, Maryknoll Palisoc, Patricia Fetsch, Liqiang Xi, Mark Raffeld, Mark R Gilbert, Martha Quezado
Glioblastoma is an aggressive, often recalcitrant disease. In the majority of cases, prognosis is dismal and current therapies only moderately prolong survival. Immunotherapy is increasingly being recognized as an effective treatment modality. CD70 is a transmembrane protein that shows restricted expression in tissue but has been described in various malignancies. Therapeutic targeting of CD70 has demonstrated antitumor efficacy and is in clinical trials. Here, we sought to characterize CD70 expression in a large cohort of gliomas (n = 205) using tissue microarrays...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Daniel J Shepherd, Shih-Yen Tsai, Stefanie P Cappucci, Joanna Y Wu, Robert G Farrer, Gwendolyn L Kartje
Ischemic stroke is a leading cause of adult disability with no pharmacological treatments to promote the recovery of lost function. Neutralizing antibodies against the neurite outgrowth inhibitor Nogo-A have emerged as a promising treatment for subacute and chronic stroke in animal models; however, whether anti-Nogo-A treatment affects poststroke neurogenesis remains poorly understood. In this study, we confirmed expression of Nogo-A by neuroblasts in the adult rat subventricular zone (SVZ), a major neurogenic niche; however, we found no evidence that Nogo-A was expressed at the surface of these cells...
August 1, 2017: Journal of Neuropathology and Experimental Neurology
Valeria Guglielmi, Dominika Nowis, Martina Tinelli, Manuela Malatesta, Laura Paoli, Matteo Marini, Paolo Manganotti, Radoslaw Sadowski, Grzegorz M Wilczynski, Vittorio Meneghini, Giuliano Tomelleri, Gaetano Vattemi
Multiple myeloma (MM) accounts for ∼13% of all hematologic malignancies. Bortezomib treatment is effective in MM, but can be complicated with neurological side effects. We describe a patient with symptomatic MM who had a reversible metabolic myopathy associated with bortezomib administration and pathologically characterized by excessive storage of lipid droplets together with mitochondrial abnormalities. In a single-center prospective study, 14 out of 24 patients with symptomatic MM were treated with bortezomib and, among these, 7 developed muscular signs and/or symptoms...
July 1, 2017: Journal of Neuropathology and Experimental Neurology
Scott Ryall, Anthony Arnoldo, Rahul Krishnatry, Matthew Mistry, Kangzi Khor, Javal Sheth, Cino Ling, Stephie Leung, Michal Zapotocky, Ana Guerreiro Stucklin, Alvaro Lassaletta, Mary Shago, Uri Tabori, Cynthia E Hawkins
Previous studies identified recurrent fusion and duplication events in pediatric low-grade glioma (pLGG). In addition to their role in diagnosis, the presence of these events aid in dictating therapy and predicting patient survival. Clinically, BRAF alterations are most commonly identified using fluorescent in situ hybridization (FISH). However, this method is costly, labor-intensive and does not identify nonBRAF events. Here, we evaluated the NanoString nCounter gene expression system for detecting 32 of the most commonly reported fusion/duplication events in pLGG...
July 1, 2017: Journal of Neuropathology and Experimental Neurology
Vladimir Amani, Andrew M Donson, Seth C Lummus, Eric W Prince, Andrea M Griesinger, Davis A Witt, Todd C Hankinson, Michael H Handler, Kathleen Dorris, Rajeev Vibhakar, Nicholas K Foreman, Lindsey M Hoffman
Ependymoma (EPN) is a common brain tumor of childhood that, despite standard surgery and radiation therapy, has a relapse rate of 50%. Clinical trials have been unsuccessful in improving outcome by addition of chemotherapy, and identification of novel therapeutics has been hampered by a lack of in vitro and in vivo models. We describe 2 unique EPN cell lines (811 and 928) derived from recurrent intracranial metastases. Both cell lines harbor the high-risk chromosome 1q gain (1q+) and a derivative chromosome 6, and both are classified as molecular group A according to transcriptomic analysis...
July 1, 2017: Journal of Neuropathology and Experimental Neurology
Stephen J DeArmond
No abstract text is available yet for this article.
July 1, 2017: Journal of Neuropathology and Experimental Neurology
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