Journal of Neuropathology and Experimental Neurology最新文献_第4页

FUS protein nuclear loss in skin biopsy: A window into the pathology and diagnosis of fused in sarcoma-associated amyotrophic lateral sclerosis. 皮肤活检中FUS蛋白核丢失：肉瘤相关肌萎缩性侧索硬化症融合的病理和诊断的窗口。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-07-17 DOI: 10.1093/jnen/nlaf077

Didi Shan, Xiaohan Sun, Yao Tang, Yuying Zhao, Chuanzhu Yan, Fuchen Liu

引用次数: 0

Stereotactic lesioning of cholinergic cells by injection of ME20.4 Saporin in the nucleus basalis of Meynert in a rhesus monkey (Macaca mulatta). 注射ME20.4皂苷对恒河猴Meynert基底核胆碱能细胞立体定向损伤的研究。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-07-17 DOI: 10.1093/jnen/nlaf081

Muhammad Nazmuddin, Marieke A Stammes, P Christiaan Klink, Marit K Vernes, Jaco Bakker, Jan A M Langermans, Teus van Laar, Ingrid H C H M Philippens

{"title":"Stereotactic lesioning of cholinergic cells by injection of ME20.4 Saporin in the nucleus basalis of Meynert in a rhesus monkey (Macaca mulatta).","authors":"Muhammad Nazmuddin, Marieke A Stammes, P Christiaan Klink, Marit K Vernes, Jaco Bakker, Jan A M Langermans, Teus van Laar, Ingrid H C H M Philippens","doi":"10.1093/jnen/nlaf081","DOIUrl":"https://doi.org/10.1093/jnen/nlaf081","url":null,"abstract":"Cholinergic degeneration in the nucleus basalis of Meynert (NBM) is clinically linked to cognitive impairment and gait dysfunction in Alzheimer's disease and Parkinson's disease. Modeling cholinergic degeneration in an animal model may provide powerful opportunities to study the clinical-physiological role of the NBM and lead to new therapies. We describe a procedure to inject ME20.4 Saporin, an immunotoxin that specifically binds to and depletes cholinergic neurons stereotactically into the NBM of a rhesus monkey (Macaca mulatta). A digital non-human primate brain atlas was co-registered to the brain of the monkey. A custom-designed cranial chamber was also implanted to the skull to guide the injection. The effects of the ME20.4 Saporin injections were evaluated in vivo with PET-CT using [18F]-FEOBV as a radiotracer. This approach yielded reliable spatial accuracy and successful delivery of ME20.4 Saporin into the NBM. [18F]-FEOBV PET analyses revealed reduced radiotracer uptake in the NBM. Postmortem assessment showed a reduction of ME20.4-positive cells within the NBM. No clear effects on cognitive testing were observed. This Saporin-mediated selective destruction of cholinergic neurons in the NBM, using MRI-guidance and a cranial chamber, offers a promising method to study the pathophysiology of NBM degeneration and possible therapeutic interventions.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144649790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report. 考登综合征患者脑桥小脑角shh激活的胚胎性肿瘤无小脑相互作用：1例报告。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-07-11 DOI: 10.1093/jnen/nlaf080

Takahiro Ishikawa, Kohei Fukuoka, Daiju Oba, Kayoko Ichimura, Yonehiro Kanemura, Yutaka Tanami, Hirofumi Ohashi, Atsuko Nakazawa, Jun Kurihara, Katsuyoshi Koh

引用次数: 0

Transthyretin abnormalities in amyotrophic lateral sclerosis: High molecular weight species in cerebrospinal fluid and stromal deposits in choroid plexus. 肌萎缩性侧索硬化症的甲状腺素转运异常：脑脊液中的高分子量物质和脉络膜丛的基质沉积。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-07-03 DOI: 10.1093/jnen/nlaf076

Mahlon Collins, Heather Kwapiszeski, Jiyan An, Deyri Garcia, Danielle Peller, Shafeeq Ladha, Robert Bowser, Nadine Bakkar

{"title":"Transthyretin abnormalities in amyotrophic lateral sclerosis: High molecular weight species in cerebrospinal fluid and stromal deposits in choroid plexus.","authors":"Mahlon Collins, Heather Kwapiszeski, Jiyan An, Deyri Garcia, Danielle Peller, Shafeeq Ladha, Robert Bowser, Nadine Bakkar","doi":"10.1093/jnen/nlaf076","DOIUrl":"https://doi.org/10.1093/jnen/nlaf076","url":null,"abstract":"Transthyretin (TTR) is a plasma and cerebrospinal fluid (CSF) protein involved in transporting thyroid hormone and retinol, with additional roles in the central nervous system (CNS). The tetrameric structure of TTR is essential for its functions and tetramer dissociation and aggregation into pathological amyloid fibrils is implicated in multiple diseases. Altered levels of TTR have previously been described in amyotrophic lateral sclerosis (ALS) in both CSF and CNS tissue. However, whether altered TTR levels in ALS reflect TTR pathology in CSF or in the choroid plexus (CP) cells that synthesize CNS TTR is unknown. Here, we comprehensively assayed native and aggregated TTR in ALS patient CSF and postmortem ALS CP. Using a nondenaturing native polyacrylamide gel electrophoresis-based assay, we identified high molecular weight TTR aggregates in the CSF of ALS patients. We also observed increased levels of TTR RNA and protein in ALS CP, as well as TTR granule deposits in CP stroma of ALS but not control cases. Taken together, our results reveal new forms of TTR dysfunction in ALS and uncover TTR-related morphological abnormalities in the CP in ALS patients.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MTAP immunohistochemistry as a surrogate marker of CDKN2A loss in brain tumors: A meta-analysis and literature review. MTAP免疫组织化学作为脑肿瘤中CDKN2A缺失的替代标志物：荟萃分析和文献综述

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-07-01 DOI: 10.1093/jnen/nlaf033

Antonio Dono, Diego Pichardo-Rojas, Leonardo Mendoza Mora, Pavel S Pichardo-Rojas, Luis A Marin-Castañeda, Abril Carrillo, Adrian Coria Medrano, Yoshua Esquenazi, Leomar Y Ballester

{"title":"MTAP immunohistochemistry as a surrogate marker of CDKN2A loss in brain tumors: A meta-analysis and literature review.","authors":"Antonio Dono, Diego Pichardo-Rojas, Leonardo Mendoza Mora, Pavel S Pichardo-Rojas, Luis A Marin-Castañeda, Abril Carrillo, Adrian Coria Medrano, Yoshua Esquenazi, Leomar Y Ballester","doi":"10.1093/jnen/nlaf033","DOIUrl":"10.1093/jnen/nlaf033","url":null,"abstract":"Given the known relationship between CDKN2A homozygous deletion (HD) and worsened outcomes in both meningiomas and IDH-mutant astrocytomas, it is paramount to identify CDKN2A HD for accurate risk stratification of patients. Multiple array platforms can detect CDKN2A HD. However, these methods are expensive and are not readily available at every institution. To address this, we conducted a meta-analysis and literature review to evaluate 5'-methylthioadenosine phosphorylase (MTAP) expression determined by immunohistochemistry (IHC) as a surrogate of CDKN2A HD. Our study analyzed 7 cohort studies, 3 of which focused on meningiomas encompassing a total of 87 patients; and 4 studies were conducted on infiltrating glioma patients, consisting of 423 patients. Our results show that despite utilizing different MTAP IHC clones, the results among all studies showed consistently good sensitivity and specificity. The overall sensitivity and specificity of MTAP IHC as a surrogate of CDKN2A HD was excellent with 92.3% and 97.5%, respectively. These results were maintained when MTAP IHC was evaluated in distinct tumor types. MTAP IHC is a good surrogate marker for identifying CDKN2A HD in infiltrating gliomas and meningiomas. MTAP IHC implementation would allow correct integrated diagnosis for institutions that lack DNA sequencing.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"600-610"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12199257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987711","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

Temporal progression of axonal degeneration in the visual system in experimental autoimmune encephalomyelitis: Insights from high-resolution neuropathology. 实验性自身免疫性脑脊髓炎视觉系统轴突变性的时间进展：来自高分辨率神经病理学的见解。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-06-25 DOI: 10.1093/jnen/nlaf073

Chang Liu, Athanasios S Alexandris, Marjan Gharagozloo, Thomas Garton, Peter A Calabresi, Vassilis E Koliatsos

{"title":"Temporal progression of axonal degeneration in the visual system in experimental autoimmune encephalomyelitis: Insights from high-resolution neuropathology.","authors":"Chang Liu, Athanasios S Alexandris, Marjan Gharagozloo, Thomas Garton, Peter A Calabresi, Vassilis E Koliatsos","doi":"10.1093/jnen/nlaf073","DOIUrl":"https://doi.org/10.1093/jnen/nlaf073","url":null,"abstract":"Multiple sclerosis (MS) is characterized by inflammation, demyelination, and axonal degeneration in the CNS, leading to progressive neurological disability is generally regarded as an autoimmune disorder. Visual impairment, a frequent symptom, results from damage to retinal ganglion cells (RGCs) and their axons in the anterior visual pathway. Using the experimental autoimmune encephalomyelitis (EAE) model in mice, we used several methods, including high-resolution neuropathology with a novel immunohistochemical technique on ultrathin sections, to characterize axonal pathology and demyelination, terminal disruption, perikaryal degeneration, and visual acuity. Electron microscopy demonstrated early axonopathy and myelin splitting, progressing to severe degradation of axons and myelin sheaths. Severe transport deficits in the optic nerve correlated with loss of labeling of retinocollicular terminals. Visual acuity, assessed by optomotor response (OMR), significantly declined at peak stage in the EAE group and remained impaired throughout the course of disease. These findings reveal the temporal progression of neurodegeneration with a dying-back pattern in EAE and emphasize the importance of early intervention to prevent permanent damage. They also point to the importance of novel methods in generating new insights in classical models of neurological disease.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease. Marchiafava-Bignami病的死前放射学和组织病理学表现。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-06-24 DOI: 10.1093/jnen/nlaf074

Leyla Canbeldek, Raquel T Yokoda, Lakshmi S Kulumani Mahadevan, Yamato Suemitsu, Jorge Samanamud, Cheyanne C Slocum, Carolina Maldonado-Díaz, Satomi Hiya, Kevin Clare, Raymund L Yong, Melissa Umphlett, Nadejda M Tsankova, John F Crary, Jamie M Walker, Thomas P Naidich, Timothy E Richardson

{"title":"Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.","authors":"Leyla Canbeldek, Raquel T Yokoda, Lakshmi S Kulumani Mahadevan, Yamato Suemitsu, Jorge Samanamud, Cheyanne C Slocum, Carolina Maldonado-Díaz, Satomi Hiya, Kevin Clare, Raymund L Yong, Melissa Umphlett, Nadejda M Tsankova, John F Crary, Jamie M Walker, Thomas P Naidich, Timothy E Richardson","doi":"10.1093/jnen/nlaf074","DOIUrl":"https://doi.org/10.1093/jnen/nlaf074","url":null,"abstract":"Marchiafava-Bignami disease (MBD) is a rare disorder, characterized by demyelination and cystic necrosis of the corpus callosum; it is typically seen in the setting of chronic alcoholism but may also occur with severe malnutrition. Clinical features include altered mental status, loss of consciousness, dysarthria, spasticity, ataxia, and seizures. To our knowledge, only 1 case of MBD with antemortem histology has been reported in the literature. Herein, we describe the clinical, radiologic, and histopathologic features of 2 new cases with corpus callosum demyelination consistent with MBD that were identified on antemortem biopsy; 1 was related to chronic alcoholism and the other was in the setting of severe malnutrition. Imaging studies showed that the initial lesions involved the full thickness of the corpus callosum with later evolution into the characteristic linear zone of necrosis in the mid-third of the corpus callosum. There was additional evidence of extracallosal involvement in both patients. Biopsies in both patients demonstrated numerous macrophages with myelin debris in their cytoplasm and relative axonal preservation, although there was some axonal loss in areas with the densest collection of macrophages. These findings highlight the clinical and radiographic progression in 2 cases of biopsy-proven MBD.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Abundant nigral neuronal cytoplasmic inclusions in multiple system atrophy with slowly progressive levodopa-responsive parkinsonism. 缓慢进行性左旋多巴反应性帕金森多系统萎缩伴丰富的神经细胞胞质包涵体。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-06-18 DOI: 10.1093/jnen/nlaf072

Toshimasa Ikeda, Teppei Fujioka, Mari Yoshida, Takashi Ando, Akio Akagi, Yuichi Riku, Hiroaki Miyahara, Jun Sone, Yasushi Iwasaki, Noriyuki Matsukawa

引用次数: 0

FGFR1 fusions in genomically and epigenetically bona fide glioblastoma, IDH-wildtype. FGFR1在真性胶质母细胞瘤（idh -野生型）中的基因组和表观遗传学融合

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-06-12 DOI: 10.1093/jnen/nlaf068

Riley H Lochner, Suzanne Z Powell, Kar-Ming Fung, Yi J Zhang, David Baskin, Ivo W Tremont-Lukats, Rupen Desai, Ian F Dunn, James D Battiste, Maya Hrachova, Jayson Hardcastle, Amir Nazem, Stephanie A Smoley, Matthew Isaacson, Surendra Dasari, Mallika Gandham, Patrick J Cimino, Martha Quezado, Zied Abdullaev, Drew Pratt, Kenneth Aldape, Robert Jenkins, Cristiane M Ida

引用次数: 0

Expanding the differential diagnosis for dural-based spindle cell neoplasms: A report of a rare GLI1-altered mesenchymal tumor of the CNS. 扩大硬脑膜基础梭形细胞肿瘤的鉴别诊断：一例罕见的中枢神经系统gli1改变间充质肿瘤的报道。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-06-12 DOI: 10.1093/jnen/nlaf069

Monica Ospina-Romero, Shaan M Raza, Komal Shah, Martha Quezado, Kenneth Aldape, Maria A Gubbiotti

引用次数: 0