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Testing SIPA1L2 as a modifier of CMT1A using mouse models J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-03-13 George C Murray, Timothy J Hines, Abigail L D Tadenev, Isaac Xu, Stephan Züchner, Robert W Burgess
Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating peripheral neuropathy caused by the duplication of peripheral myelin protein 22 (PMP22), leading to muscle weakness and loss of sensation in the hands and feet. A recent case-only genome-wide association study of CMT1A patients conducted by the Inherited Neuropathy Consortium identified a strong association between strength of foot dorsiflexion
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A role for immunohistochemical stains in perinatal brain autopsies J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-03-05 Angela N Viaene
Identification of central nervous system injury is a critical part of perinatal autopsies; however, injury is not always easily identifiable due to autolysis and immaturity of the developing brain. Here, the role of immunohistochemical stains in the identification of perinatal brain injury was investigated. Blinded semiquantitative scoring of injury was performed on sections of frontal lobe from 76
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Lateral geniculate body is spared of tau pathology in Pick disease J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-27 Koping Chang, Alexander Barrett, Khoa Pham, Juan C Troncoso
The pathobiology of tau is of great importance for understanding the mechanisms of neurodegeneration in aging and age-associated disorders such as Alzheimer disease (AD) and frontotemporal dementias. It is critical to identify neuronal populations and brain regions that are vulnerable or resistant to tau pathological changes. Pick disease (PiD) is a three-repeat (3R) tauopathy that belongs to the group
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METTL3 confers protection against mitochondrial dysfunction and cognitive impairment in an Alzheimer disease mouse model by upregulating Mfn2 via N6-methyladenosine modification J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-26 Hao Chen, Huaijie Xing, Changhui Zhong, Xuejuan Lin, Ruipeng Chen, Ning Luo, Lijun Chen, Yusheng Huang
Mitofusin 2 (MFN2) has been found to be downregulated in patients with Alzheimer disease (AD) but little is known about its roles in the pathogenesis of AD. We explored the mechanism of N6-methyladenosine (m6A) methylation of Mfn2 in hippocampal mitochondrial dysfunction in an AD mouse model. APP/PS1 transgenic mice underwent stereotaxic injection of adeno-associated viruses and their behaviors were
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Characterization of pediatric non-hematopoietic tumor metastases to the central nervous system: A single institution review J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-13 John Newman, Nalin Leelatian, Jiancong Liang
Central nervous system (CNS) metastases represent a small portion of pediatric CNS neoplasms and data surrounding this condition with high morbidity is scarce. Single institutional archival institutional pathology records between 1999 and 2022 were searched for patients over 21 years old and younger with CNS, dura, cranial nerve, CSF, or leptomeningeal metastases; 41 cases were identified. We documented
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Impact of incidental synucleinopathy in mild cognitive impairment due to Alzheimer disease J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-12 Jahnavi Shriram, Michael Malek-Ahmadi, Chase Irwin, Marwan Sabbagh
Recent evidence suggests that the presence of α-synuclein Lewy bodies (LBs) correlates with accelerated disease progression in patients with Alzheimer disease (AD) but it is unclear whether this effect is also exerted in the mild cognitive impairment (MCI) phase of AD. We sought to determine whether incidental LB pathology in patients with MCI due to AD is associated with a faster rate of cognitive
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Altered 5-HT2A/C receptor binding in the medulla oblongata in the sudden infant death syndrome (SIDS): Part II. Age-associated alterations in serotonin receptor binding profiles within medullary nuclei supporting cardiorespiratory homeostasis J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-07 Kevin J Cummings, James C Leiter, Felicia L Trachtenberg, Benjamin W Okaty, Robert A Darnall, Elisabeth A Haas, Ronald M Harper, Eugene E Nattie, Henry F Krous, Othon J Mena, George B Richerson, Susan M Dymecki, Hannah C Kinney, Robin L Haynes
The failure of chemoreflexes, arousal, and/or autoresuscitation to asphyxia may underlie some sudden infant death syndrome (SIDS) cases. In Part I, we showed that some SIDS infants had altered 5-hydroxytryptamine (5-HT)2A/C receptor binding in medullary nuclei supporting chemoreflexes, arousal, and autoresuscitation. Here, using the same dataset, we tested the hypotheses that the prevalence of low
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Long noncoding RNA KCNQ1OT1 aggravates cerebral infarction by regulating PTBT1/SIRT1 via miR-16-5p J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-07 Yuanming Jiang, Chi Ma, Yuxiu Guan, Wenqi Yang, Jiaqi Yu, Hanfei Shi, Zihang Ding, Zhuobo Zhang
Cerebral infarction (CI) is one of the leading causes of disability and death. LncRNAs are key factors in CI progression. Herein, we studied the function of long noncoding RNA KCNQ1OT1 in CI patient plasma samples and in CI models. Quantitative real-time PCR and Western blotting tested gene and protein expressions. The interactions of KCNQ1OT1/PTBP1 and miR-16-5p were analyzed using dual-luciferase
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Chronic traumatic encephalopathy and aging-related tau astrogliopathy in community-dwelling older persons with and without moderate-to-severe traumatic brain injury J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-02-01 Sonal Agrawal, Sue E Leurgans, Lisa L Barnes, Kristen Dams-O’Connor, Jesse Mez, David A Bennett, Julie A Schneider
This study examined the frequency of chronic traumatic encephalopathy-neuropathologic change (CTE-NC) and aging-related tau astrogliopathy (ARTAG) in community-dwelling older adults and tested the hypothesis that these tau pathologies are associated with a history of moderate-to-severe traumatic brain injury (msTBI), defined as a TBI with loss of consciousness >30 minutes. We evaluated CTE-NC, ARTAG
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Angiogenic responses are enhanced by recombinant human erythropoietin in a model of periventricular white matter damage of neonatal rats through EPOR-ERK1 signaling J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-24 Lihua Zhu, Qichao Yuan, Chunping Jing, Lingxian Sun, Li Jiang
Recombinant human erythropoietin (rh-EPO) has been shown to stimulate neurogenesis and angiogenesis, both of which play crucial roles in the repair of brain injuries. Previously, we observed that rh-EPO treatment effectively reduced brain damage and enhanced angiogenesis in a neonatal rat model of periventricular white matter damage (PWMD). The objective of this research is to investigate the specific
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Restoration of injured motoneurons reduces microglial proliferation in the adult rat facial nucleus J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-24 Takashi Ishijima, Kazuyuki Nakajima
In the axotomized facial nucleus (axotFN), the levels of choline acetyltransferase, vesicular acetylcholine transporter, and gamma amino butyric acid A receptor α1 are decreased, after which the microglia begin to proliferate around injured motoneuron cell bodies. We conjectured that an injury signal released from the injured motoneurons triggers the microglial proliferation in the axotFN. However
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“Hemispheric pilocytic astrocytoma” revisited: A comprehensive clinicopathological and molecular series emphasizing their overlap with other glioneuronal tumors J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-18 Cassandra Mariet, Jacques Grill, Yassine Ajlil, David Castel, Volodia Dangouloff-Ros, Nathalie Boddaert, Alexandra Meurgey, Daniel Pissaloux, Romain Appay, Raphaël Saffroy, Stéphanie Puget, Thomas Blauwblomme, Kévin Beccaria, Lauren Hasty, Valérie Rigau, Thomas Roujeau, Aude Aline-Fardin, Fabrice Chrétien, Alice Métais, Pascale Varlet, Arnault Tauziède-Espariat
Pilocytic astrocytomas (PA) typically exhibit distinct clinical, radiological, histopathological, and genetic features. DNA-methylation profiling distinguishes PA according to their location (infratentorial, midline, hemispheric, or spinal). In the hemispheric location, distinguishing PA from glioneuronal tumors remains a common diagnostic challenge for neuropathologists. Furthermore, the current version
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YTHDF2-regulated matrilin-3 mitigates post-reperfusion hemorrhagic transformation in ischemic stroke via the PI3K/AKT pathway J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-17 Hanze Chen, Siping Guo, Runnan Li, Lihui Yang, Rui Wang, Yasi Jiang, Yonggang Hao
Hemorrhagic transformation can complicate ischemic strokes after recanalization treatment within a time window that requires early intervention. To determine potential therapeutic effects of matrilin-3, rat cerebral ischemia-reperfusion was produced using transient middle cerebral artery occlusion (tMCAO); intracranial hemorrhage and infarct volumes were assayed through hemoglobin determination and
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Persistence of Kii amyotrophic lateral sclerosis after the 2000s and its characteristic aging-related tau astrogliopathy J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-09 Kazumi Tsuji, Yoshiaki Nakayama, Junko Taruya, Hidefumi Ito
Kii amyotrophic lateral sclerosis (ALS) is a unique disease that occurs in the southern portion of the Kii Peninsula and exhibits a dual pathology of TAR DNA-binding protein of 43 kDa (TDP-43) proteinopathy and tauopathy. The incidence of ALS in this region was very high in the 1960s, briefly decreased through the 1980s, but began increasing again after 2000 with a change of high-concentration geographic
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A novel grading system combining histological grade and CDKN2A homozygous and hemizygous deletion to predict prognosis in IDH-mutant astrocytoma J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-04 Shaoyan Xi, Qitao Huang, Jing Zeng
Isocitrate dehydrogenase (IDH)-mutant astrocytoma with microvascular proliferation, necrosis, CDKN2A/B homozygous deletion, or any combination of these features corresponds to World Health Organization grade 4 according to current criteria. However, the prognostic significance of CDKN2A hemizygous deletion in IDH-mutant astrocytoma is not well established. We undertook a comprehensive study that included
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Whole-brain traumatic controlled cortical impact to the left frontal lobe: Magnetic resonance image-based texture analysis J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2024-01-02 Saleh T Alanezi, Waleed M Almutairi, Michelle Cronin, Oliviero Gobbo, Shane M O’Mara, Declan Sheppard, William T O’Connor, Michael D Gilchrist, Christoph Kleefeld, Niall Colgan
This research assesses the capability of texture analysis (TA) derived from high-resolution (HR) T2-weighted magnetic resonance imaging to identify primary sequelae following 1–5 hours of controlled cortical impact mild or severe traumatic brain injury (TBI) to the left frontal cortex (focal impact) and secondary (diffuse) sequelae in the right frontal cortex, bilateral corpus callosum, and hippocampus
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Characterization of cerebellar amyloid-β deposits in Alzheimer disease J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-12-20 Gianluca Lopez, Shino D Magaki, Christopher Kazu Williams, Annlia Paganini-Hill, Harry V Vinters
Cerebellar amyloid-β (Aβ) plaques are a component of the diagnostic criteria used in Thal staging and ABC scoring for Alzheimer disease (AD) neuropathologic change. However, Aβ deposits in this anatomic compartment are unique and under-characterized; and their relationship with other pathological findings are largely undefined. In 73 cases of pure or mixed AD with an A3 score in the ABC criteria, parenchymal
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Reliability assessment of methylthioadenosine phosphorylase immunohistochemistry as a surrogate biomarker for CDKN2A homozygous deletion in adult-type IDH-mutant diffuse gliomas J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-12-19 Fatma Gundogdu, Berrin Babaoglu, Figen Soylemezoglu
According to the 2021 World Health Organization classification of brain tumors, astrocytomas containing a CDKN2A/B homozygous deletion (HD) are designated as grade 4 even when no microvascular proliferation and/or necrosis is present. In this study, we aimed to investigate the relationship between CDKN2A HD and loss of methylthioadenosine phosphorylase (MTAP) expression in adult-type IDH-mutant gliomas
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Clinicopathologic features of a novel star-shaped transactive response DNA-binding protein 43 (TDP-43) pathology in the oldest old J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-12-12 Arenn F Carlos, Hiroaki Sekiya, Shunsuke Koga, Rodolfo G Gatto, Monica Castanedes Casey, Nha Trang Thu Pham, Irene Sintini, Mary M Machulda, Clifford R Jack, Val J Lowe, Jennifer L Whitwell, Leonard Petrucelli, R Ross Reichard, Ronald C Petersen, Dennis W Dickson, Keith A Josephs
Transactive response DNA-binding protein 43 (TDP-43) pathology is categorized as type A-E in frontotemporal lobar degeneration and as type α-β in Alzheimer disease (AD) based on inclusion type. We screened amygdala slides of 131 cases with varying ages at death, clinical/neuroimaging findings, and AD neuropathologic changes for TDP-43 pathology using anti-phospho-TDP-43 antibodies. Seven cases (5%)
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H3K27-altered diffuse midline gliomas with MAPK pathway alterations: Prognostic and therapeutic implications J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-12-01 Catherine Gestrich, Kristina Grieco, Hart G Lidov, Lissa C Baird, Katie P Fehnel, Kee Kiat Yeo, David M Meredith, Sanda Alexandrescu
Large-scale sequencing led to the identification of driver molecular alterations such as FGFR1 and BRAF in occasional diffuse midline gliomas (DMGs) H3K27-mutant but their significance has not been completely explored. We evaluated these associations in our institutional cohorts. We searched our archives for H3K2M7-mutant gliomas and analyzed the co-occurring genetic alterations. The demographics,
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Authors' response to: "Alexander disease genetics: Beyond GFAP exon sequencing?" J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-21 Abigail L Alexander,Swee Yang Lim,Lauren J Massingham,Oliver Phillips,Mary-Kathryn Chambers,John E Donahue
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Alexander disease genetics: Beyond GFAP exon sequencing? J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-21 Gert Cypers
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Heterogenous driving genetic events contribute to the dissemination of choroid plexus papilloma. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-21 Yuan Feng,Hao Xu,Xiaomu Hu,Jinsen Zhang,Xin Zhang,Xiaowen Wang,Yan Gong,Shenghan Peng,Ying Sun,Jiguang Wang,Wei Zhu,Wei Hua,Ying Mao
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METTL3-mediated maturation of miR-192-5p targets ATG7 to prevent Schwann cell autophagy in peripheral nerve injury. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Xing Liu,Jun Lv,Weilong Tang,Yuanbai Hu,Yiwei Wen,Hongtao Shen
The inhibition of miR-192-5p can promote nerve repair in rats with peripheral nerve injury (PNI) but the precise mechanisms underlying this effect remain unclear. Schwann cell (SC) autophagy mediated by autophagy-related gene (ATG) proteins has a key role in PNI but it is uncertain whether miR-192-5p affects the involvement of SC autophagy in PNI. In this study, we investigated the impact of methyltransferase-like
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Autopsy findings in a 6-month-old infant with rhabdoid tumor predisposition syndrome 1: Case report with literature review. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Yinan Hua,Kenneth E Youens,Eduardo Castro,Dapeng Wang,Parsa Hodjat,Yuan Shan
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High-throughput digital quantification of Alzheimer disease pathology and associated infrastructure in large autopsy studies. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Alifiya Kapasi,Jennifer Poirier,Ahmad Hedayat,Ashley Scherlek,Srabani Mondal,Tiffany Wu,John Gibbons,Lisa L Barnes,David A Bennett,Sue E Leurgans,Julie A Schneider
High-throughput digital pathology offers considerable advantages over traditional semiquantitative and manual methods of counting pathology. We used brain tissue from 5 clinical-pathologic cohort studies of aging; the Religious Orders Study, the Rush Memory and Aging Project, the Minority Aging Research Study, the African American Clinical Core, and the Latino Core to (1) develop a workflow management
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Progressive supranuclear palsy can mimic idiopathic normal pressure hydrocephalus: A case series. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Miki Kawazoe,Shunsuke Koga,Dennis W Dickson
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miR-15b-5p transcription mediated by CREB1 protects against inflammation and apoptosis in Parkinson disease models by inhibiting AXIN2 and activating Wnt/β-catenin. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Tianyi Liu,Guozhong Li
Parkinson disease (PD) is a major neurodegenerative disease that greatly undermines people's health and for which effective therapeutic strategies are currently limited. This study dissected the effects of expression changes of AXIN2, a modulator of the Wnt/beta-catenin signaling pathway, the transcription factor CREB1, and of the microRNA miR-15b-5p on apoptosis and the inflammatory response in a
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In severe ADNC, hippocampi with comorbid LATE-NC and hippocampal sclerosis have substantially more astrocytosis than those with LATE-NC or hippocampal sclerosis alone. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Dana M Niedowicz,Yuriko Katsumata,Peter T Nelson
Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) and hippocampal sclerosis of aging (HS-A) pathologies are found together at autopsy in ∼20% of elderly demented persons. Although astrocytosis is known to occur in neurodegenerative diseases, it is currently unknown how the severity of astrocytosis is correlated with the common combinations of pathologies in aging
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Synchronous contralateral low-grade oligodendroglioma and high-grade IDH-mutant astrocytoma. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Bartholomew White,Jean Filo,Eduardo Orrego-Gonzalez,Steven N Schwartz,Hemant Varma,Erik J Uhlmann,Rafael A Vega
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Validating MCM2 as a clinically relevant surrogate immunohistochemical marker for an aggressive meningioma molecular subtype. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Allison Shelbourn,Nicholas Nuechterlein,Carolina Angelica Parada,Jessica Eaton,Mallory Tucker,Manuel Ferreira,Patrick J Cimino
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Concurrent TERT promoter C228T and C250T mutations in diffuse gliomas: Rare occurrence of intratumoral heterogeneity. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-20 Alaa Koleilat,Vijay Kumar,Youssef Al Hmada,Dragana Milosevic,Gang Zheng,Maria Beatriz Lopes,Cristiane M Ida
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Cognitive symptoms progress with limbic-predominant age-related TDP-43 encephalopathy stage and co-occurrence with Alzheimer disease J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-15 Satomi Hiya, Carolina Maldonado-Díaz, Jamie M Walker, Timothy E Richardson
Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) is a neuropathologic entity characterized by transactive response DNA-binding protein of 43-kDa (TDP-43)-immunoreactive inclusions that originate in the amygdala and then progress to the hippocampi and middle frontal gyrus. LATE-NC may mimic Alzheimer disease clinically and often co-occurs with Alzheimer disease neuropathologic
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Whole gain of chromosome 19, not co-gain of chromosomes 19 and 20, characterizes a class of glioblastomas with more favorable outcomes. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-14 Nicholas Nuechterlein,Allison Shelbourn,Patrick J Cimino
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Translocator protein (TSPO) expression in neoplastic cells and tumor-associated macrophages in meningiomas J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-12 Nadja Blum, Christian Mirian, Andrea Daniela Maier, Tiit Illimar Mathiesen, Frederik Vilhardt, Jeppe Lohfert Haslund-Vinding
Meningiomas are the most common primary intracranial tumors and show extensive infiltration of macrophages. The mitochondrial membrane protein translocator protein (TSPO) has been used as an in vivo marker of microglia and macrophage activation to visualize neuroinflammation. However, it is unknown which cell types express TSPO in meningiomas. Immunohistochemistry of 38 WHO grade 1–3 meningiomas was
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Expression, clinicopathological significance, and prognostic potential of AMPK, p-AMPK, PGC-1α, and TFAM in astrocytomas. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-10 Juan Wang,Lei Lou,Dan Li,Yuan Wang,Xin Jia,Xue Hao,Weina Liu,Yuehong Li,Wenxin Wu,Lianguo Hou,Jinfeng Cui
AMP-activated protein kinase (AMPK) is a sensor of energy status that maintains cellular energy homeostasis. Activation of AMPK enhances the expression of proliferator-activated receptor γ coactivator 1α (PGC1-α) and subsequently activates mitochondrial transcription factor A (TFAM) to regulate mitochondrial oxidative respiratory function. The possible functions of AMPK, p-AMPK, PGC-1α, and TFAM and
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A pleomorphic xanthoastrocytoma highlighting the morphological heterogeneity of this uncommon tumor. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-11-09 Lorraina J Robinson,Eric Goold,Scott Potter,Edward P Quigley,Randy L Jensen,Qinwen Mao
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Diffuse hemispheric glioma with H3-3B G34R mutation: Expanding the spectrum of histone H3 genes in diffuse hemispheric glioma, H3 G34-mutant. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-25 Amir Nazem,Jonathan Lavezo,Zied Abdullaev,Kenneth Aldape,Martha Quezado,Patrick Joseph Cimino,Drew W Pratt,Robert B Jenkins,Cristiane M Ida
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Orbital SOX10-mutant schwannoma with plexiform growth: Expanding the histopathological spectrum of a new molecular group. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Ansar A Wali,Robin Yang,Shannath L Merbs,Fausto J Rodriguez,Charles G Eberhart,Calixto-Hope G Lucas
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Brainstem oligodendroglioma, IDH-mutant, and 1P/19Q-codeleted: A potential diagnostic pitfall. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Oumaima Aboubakr,Alice Métais,Lauren Hasty,Raphaël Saffroy,Marc Zanello,Johan Pallud,Frédéric Dhermain,Pascale Varlet,Arnault Tauziède-Espariat
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Neuroepithelial tumor with EWSR1::PATZ1 fusion: A literature review. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Hyunhee Kim,Kwanghoon Lee,Ji Hoon Phi,Sun Ha Paek,Hongseok Yun,Seung Hong Choi,Sung-Hye Park
We present the clinicopathological and molecular genetic characteristics of a neuroepithelial tumor (NET), EWSR1::PATZ1 fusion-positive with a literature review. This fusion has recently been discovered in rare central nervous system tumors and soft tissue sarcomas and was not included in the fifth edition of the WHO classifications. We identified this fusion in 2 NETs. The first case involved a 7-year-old
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C9orf72 proline-arginine dipeptide repeats disrupt the proteasome and perturb proteolytic activities. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Yifan Zhang,Sophia C K Nelson,Ashley P Viera Ortiz,Edward B Lee,Robert Fairman
The hexanucleotide G4C2 repeat expansion in C9orf72 is the most frequent genetic cause of familial amyotrophic lateral sclerosis (ALS). Aberrant translation of this hexanucleotide sequence leads to production of 5 dipeptide repeats (DPRs). One of these DPRs is proline-arginine (polyPR), which is found in C9orf72-expanded ALS (C9ALS) patient brain tissue and is neurotoxic across multiple model systems
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The intricate role of CCL5/CCR5 axis in Alzheimer disease. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Weijiang Ma,Aihua Liu,Xinya Wu,Li Gao,Jingjing Chen,Hanxin Wu,Meixiao Liu,Yuxin Fan,Li Peng,Jiaru Yang,Jing Kong,Bingxue Li,Zhenhua Ji,Yan Dong,Suyi Luo,Jieqin Song,Fukai Bao
The morbidity and mortality associated with Alzheimer disease (AD), one of the most common neurodegenerative diseases, are increasing each year. Although both amyloid β and tau proteins are known to be involved in AD pathology, their detailed functions in the pathogenesis of the disease are not fully understood. There is increasing evidence that neuroinflammation contributes to the development and
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NFYB increases chemosensitivity in glioblastoma by promoting HDAC5-mediated transcriptional inhibition of SHMT2. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Yingfan Zhang,Haoxuan Huang,Peikun Liu,Yuanyang Xie
Temozolomide (TMZ) is a commonly used chemotherapeutic agent for glioblastoma (GBM), but acquired drug resistance prevents its therapeutic efficacy. We investigated potential mechanisms underlying TMZ resistance and glycolysis in GBM cells through regulation by nuclear transcription factor Y subunit β (NFYB) of the oncogene serine hydroxymethyltransferase 2 (SHMT2). GBM U251 cells were transfected
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A novel ARIH1::BRAF fusion in a glioma. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-20 Emily Xu,Sara Lynn Stone,Yiming Zhong,Netta Golenberg,Liming Qiu,Zied Abdullaev,Kenneth Aldape,Linda Bagley,Casey H Halpern,Nduka Amankulor,MacLean P Nasrallah
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Chronic traumatic encephalopathy-neuropathologic change in a routine neuropathology service: 7-year follow-up J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-10-17 Marc R Del Bigio, Sherry Krawitz, Namita Sinha
To follow our 2016 study of chronic traumatic encephalopathy neuropathologic change (CTE-NC) in our forensic autopsy service, we prospectively screened all cases with clinical histories of multiple concussions, persistent post-head injury symptoms, or ≥3 hospital investigations for head injuries from 2016 to 2022 inclusive using hyperphosphorylated tau (p-tau) immunostaining. The cases had routine
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D-2-hydroxyglutarate regulates human brain vascular endothelial cell proliferation and barrier function J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-23 Chuan Cao, Lingjun Zhang, Mia D Sorensen, Guido Reifenberger, Bjarne W Kristensen, Thomas M McIntyre, Feng Lin
Gain-of-function mutations in isocitrate dehydrogenase (IDH) genes result in excessive production of (D)-2-hydroxyglutarate (D-2HG) which intrinsically modifies tumor cell epigenetics and impacts surrounding noncancerous cells through nonepigenetic pathways. However, whether D-2HG has a paracrine effect on endothelial cells in the tumor microenvironment needs further clarification. We quantified microvessel
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Maturation of metastases in peripheral neuroblastic tumors (neuroblastoma) of children. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-20 Harvey B Sarnat,Elaine S Chan,Denise Ng,Weiming Yu
Peripheral neuroblastic tumors of childhood exhibit 3 principal neural crest lineages: primitive neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. They are unique in undergoing maturation of neurons (ganglion cells) and Schwann cells, thereby recapitulating normal fetal neuronal development in the brain. Precision in estimating neurogenesis is enhanced by immunoreactivities of markers of neuronal
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Differentiating pathologic tau in chronic traumatic encephalopathy (CTE) from other tauopathies: A potential antibody panel assessment. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-20 Zachary A Sorrentino,Giavanna Paterno,Benoit I Giasson,Julian E Bailes,John M Lee,Brandon Lucke-Wold
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Abnormal phosphorylation of protein tyrosine in neurodegenerative diseases. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-20 Lijuan Shu,Chunfu Du,Yunxia Zuo
Neurodegenerative diseases, including Alzheimer disease, Parkinson disease, amyotrophic lateral sclerosis, and multiple sclerosis, are chronic disorders of the CNS that are characterized by progressive neuronal dysfunction. These diseases have diverse clinical and pathological features and their pathogenetic mechanisms are not yet fully understood. Currently, widely accepted hypotheses include the
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Pronounced decline of absolute cell numbers in the brain of a newborn with congenital syphilis. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-20 Emily Castro-Fonseca,Barbara Rosa,Viviane R Silva,Cecilia V Andrade,Inês Praxedes,Andréa B Guastavino,Claudia G Esteves,Georgia Chalfun,Arnaldo Prata-Barbosa,Leila Chimelli,Patricia P Garcez,Roberto Lent
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Cavernous sinus hemangioma: Histopathological spectrum of 8 cases. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-20 Joshua M Rasband,Rasha Alfattal,Akash J Patel,Gregory N Fuller,Arie Perry,Hsiang-Chih Lu
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A novel, pathogenic COL4A1 missense variant involving thrombotic microangiopathic leukoencephalopathy in a neonate. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-09-20 Lorraina J Robinson,Duncan Sudarshan,Eric Goold,Jessica Comstock,Joshua Klonoski,Qinwen Mao,Cheryl A Palmer,Christian Davidson
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LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry. J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-08-21 Yuriko Katsumata,David W Fardo,Lincoln M P Shade,,Peter T Nelson
Limbic-predominant age-related TDP-43 encephalopathy (LATE) affects approximately one-third of older individuals and is associated with cognitive impairment. However, there is a highly incomplete understanding of the genetic determinants of LATE neuropathologic changes (LATE-NC) in diverse populations. The defining neuropathologic feature of LATE-NC is TDP-43 proteinopathy, often with comorbid hippocampal
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Perinatal hypoxic-ischemic brain injury: What’s behind the “ribbon effect”? J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-08-18 Angela N Viaene, Ernest J Nelson, Mariarita Santi
Ribbon effect describes a perceived macroscopic color reversal of the gray and white matter, characterized by a pale cortex and diffusely dusky underlying white matter. This finding is thought to be unique to the perinatal period and indicative of hypoxic-ischemic injury. However, the clinical and microscopic correlates of this macroscopic finding have not been clearly defined. A 21-year retrospective
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Hippocampal synaptic alterations associated with tau pathology in primary age-related tauopathy J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-08-18 Meaghan Morris, Gabrielle I Coste, Javier Redding-Ochoa, Haidan Guo, Austin R Graves, Juan C Troncoso, Richard L Huganir
Primary age-related tauopathy (PART) is characterized by aggregation of tau in the mesial temporal lobe in older individuals. High pathologic tau stage (Braak stage) or a high burden of hippocampal tau pathology has been associated with cognitive impairment in PART. However, the potential underlying mechanisms are not well understood. Cognitive impairment in many neurodegenerative diseases correlates
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The GPER1 agonist G1 reduces brain injury and improves the qEEG and behavioral outcome of experimental ischemic stroke J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-08-10 Luan Oliveira Ferreira, Rafael Dias de Souza, Leonan Lima Teixeira, Laine Celestino Pinto, Joao Cleiton Martins Rodrigues, Arnaldo Jorge Martins-Filho, Edmar Tavares da Costa, Moisés Hamoy, Dielly Catrina Favacho Lopes
Stroke is one of the principal cerebrovascular diseases in human populations and contributes to a majority of the functional impairments in the elderly. Recent discoveries have led to the inclusion of electroencephalography (EEG) in the complementary prognostic evaluation of patients. The present study describes the EEG, behavioral, and histological changes that occur following cerebral ischemia associated
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CDKN2A mutations have equivalent prognostic significance to homozygous deletion in IDH-mutant astrocytoma J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-08-08 Raquel T Yokoda, William S Cobb, Raymund L Yong, John F Crary, Mariano S Viapiano, Jamie M Walker, Melissa Umphlett, Nadejda M Tsankova, Timothy E Richardson
Homozygous deletion of CDKN2A/B is currently considered a molecular signature for grade 4 in IDH-mutant astrocytomas, irrespective of tumor histomorphology. The 2021 WHO Classification of CNS Tumors does not currently include grading recommendations for histologically lower-grade (grade 2–3) IDH-mutant astrocytoma with CDKN2A mutation or other CDKN2A alterations, and little is currently known about
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Hippocampal transcriptome analysis reveals mechanisms of cognitive impairment in beagle dogs with type 1 diabetes J. Neuropathol. Exp. Neurol. (IF 3.2) Pub Date : 2023-08-03 Qingyue Han, Qingyu Ding, Luyao Yu, Tingyu Li, Bingxia Sun, Zhaoxin Tang
Diabetic encephalopathy is a common complication of type 1 diabetes. However, there have been few studies on cognitive impairment and hippocampal damage in type 1 diabetes mellitus (T1DM) using dogs as experimental animals. To investigate the effects of diabetes on the CNS, 40 adult beagles were divided into streptozotocin/alloxan type 1 diabetes model and control groups. The duration of diabetes in