Journal of Neuropathology and Experimental Neurology最新文献_第10页

Transthyretin immunohistochemistry on muscle and nerve biopsies detects hereditary and wild-type transthyretin amyloidosis with high sensitivity and specificity. 肌肉和神经活检的甲状腺素免疫组化检测遗传性和野生型甲状腺素淀粉样变性具有高敏感性和特异性。

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-05-01 DOI: 10.1093/jnen/nlaf111

Mohamed Elnagdy, Chunyu Cai

引用次数: 0

Chronic traumatic encephalopathy neuropathologic change is associated with highest stage limbic-predominant age-related TDP-43 encephalopathy. 慢性创伤性脑病神经病理改变与最高阶段边缘显性年龄相关性TDP-43脑病相关。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-27 DOI: 10.1093/jnen/nlag040

Hailong Song, Kamar E Ameen-Ali, Claire Kennedy-Dietrich, Jean-Pierre Dolle, Edward B Lee, Douglas H Smith, William Stewart

{"title":"Chronic traumatic encephalopathy neuropathologic change is associated with highest stage limbic-predominant age-related TDP-43 encephalopathy.","authors":"Hailong Song, Kamar E Ameen-Ali, Claire Kennedy-Dietrich, Jean-Pierre Dolle, Edward B Lee, Douglas H Smith, William Stewart","doi":"10.1093/jnen/nlag040","DOIUrl":"10.1093/jnen/nlag040","url":null,"abstract":"Traumatic brain injury (TBI) is recognized as a major risk factor for neurodegenerative disease (NDD). Autopsy studies frequently describe chronic traumatic encephalopathy neuropathologic change (CTE-NC) in individuals with histories of repetitive head impact (RHI) exposure, often with accompanying comorbid neurodegenerative proteinopathies. Of these, deposition of abnormally phosphorylated TDP-43 (pTDP-43) has been reported but the prevalence and distribution of pTDP-43 in CTE-NC and its distinction from that encountered in wider NDD are uncertain. Here, patients with a history of RHI and documented NDD (n = 30), and age-matched controls with no known TBI or RHI exposure, either with (n = 24) or without (n = 18) NDD, were identified within the CONNECT-TBI archive. Standardized brain tissue sections stained for pTDP-43 were assessed. pTDP-43 pathology prevalence was similar among RHI patients (40%) and controls with NDD (33%). pTDP-43 was typically localized (limbic-predominant age-related TDP-43 encephalopathy neuropathologic change [LATE-NC] stage 1 to 2) in amygdala and hippocampus in controls with NDD and following RHI exposure without CTE-NC. In contrast, this pathology was often widespread and of high stage (LATE-NC stage 3; P = .0045) in patients with CTE-NC. Thus, CTE-NC may be associated with more widespread pTDP-43 pathology than encountered in aging or those with NDD and no history of TBI/RHI.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Localization of mast cells in human brain tissue: Implications for neuropsychiatric symptoms in COVID-19. 肥大细胞在人脑组织中的定位：对COVID-19神经精神症状的影响

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-17 DOI: 10.1093/jnen/nlag036

Jennifer Nicoloro-SantaBarbara, Matthew P Giannetti, Isaac H Solomon, Matthew J Hamilton, Peter Novak, Arthi Ramkumar, Mariana Castells, Jason L Hornick

引用次数: 0

Sudden death from a clinically silent right insular infarct in a patient with prior left insular astrocytoma. 左岛星形细胞瘤患者临床无症状右岛梗死猝死1例。

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-17 DOI: 10.1093/jnen/nlag034

Beau Idler, Meagan Chambers

引用次数: 0

A pediatric case of YAP1::MAML2 fusion-positive supratentorial ependymoma: A potential subtype of YAP1-fused ependymoma. 1例YAP1::MAML2融合阳性的幕上室管膜瘤：YAP1融合室管膜瘤的潜在亚型。

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-17 DOI: 10.1093/jnen/nlag042

Kento Kawata, Ryuma Tanaka, Kohei Fukuoka, Yohei Masugi, Kenta Masui, Ryosuke Hayashi, Koichi Ichimura, Takako Yoshioka, Junko Hirato, Arnault Tauziède-Espariat, Jumpei Ito, Tomoru Miwa

引用次数: 0

Correction to: Mapping the expression of endothelial adhesion receptors for Plasmodium falciparum-infected erythrocytes in fatal cerebral malaria in Malawian children. 更正：绘制恶性疟原虫感染的红细胞在马拉维儿童致死性脑疟疾中的内皮粘附受体的表达。

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-01 DOI: 10.1093/jnen/nlag003

引用次数: 0

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). x连锁肌病伴过度自噬（XMEA）患者的临床、形态学和分子特征

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-01 DOI: 10.1093/jnen/nlaf134

Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, Guy Brochier, Clémence Labasse, Anais Chanut, Angeline Madelaine, Maud Beuvin, Gisèle Bonne, Léonard Féasson, Marie-Christine Minot, Jean-Baptiste Noury, Mélanie Fradin, Marco Savarese, Gorka Fernández-Eulate, Anthony Behin, Tanya Stojkovic, Andreas Hentschel, Pascale Marcorelles, Andreas Roos, Teresinha Evangelista

{"title":"Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).","authors":"Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, Guy Brochier, Clémence Labasse, Anais Chanut, Angeline Madelaine, Maud Beuvin, Gisèle Bonne, Léonard Féasson, Marie-Christine Minot, Jean-Baptiste Noury, Mélanie Fradin, Marco Savarese, Gorka Fernández-Eulate, Anthony Behin, Tanya Stojkovic, Andreas Hentschel, Pascale Marcorelles, Andreas Roos, Teresinha Evangelista","doi":"10.1093/jnen/nlaf134","DOIUrl":"10.1093/jnen/nlaf134","url":null,"abstract":"X-linked myopathy with excessive autophagy (XMEA) is a slowly progressive disease affecting male patients, caused by hemizygous mutations in the VMA21 gene. We studied nine patients from six unrelated French families clinically suspected of having XMEA. Clinical charts were reviewed, and muscle biopsies underwent histological, immunohistochemical, and electron microscopy analysis. Sanger sequencing and next generation VMA21 gene panels were performed, and proteomic profiling was done on muscle extracts from two patients. Clinical onset ranged from childhood to adulthood with most showing proximal lower limb weakness and mild creatine kinase elevation. Three patients had cardiac and respiratory involvement. Muscle biopsies revealed cytoplasmic vacuoles, split fibers, internalized nuclei and variable fiber sizes. Vacuoles stained positively for sarcolemmal and autophagic proteins, as well as for complement C5b-9. Ultrastructural analysis showed basal lamina duplication, subsarcolemmal vacuoles, and extensive autophagosome extrusion. Proteomic analysis revealed complement activation, impaired proteolysis, and mitochondrial/cytoskeletal vulnerabilities. Biglycan and thrombospondin-4 were identified as potential novel diagnostic markers. Molecular studies found two known pathogenic variants (c.164-7T>G and c.163 + 4A>G) and a novel 3'UTR variant (c.*124A>G) in VMA21. This study expands the clinical spectrum of XMEA by reporting adult-onset cases, a novel mutation, and highlights the value of proteomics in understanding the pathophysiology of XMEA.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"351-362"},"PeriodicalIF":3.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13017771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145634985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The association between virus-induced spinal cord pathology and the genetic background of the host. 病毒诱导的脊髓病理与宿主遗传背景之间的关系。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-01 DOI: 10.1093/jnen/nlaf127

Koedi S Lawley, Tae Wook Kang, Raquel R Rech, Moumita Karmakar, Raymond Carroll, Aracely A Perez Gomez, Katia Amstalden, Yava Jones-Hall, David W Threadgill, C Jane Welsh, Colin R Young, Candice Brinkmeyer-Langford

{"title":"The association between virus-induced spinal cord pathology and the genetic background of the host.","authors":"Koedi S Lawley, Tae Wook Kang, Raquel R Rech, Moumita Karmakar, Raymond Carroll, Aracely A Perez Gomez, Katia Amstalden, Yava Jones-Hall, David W Threadgill, C Jane Welsh, Colin R Young, Candice Brinkmeyer-Langford","doi":"10.1093/jnen/nlaf127","DOIUrl":"10.1093/jnen/nlaf127","url":null,"abstract":"Theiler's murine encephalomyelitis virus (TMEV) infection in mice has been used to study diverse neurological diseases, including multiple sclerosis and epilepsy. In this investigation, 5 strains of collaborative cross (CC) mice were infected with TMEV and examined clinically and histologically at days 4, 14, and 90 post-infection (dpi). All CC strains tested exhibited lumbar spinal cord and/or ventral peripheral nerve lesions by 14 dpi; CC027, CC023, and CC078 strains exhibited lesions at 4 dpi. At 90 dpi, lesions were remnants of the inflammatory responses associated with earlier infection; there was skeletal muscle atrophy in the CC023 strain. Increased microglial/macrophage reactivity was observed in all strains at 4 and 14 dpi, but not at 90 dpi. TMEV mRNA expression was greatest in the CC023 and CC078 strains at the acute timepoints; TMEV was completely cleared in all mice at 90 dpi. The neuropathological and clinical profiles in CC023 mice, mainly at 14 dpi, share some clinical and histologic features with those in amyotrophic lateral sclerosis patients. This work demonstrates how viral infection might interact with the genetic background of a susceptible individual to contribute to the onset, clinical presentation and persistence of lesions despite viral clearance.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"331-340"},"PeriodicalIF":3.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Systemic microbial antigen administration ameliorates experimental autoimmune encephalomyelitis via MHC-II downregulation in the CNS and secondary lymphoid organs. 系统性微生物抗原通过中枢神经系统和次级淋巴器官MHC-II的下调改善实验性自身免疫性脑脊髓炎。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-04-01 DOI: 10.1093/jnen/nlaf126

Marina Boziki, Paschalis Theotokis, Evangelia Kesidou, Eleni Karafoulidou, Ilias Salamotas, Anastasia Chatziefstratiadou, Olga Touloumi, Konstantinos Papadakos, Dionyssios Sgouras, Ofira Einstein, Jannis Kountouras, Nikolaos Grigoriadis

{"title":"Systemic microbial antigen administration ameliorates experimental autoimmune encephalomyelitis via MHC-II downregulation in the CNS and secondary lymphoid organs.","authors":"Marina Boziki, Paschalis Theotokis, Evangelia Kesidou, Eleni Karafoulidou, Ilias Salamotas, Anastasia Chatziefstratiadou, Olga Touloumi, Konstantinos Papadakos, Dionyssios Sgouras, Ofira Einstein, Jannis Kountouras, Nikolaos Grigoriadis","doi":"10.1093/jnen/nlaf126","DOIUrl":"10.1093/jnen/nlaf126","url":null,"abstract":"Microbial stimuli modulate CNS neuroinflammation but the exact molecular mechanisms are largely unknown. In this study, we aimed to delineate the effect of systemic pre-disease microbial antigen administration of 2 different microbial strains on systemic and CNS immune responses in myelin oligodendrocyte glycoprotein (MOG)-induced experimental autoimmune encephalomyelitis (EAE) in wtC57/BL5 mice. The mice received either Helicobacter pylori (Hp) or E coli antigen or PBS by 3 weekly intraperitoneal injections prior to EAE induction. Mice subjected to microbial antigen administration displayed decreased disease incidence and severity compared to controls. These results were linked with reduced splenocyte proliferation against MOG peptide in vitro and decreased expression of chemoattractant chemokines in both peripheral lymphoid organs and the CNS compared to controls. EAE amelioration was associated with a relative increase in Iba1+ arginase+ anti-inflammatory microglia in the CNS and with reduced MHC-II expression levels in antigen-presenting cells, indicated by reduction of Tmem+MHC-II+ microglia and Ly6C+MHC-II+ monocyte-derived macrophages. Our data provide mechanistic insight into the immune tolerance induced via systemic administration of 2 different microbial strain antigens in the context of CNS autoimmunity, possibly via the modulation of antigen-presentation via non-myelin peptide-specific mechanisms.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"309-330"},"PeriodicalIF":3.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13017736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145541256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diffuse leptomeningeal glioneuronal tumour in the elderly: A molecularly confirmed case with loss of H3 K27me3 and pTERT mutation. 老年人弥漫性轻脑膜胶质细胞肿瘤：H3 K27me3缺失和pTERT突变的分子确诊病例

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-03-17 DOI: 10.1093/jnen/nlag024

Marcella Callea, Rosina Paterra, Luisa Maddaloni, Mario Stanziano, Francesco Costa, Valeria Barresi

引用次数: 0