Journal of Neuropathology and Experimental Neurology最新文献_第7页

Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review. 鲁宾斯坦-泰比综合征中的脑膜瘤：病例报告和综合综述。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-04-01 DOI: 10.1093/jnen/nlae135

Andrea Chen, Shannon Louise Hart, Melissa Lannon, Cynthia Hawkins, Kesava K V Reddy, Jian-Qiang Lu

{"title":"Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review.","authors":"Andrea Chen, Shannon Louise Hart, Melissa Lannon, Cynthia Hawkins, Kesava K V Reddy, Jian-Qiang Lu","doi":"10.1093/jnen/nlae135","DOIUrl":"10.1093/jnen/nlae135","url":null,"abstract":"Rubinstein-Taybi syndrome (RTS) is a congenital disorder with characteristic clinical manifestations. In the vast majority of cases, it is caused by mutations of the gene encoding the transcriptional co-activator cAMP-response element binding protein (CBP)-binding protein (CREBBP). It has been thought to be a tumor predisposition syndrome as RTS patients have an increased risk of developing tumors including meningiomas. However, RTS-associated meningiomas are rarely reported. We report a unique RTS-associated meningioma in which an oncogenic CREBBP mutation is identified. We also comprehensively review the reported RTS-associated meningiomas, from epidemiology and pathogenesis to clinicopathological characteristics and treatment. All RTS patients with meningiomas are female and have the exclusive mutations of CREBBP. In population-based studies RTS-associated meningiomas seem to develop at younger ages. Their pathogenesis may be driven by the CREBBP/CBP alterations resulting in aberrant signal transduction in the CBP-mediated signaling pathways. Meningiomas in RTS patients have common clinicopathological characteristics including comorbidity with other tumors, radiologically intra-osseous growth, and uncommon histopathology such as ossifying and secretory features. Given the genetic nature and rarity of RTS-associated meningiomas, further investigation of their characteristics may define molecular targets for improved therapeutic options for RTS patients.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"329-336"},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909854","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

α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation. α-突触核蛋白在帕金森病嗅觉黏膜和皮肤神经中的分布与EIF4G1基因突变相关

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-04-01 DOI: 10.1093/jnen/nlaf001

Arianna Braccia, Antonio Emanuele Elia, Grazia Devigili, Raffaella Lombardi, Alessia Luppino, Samanta Mazzetti, Celeste Panteghini, Isabel Colangelo, Marta Suerz, Sara Maria Portaleone, Anna Maria Perilli, Chiara Maria Giulia De Luca, Arianna Ciullini, Ilaria Linda Dellarole, Roberta Telese, Barbara Garavaglia, Fabio Moda, Roberto Eleopra

{"title":"α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.","authors":"Arianna Braccia, Antonio Emanuele Elia, Grazia Devigili, Raffaella Lombardi, Alessia Luppino, Samanta Mazzetti, Celeste Panteghini, Isabel Colangelo, Marta Suerz, Sara Maria Portaleone, Anna Maria Perilli, Chiara Maria Giulia De Luca, Arianna Ciullini, Ilaria Linda Dellarole, Roberta Telese, Barbara Garavaglia, Fabio Moda, Roberto Eleopra","doi":"10.1093/jnen/nlaf001","DOIUrl":"10.1093/jnen/nlaf001","url":null,"abstract":"The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.Gly406Arg). We used the Burghart Sniffin Sticks test for olfactory function. α-Synuclein distribution in the olfactory mucosa and skin samples was analyzed using RT-QuIC, double immunofluorescence, and immunohistochemical staining. Both patients presented with a mild motor syndrome associated with hyposmia as prominent traits; pathological α-synuclein deposits were found in the olfactory mucosa but not in the skin. The phenotype and the findings in peripheral tissues suggest that PARK18 could manifest as a \"benign\" form of PD associated with hyposmia, with a slow progression and sparse α-synuclein accumulation in the peripheral nervous system.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"286-292"},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047021","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

Cytoplasmic expression of trans-active response DNA-binding protein-43 in aged mice display hippocampal sclerosis-like degeneration and neuronal loss with reduced lifespan. 衰老小鼠细胞质表达的反式反应dna结合蛋白43表现出海马硬化样变性和神经元丧失，寿命缩短。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-04-01 DOI: 10.1093/jnen/nlae137

Ashley J Anderson, Matthew B Dopler, Sanaz Arezoumandan, Damian Osei-Kankam, Stephani A Davis, Kaouther Ajroud, Jaclyn Lilek, Eva Bambakadis, Rachel Shapiro, Margaret E Flanagan, Nigel J Cairns, Michael A Gitcho

{"title":"Cytoplasmic expression of trans-active response DNA-binding protein-43 in aged mice display hippocampal sclerosis-like degeneration and neuronal loss with reduced lifespan.","authors":"Ashley J Anderson, Matthew B Dopler, Sanaz Arezoumandan, Damian Osei-Kankam, Stephani A Davis, Kaouther Ajroud, Jaclyn Lilek, Eva Bambakadis, Rachel Shapiro, Margaret E Flanagan, Nigel J Cairns, Michael A Gitcho","doi":"10.1093/jnen/nlae137","DOIUrl":"10.1093/jnen/nlae137","url":null,"abstract":"Trans-active response DNA-binding protein-43 (TDP-43) is the major pathological protein in motor neuron disease and TDP-43 pathology has been described in the brains of up to 50% of patients with Alzheimer disease (AD). Hippocampal sclerosis of aging (HS-A), an age-related neuropathology characterized by severe neuronal loss and gliosis in CA1 and/or subiculum, is found in ∼80% of cases that are positive for phosphorylated TDP-43. HS-A is seen as a co-pathology in cases with AD, limbic-predominant age-related TDP-43 encephalopathy neuropathologic changes (LATE-NC), and frontotemporal degeneration. To understand the pathogenetic relationships between HS-A and LATE-NC, mice that selectively express human TDP-43 and TDP-43 with a defective nuclear localization signal (ΔNLS) in the hippocampus, alone or in an APP/PSEN1 background, were evaluated using histology, HALO software's object recognition algorithms, and protein expression assays. Twenty-four-month-old mice expressing cytosolic TDP-43 displayed marked neuronal loss and atrophy in the hippocampus, decreased β-amyloid plaque deposition and modulation of microglia and intermediate filament activation. TDP-43ΔNLS-expressing mice survived to only ∼24 months of age whether or not they had an APP/PSEN1 background. This HS-A-like model may provide insights into the pathogenesis of neurodegeneration seen in HS-A and in other TDP-43 proteinopathies.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"293-304"},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046844","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

Star-shaped TDP-43 inclusions in the oldest-old. 在最古老的植物中存在星形 TDP-43 包涵体。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-04-01 DOI: 10.1093/jnen/nlae116

Erin E Connolly, John F Ervin, Brenda L Plassman, Kathleen A Welsh-Bohmer, Shih-Hsiu J Wang

引用次数: 0

Low-grade glial/glioneuronal tumor with YAP1::FAM118B fusion: A novel molecular finding. YAP1::FAM118B融合的低级别胶质/神经胶质细胞瘤：一项新的分子发现

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-04-01 DOI: 10.1093/jnen/nlae103

Fouad El-Dana, Kenneth Aldape, Zied Abdullaev, Sameer Anil Sheth, Jacob Mandel, Hsiang-Chih Lu

引用次数: 0

Aberrant accumulation of phosphorylated BRCA1 in brainstem-type and cortical-type Lewy bodies in Lewy body disease. 路易体病中脑干型和皮质型路易体中磷酸化BRCA1的异常积累

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-04-01 DOI: 10.1093/jnen/nlaf004

Masataka Nakamura, Aya Murakami, Dennis W Dickson, Yusuke Yakushiji

{"title":"Aberrant accumulation of phosphorylated BRCA1 in brainstem-type and cortical-type Lewy bodies in Lewy body disease.","authors":"Masataka Nakamura, Aya Murakami, Dennis W Dickson, Yusuke Yakushiji","doi":"10.1093/jnen/nlaf004","DOIUrl":"10.1093/jnen/nlaf004","url":null,"abstract":"BRCA1 plays important roles in several biological events during the DNA damage response (DDR). We aimed to determine whether cytoplasmic accumulation of BRCA1 or its phosphorylated form, pBRCA1, is specific to cytoplasmic inclusions in tauopathies, or if it also occurs in α-synuclein-positive inclusions in Lewy body disease (LBD). Using brain tissue from pure LBD, LBD with Alzheimer disease (AD) co-pathology (LBD-AD), and control cases, the immunohistochemical distributions of BRCA1, pBRCA1, its binding partner BARD1, and 53BP1 were examined. The results showed that pBRCA1 (Ser1423) and BARD1 accumulated in brainstem-type Lewy bodies (LBs), whereas only pBRCA1 (Ser1423) was present in cortical-type LBs. There was no significant difference in the frequency of pBRCA1 (Ser1423)-positive LBs between the pure LBD and LBD-AD cases. pBRCA1 (Ser1423) was minimally detected in neuronal nuclei in controls and was absent in neuronal nuclei in LBD cases. In control and LBD cases, 53BP1-immunoreactive deposits were present in the neuronal nuclei. Thus, DDR dysfunction due to cytoplasmic sequestration of pBRCA1 (Ser1423) may play a role in LBD pathogenesis. Additionally, the selective accumulation of BARD1 in brainstem-type LBs, but not cortical-type LBs, points to distinct mechanisms in the formation of these inclusion types, offering further insights into LBD pathology.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"276-285"},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189702","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

Acquired intradiploic epidermoid cyst: A rare case report with literature review. 后天性腹膜内表皮样囊肿：罕见病例报告及文献综述

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-02-21 DOI: 10.1093/jnen/nlae106

Jacob A Schroeder, Mohammed Sabawi, Amr H Masaadeh, Kathryn L Eschbacher, Nitesh Shekhrajka, Márcio Luís Duarte, Leonardo Furtado Freitas

引用次数: 0

An analysis of RNA quality metrics in human brain tissue. 人脑组织中RNA质量指标的分析。

IF 3 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-02-21 DOI: 10.1093/jnen/nlae132

Jiahe Tian, Tiffany G Lam, Sophie K Ross, Benjamin Ciener, Sandra Leskinen, Sharanya Sivakumar, David A Bennett, Vilas Menon, Guy M McKhann, Alexi Runnels, Andrew F Teich

{"title":"An analysis of RNA quality metrics in human brain tissue.","authors":"Jiahe Tian, Tiffany G Lam, Sophie K Ross, Benjamin Ciener, Sandra Leskinen, Sharanya Sivakumar, David A Bennett, Vilas Menon, Guy M McKhann, Alexi Runnels, Andrew F Teich","doi":"10.1093/jnen/nlae132","DOIUrl":"10.1093/jnen/nlae132","url":null,"abstract":"Human brain tissue studies have used a range of metrics to assess RNA quality but there are few large-scale cross-comparisons of presequencing quality metrics with RNA-seq quality. We analyzed how postmortem interval (PMI) and RNA integrity number (RIN) before RNA-seq relate to RNA quality after sequencing (percent of counts in top 10 genes [PTT], 5' bias, and 3' bias), and with individual gene counts across the transcriptome. We analyzed 4 human cerebrocortical tissue sets (1 surgical, 3 autopsy), sequenced with varying protocols. Postmortem interval and RIN had a low inverse correlation (down to r = -0.258, P < .001 across the autopsy cohorts); both PMI and RIN showed consistent and opposing correlations with PTT (up to r = 0.215, P < .001 for PMI and down to r = -0.677, P < .001 for RIN across the autopsy cohorts). Unlike PMI, RIN showed consistent correlations with measurements of 3' and 5' bias in autopsies (r = -0.366, P < .001 with 3' bias). RNA integrity number correlated with 3933 genes across the 4 datasets vs 138 genes for PMI. Neuronal and immune response genes correlated positively and negatively with RIN, respectively. Thus, different gene sets have divergent relationships with RIN. These analyses suggest that conventional metrics of RNA quality have varying values and that PMI has an overall modest effect on RNA quality.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"236-243"},"PeriodicalIF":3.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882208","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

Detection of rare and novel gene fusions in patients with diffuse glioma: An institutional retrospective study. 弥漫性胶质瘤患者罕见和新型基因融合的检测：一项机构回顾性研究。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-02-21 DOI: 10.1093/jnen/nlae105

Kentaro Ohara, Majd Al Assaad, Samantha N McNulty, Hussein Alnajar, Andrea Sboner, David C Wilkes, Feng He, Jenny Zhaoying Xiang, Susan Mathew, Olivier Elemento, David J Pisapia, Juan Miguel Mosquera

引用次数: 0

Mesencephalosynapsis and aqueductal stenosis. 中脑突触和导水管狭窄。

IF 3.2 3区医学

Journal of Neuropathology and Experimental Neurology Pub Date : 2025-02-21 DOI: 10.1093/jnen/nlae128

Yael Fisher, Patrick Shannon, Orli Greenberg, David Chitayat, Karen Chong, Susan Blaser, Shiri Shinar

{"title":"Mesencephalosynapsis and aqueductal stenosis.","authors":"Yael Fisher, Patrick Shannon, Orli Greenberg, David Chitayat, Karen Chong, Susan Blaser, Shiri Shinar","doi":"10.1093/jnen/nlae128","DOIUrl":"10.1093/jnen/nlae128","url":null,"abstract":"Mesencephalosynapsis is characterized by a failure of the dorsal brainstem colliculi to separate into distinct lateral masses (non-cleavage, a.k.a. \"fusion\"). It is linked to ventriculomegaly and aqueductal stenosis but other associations have not been systematically examined. We reviewed a large cohort of fetal hydrocephalus cases to explore associations of aqueductal stenosis, mesencephalosynapsis, and other pathologies. Among 115 cases of fetal obstructive hydrocephalus (15-41 weeks gestation), mesencephalosynapsis was seen in 44 cases (38.3%). We graded the wide range of abnormal aqueductal histology; mesencephalosynapsis was associated with 67% of severe, 35% of mild, and 10% of borderline aqueductal pathologies. In 75% of cases, it was associated with other CNS anomalies, including rhombencephalosynapsis, holoprosencephaly, hemifacial microsomia, and amniotic rupture sequence. We also identified 2 cases of aqueductal stenosis associated with brainstem tegmental injury, probably ischemic in origin, without mesencephalosynapsis. Clinical and genetic associations of mesencephalosynapsis included diabetic embryopathy, amniotic rupture sequence, chromosomal abnormalities, and mutations in TBCD132, FRAS1, and NECTIN1. This is the largest review of the histology of fetal aqueductal stenosis to date. We conclude that mesencephalosynapsis points to a defect in embryonic brainstem patterning and may be isolated, associated with other malformations, and that it is found in heritable and non-heritable conditions.","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"195-209"},"PeriodicalIF":3.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806838","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