Journal of Neuropathology and Experimental Neurology最新文献_第2页

Rapid diagnosis of Fusobacterium nucleatum-associated brain abscess using metagenomic next-generation sequencing: A case series. 使用新一代宏基因组测序快速诊断核梭杆菌相关脑脓肿：一个病例系列。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-04 DOI: 10.1093/jnen/nlag047

Yu Chen, Ai-Seon Kuan, Po-Hsiang Liao, Wei-Hsin Wang, Yen-Chia Chen

引用次数: 0

Correction to: Digital pathology in tau research: A comparison of QuPath and HALO. 修正：tau研究中的数字病理学：QuPath和HALO的比较。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-03 DOI: 10.1093/jnen/nlag064

引用次数: 0

Glioblastoma with ependymal-like features harboring novel CTDSP2::GLI1 and INHBE::GLI1 fusions. 具有室管膜样特征的胶质母细胞瘤含有新的CTDSP2::GLI1和INHBE::GLI1融合体。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-02 DOI: 10.1093/jnen/nlag073

Tristan Mackey, Stephanie Salovesh, Andrew J Tsung, Alexis Carter, Jack Mordeson, Purvi Patel

引用次数: 0

Histopathological and molecular heterogeneity of dysembryoplastic neuroepithelial tumors. 胚胎发育异常神经上皮肿瘤的组织病理学和分子异质性。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlag052

Yuxiu Wang, Sarra Belakhoua, Yiying Yang, Jonathan Serrano, Craig Horbinski, Daniel R Boué, John C DeWitt, Benjamin Liechty, Declan McGuone, Qinwen Mao, Olga Krasnozhen-Ratush, Stephen Yip, Christopher Dunham, Melissa Umphlett, Seema Shroff, Matija Snuderl

{"title":"Histopathological and molecular heterogeneity of dysembryoplastic neuroepithelial tumors.","authors":"Yuxiu Wang, Sarra Belakhoua, Yiying Yang, Jonathan Serrano, Craig Horbinski, Daniel R Boué, John C DeWitt, Benjamin Liechty, Declan McGuone, Qinwen Mao, Olga Krasnozhen-Ratush, Stephen Yip, Christopher Dunham, Melissa Umphlett, Seema Shroff, Matija Snuderl","doi":"10.1093/jnen/nlag052","DOIUrl":"10.1093/jnen/nlag052","url":null,"abstract":"Dysembryoplastic neuroepithelial tumors (DNTs) are low-grade glioneuronal tumors with FGFR1 alterations. They show significant histologic and molecular overlap with other glioneuronal tumors, complicating diagnosis. We analyzed 44 tumors that were either classified as DNT by DNA methylation (n = 37), or were diagnosed histologically as DNT but did not classify as DNT by DNA methylation (n = 7). 13/37 (35%) DNT-classifying tumors were histologically diagnosed as DNTs. High-confidence DNTs (score >0.9, 23 cases, 62%) demonstrated variable histology, most frequently DNT (39%), oligodendroglioma, and ganglioglioma and most frequently harbored FGFR1 alterations. Lower-confidence DNTs (score < 0.9, 14 cases, 38%) showed greater heterogeneity; their histologic diagnoses included papillary glioneuronal tumor, extraventricular neurocytoma, and pilocytic astrocytoma. Tumors with low confidence score exhibited diverse molecular alterations including BRAF V600E mutations, PDGFRA amplification, or multiple gene fusions. Among 7 histologically diagnosed DNTs that did not classify as DNT by methylation, most grouped with the myxoid glioneuronal PDGFRA-mutant class despite lacking canonical PDGFRA mutations. Thus, DNTs with high confidence scores are relatively homogenous but DNTs with low methylation confidence scores are heterogenous, highlighting the importance of integrated molecular profiling. Our findings also suggest that the myxoid glioneuronal tumor methylation class may require further classification of underlying drivers.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"1033-1040"},"PeriodicalIF":3.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054818","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

Multisite study: Predicting Lewy body disease using skin biopsy α-synuclein seed amplification assays. 多位点研究：用皮肤活检α-突触核蛋白种子扩增法预测路易体病。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlag048

Chelva Janarthanam, Christina D Orrú, Andrew G Hughson, David Holzinger, Keenan Taylor, Anumantha G Kanthasamy, Byron Caughey, Roland G Heym, Charles H Adler, Holly A Shill, Shyamal Mehta, Erika Driver-Dunckley, Andrew H Ho, Parichita Choudhury, David R Shprecher, Christine M Belden, Alireza Atri, Nan Zhang, Kewei Chen, Geidy E Serrano, Thomas G Beach

{"title":"Multisite study: Predicting Lewy body disease using skin biopsy α-synuclein seed amplification assays.","authors":"Chelva Janarthanam, Christina D Orrú, Andrew G Hughson, David Holzinger, Keenan Taylor, Anumantha G Kanthasamy, Byron Caughey, Roland G Heym, Charles H Adler, Holly A Shill, Shyamal Mehta, Erika Driver-Dunckley, Andrew H Ho, Parichita Choudhury, David R Shprecher, Christine M Belden, Alireza Atri, Nan Zhang, Kewei Chen, Geidy E Serrano, Thomas G Beach","doi":"10.1093/jnen/nlag048","DOIUrl":"10.1093/jnen/nlag048","url":null,"abstract":"Skin biopsies analyzed with α-synuclein seed amplification assays (SAAs) are a simple way to clinically interrogate the presence of α-synuclein aggregates. We determined the accuracy of skin biopsy SAA in predicting the clinical diagnoses of Parkinson disease (PD), PD with dementia (PDD) and dementia with Lewy bodies (DLB). Blinded SAAs were performed in 3 independent laboratories. Subjects diagnosed with PD, PDD and DLB were analyzed together as group 1, clinically unaffected subjects as group 2 and those with risk factors for LBD as group 3. Punch biopsies were taken from the posterior neck and analyzed by the 3 labs in 6 separate SAAs. Pairwise agreement between labs and assays ranged from excellent (kappa 0.82) to moderate (kappa 0.40-0.68). Sensitivity across assays ranged between 50.0% and 61.3%; specificity ranged between 68.6% and 100%. Comparisons of group 1 vs group 2 produced the greatest specificities, between 77.3% and 100%. In 17 cases that subsequently came to autopsy, 93% of SAAs were positive in those at the neocortical LBD stage but in only <10% of those at lower stages. Skin biopsy α-synuclein SAA may be useful as a diagnostic and progression biomarker in Lewy body dementia clinical trials.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"1020-1032"},"PeriodicalIF":3.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13576072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138417","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

GRN rs5848 variant associates with TDP-43 pathology and cancer in opposite directions. GRN rs5848变异与TDP-43病理和癌症呈相反方向相关。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlag051

Khine Zin Aung, Peter T Nelson, Xiaotong Ning, Xian Wu, Inori Tsuchiya, Shama Karanth, Erin L Abner, David W Fardo, Yuriko Katsumata

{"title":"GRN rs5848 variant associates with TDP-43 pathology and cancer in opposite directions.","authors":"Khine Zin Aung, Peter T Nelson, Xiaotong Ning, Xian Wu, Inori Tsuchiya, Shama Karanth, Erin L Abner, David W Fardo, Yuriko Katsumata","doi":"10.1093/jnen/nlag051","DOIUrl":"10.1093/jnen/nlag051","url":null,"abstract":"Epidemiologic studies have reported that cancer survivors have a relatively low risk of developing dementia, but the mechanisms underlying that inverse relationship are mostly unknown. The Granulin (GRN) gene single nucleotide variant rs5848 T allele is associated with increased risk of limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) and hippocampal sclerosis of aging (HS-Aging). The T allele is also associated with lower expression of the cognate protein progranulin (PGRN), which is a mitogen implicated in neoplasia. We examined whether the rs5848 variant associated with LATE-NC/HS-Aging pathology and cancer in the same cohort. This study leveraged genotype data from the Alzheimer's Disease Genomics Consortium (n = 8121) and the Alzheimer's Disease Sequencing Project (n = 3231), with cancer history and neuropathology data drawn from the National Alzheimer's Coordinating Center. The rs5848 T allele was associated with higher odds of LATE-NC (p < 0.001) and was also associated with lower odds of cancer (p = 0.012). Established TMEM106B, APOE, and BIN1 risk alleles for Alzheimer's disease showed no associations with cancer, implying that the GRN-related associations could not be completely explained by selection bias in the study sample. The finding of a specific allele with opposite correlative impact on cancer risk and dementia-related pathology has potential therapeutic implications.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"1003-1019"},"PeriodicalIF":3.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13314055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147987999","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

Persistent ultrastructural changes to callosal axons three months after repetitive brain injury across age groups. 重复脑损伤后3个月胼胝体轴突的持续超微结构变化。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlag092

Camila Ortiz, Igor Kraev, Radka Gromnicova, Andrew Pearson, Amanda Naaman, Michael Mullan, Fiona Crawford, Joseph Ojo

{"title":"Persistent ultrastructural changes to callosal axons three months after repetitive brain injury across age groups.","authors":"Camila Ortiz, Igor Kraev, Radka Gromnicova, Andrew Pearson, Amanda Naaman, Michael Mullan, Fiona Crawford, Joseph Ojo","doi":"10.1093/jnen/nlag092","DOIUrl":"https://doi.org/10.1093/jnen/nlag092","url":null,"abstract":"Repetitive mild traumatic brain injury (r-mTBI) is strongly associated with the increased risk of developing neurodegenerative diseases. Previously, we have revealed the histopathological, biochemical, and transcriptional changes following exposure to chronic r-mTBI in wild-type (WT) mice. Herein, we performed a complementary electron microscopy analysis in a young adult (3-month-old) WT cohort to reveal the ultrastructural changes observed 3 months following chronic r-mTBI. Additionally, because age at injury has been associated with an increased risk for poorer outcomes after TBI, an older WT cohort (12-month-old, middle-aged) was included to determine this relationship. While the cortical grey-matter exhibited minimal ultrastructural abnormalities after r-mTBI, we observed prominent TBI-related changes in the corpus callosum, including increased axonal g-ratios and higher density of degenerating axons in both cohorts. However, no age-dependent injury differences were observed across measured parameters, except for a notable TBI-dependent increase in phagolysosome-bearing perivascular cells within the corpus callosum of injured aged mice compared to younger TBI counterparts. Collectively, these findings suggest that chronic r-mTBI in young adulthood and middle age produces similar white matter ultrastructural changes 3 months after r-mTBI. Future studies are warranted to determine whether ultrastructural differences emerge with injuries administered earlier in life or at advanced age.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148874478","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

Disseminated BCGosis presenting as multiple intracranial lesions in an immunocompromised patient. 弥散性BCGosis在免疫功能低下患者中表现为多发性颅内病变。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlaf155

Melissa Mejia-Bautista, Giordano Sosa Soto, Brooks I Mitchell, Michael Robert Moravek, Kyle Conway, Isabella Reyes, Jared T Ahrendsen, Rudolph J Castellani, Chao Qi, Pouya Jamshidi

引用次数: 0

Exercise-induced acute thrombosis of a cavernous sinus hemangioma. 运动诱导的海绵窦血管瘤急性血栓形成。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlaf160

Liam N Locke, Linton T Evans, Adam P Boyle, Megan M Grivois, George J Zanazzi, Chun-Chieh Lin

引用次数: 0

Atherogenic-like lesions associated with a progressive chronic vascular degeneration in a rat model of repetitive low-level blast brain injury. 重复低水平爆炸脑损伤大鼠模型中与进行性慢性血管变性相关的动脉粥样硬化样病变。

IF 3.3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2026-09-01 DOI: 10.1093/jnen/nlag026

Miguel A Gama Sosa, Rita De Gasperi, Rachel H Lind, Dylan Pryor, Gissel M Perez, Georgina S Perez Garcia, Rania Abutarboush, Usmah Kawoos, Carolyn W Zhu, William G M Janssen, Patrick R Hof, Stephen T Ahlers, Gregory A Elder

{"title":"Atherogenic-like lesions associated with a progressive chronic vascular degeneration in a rat model of repetitive low-level blast brain injury.","authors":"Miguel A Gama Sosa, Rita De Gasperi, Rachel H Lind, Dylan Pryor, Gissel M Perez, Georgina S Perez Garcia, Rania Abutarboush, Usmah Kawoos, Carolyn W Zhu, William G M Janssen, Patrick R Hof, Stephen T Ahlers, Gregory A Elder","doi":"10.1093/jnen/nlag026","DOIUrl":"10.1093/jnen/nlag026","url":null,"abstract":"Repetitive low-level blast exposures in rats induce the development of a post-traumatic stress disorder (PTSD)-like phenotype and evolving chronic brain vascular alterations. These alterations included atherogenic-like lesions characterized by increased extravasation of blood elements into the arterial subendothelial layers, nuclear expression of c-Fos in endothelial and vascular smooth muscle cells, vascular hyperplasia, foam cell formation, and ultimately vascular rupture. Foam cells were mainly of macrophage/microglial or of vascular smooth muscle cell origin with upregulated expression of MHC II and of its co-stimulatory molecule CD86, which is characteristic of antigen-presenting cells. Foam cells also upregulated the lysosomal CD68 marker, indicating macrophage/microglial phagocytic and inflammatory activity. Foam cells of vascular smooth muscle cell origin were present at arteriolar bends, kinks, and bifurcations and were associated with a progressive arterial network degeneration in regions with enlarged perivascular spaces. Foam cell inclusions also contained the gelatinase MMP-9, which is involved in extracellular matrix degradation, and the pro-inflammatory cytokine TNF-α that further induces foam cell formation. These findings indicate that the chronic atherogenic lesions associated with blast-induced vascular degeneration may trigger a progressive pro-inflammatory state and expand the progressive vascular degeneration associated with the PTSD-like phenotype.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"975-991"},"PeriodicalIF":3.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13576070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774491","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