首页 > 最新文献

Journal of Neuropathology and Experimental Neurology最新文献

英文 中文
Correlating hippocampal and amygdala volumes with neuropathological burden in Down syndrome and Alzheimer's disease and related neurodegenerative pathologies using 7T postmortem MRI.
IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-10 DOI: 10.1093/jnen/nlaf010
Jr-Jiun Liou, Jinghang Li, Jacob Berardinelli, Hecheng Jin, Tales Santini, Jaehoon Noh, Nadim Farhat, Minjie Wu, Howard J Aizenstein, Joseph M Mettenburg, William H Yong, Elizabeth Head, Milos D Ikonomovic, Tamer S Ibrahim, Julia K Kofler

Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC), is common in elderly brains and often seen in conjunction with Alzheimer's disease neuropathologic change (ADNC). LATE-NC typically begins in the amygdala and spreads to the hippocampus and neocortex. Whether it contributes to hippocampal and amygdala atrophy in Down syndrome (DS) remains unexplored. We analyzed amygdala and hippocampal volumes and neuropathological burden in 12 DS cases and 54 non-DS cases with AD and related neurodegenerative pathologies (ADRNP) using 7 Tesla (7T) postmortem ex vivo MRI. Postmortem and antemortem hippocampal volumes were significantly correlated in a subset of 17 cases with available antemortem MRI scans. DS cases had smaller hippocampal and amygdala volumes than ADRNP cases; these correlated with more severe Braak stage but not with Thal phase. LATE-NC and hippocampal sclerosis (HS) were uncommon in DS cases. In ADRNP cases, lower hippocampal volumes associated with dementia duration, advanced Thal phase, Braak NFT stage, C score, LATE-NC stage, HS and arteriolosclerosis severity; reduced amygdala volumes correlated with severe LATE-NC stage, HS, and arteriolosclerosis severity, but not with Thal phase or Braak NFT stage. Lewy body pathology did not affect hippocampal or amygdala volume in either cohort. Thus, hippocampal volumes in ADRNP were influenced by both ADNC and LATE-NC, and amygdala volumes were primarily influenced by LATE-NC. In DS, hippocampal and amygdala volumes were primarily influenced by tau pathology.

{"title":"Correlating hippocampal and amygdala volumes with neuropathological burden in Down syndrome and Alzheimer's disease and related neurodegenerative pathologies using 7T postmortem MRI.","authors":"Jr-Jiun Liou, Jinghang Li, Jacob Berardinelli, Hecheng Jin, Tales Santini, Jaehoon Noh, Nadim Farhat, Minjie Wu, Howard J Aizenstein, Joseph M Mettenburg, William H Yong, Elizabeth Head, Milos D Ikonomovic, Tamer S Ibrahim, Julia K Kofler","doi":"10.1093/jnen/nlaf010","DOIUrl":"https://doi.org/10.1093/jnen/nlaf010","url":null,"abstract":"<p><p>Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC), is common in elderly brains and often seen in conjunction with Alzheimer's disease neuropathologic change (ADNC). LATE-NC typically begins in the amygdala and spreads to the hippocampus and neocortex. Whether it contributes to hippocampal and amygdala atrophy in Down syndrome (DS) remains unexplored. We analyzed amygdala and hippocampal volumes and neuropathological burden in 12 DS cases and 54 non-DS cases with AD and related neurodegenerative pathologies (ADRNP) using 7 Tesla (7T) postmortem ex vivo MRI. Postmortem and antemortem hippocampal volumes were significantly correlated in a subset of 17 cases with available antemortem MRI scans. DS cases had smaller hippocampal and amygdala volumes than ADRNP cases; these correlated with more severe Braak stage but not with Thal phase. LATE-NC and hippocampal sclerosis (HS) were uncommon in DS cases. In ADRNP cases, lower hippocampal volumes associated with dementia duration, advanced Thal phase, Braak NFT stage, C score, LATE-NC stage, HS and arteriolosclerosis severity; reduced amygdala volumes correlated with severe LATE-NC stage, HS, and arteriolosclerosis severity, but not with Thal phase or Braak NFT stage. Lewy body pathology did not affect hippocampal or amygdala volume in either cohort. Thus, hippocampal volumes in ADRNP were influenced by both ADNC and LATE-NC, and amygdala volumes were primarily influenced by LATE-NC. In DS, hippocampal and amygdala volumes were primarily influenced by tau pathology.</p>","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597038","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
Cortical variant multiple sclerosis presenting clinically as Lewy body dementia.
IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-06 DOI: 10.1093/jnen/nlaf015
Delaney Liskey, Alexia R Maier, Shunsuke Koga, Sarosh Irani, Neill Graff-Radford, Keith A Josephs, Dennis W Dickson, Shanu F Roemer
{"title":"Cortical variant multiple sclerosis presenting clinically as Lewy body dementia.","authors":"Delaney Liskey, Alexia R Maier, Shunsuke Koga, Sarosh Irani, Neill Graff-Radford, Keith A Josephs, Dennis W Dickson, Shanu F Roemer","doi":"10.1093/jnen/nlaf015","DOIUrl":"https://doi.org/10.1093/jnen/nlaf015","url":null,"abstract":"","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573211","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
Insights in the underlying pathophysiology of brain malformations associated with VRK1-related syndrome derived from fetal neuropathology.
IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-06 DOI: 10.1093/jnen/nlaf014
Aude Tessier, Olivier Monestier, François Guillaume Debray, Fréderic Vauthier, Valerie Benoit, Kim Van Berkel, Leila Ghassemi, Stefanie Brock
{"title":"Insights in the underlying pathophysiology of brain malformations associated with VRK1-related syndrome derived from fetal neuropathology.","authors":"Aude Tessier, Olivier Monestier, François Guillaume Debray, Fréderic Vauthier, Valerie Benoit, Kim Van Berkel, Leila Ghassemi, Stefanie Brock","doi":"10.1093/jnen/nlaf014","DOIUrl":"https://doi.org/10.1093/jnen/nlaf014","url":null,"abstract":"","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573250","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
Re: Article by Machaalani et al. concerning dentate gyrus dysplasia.
IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-02 DOI: 10.1093/jnen/nlaf011
Douglas C Miller
{"title":"Re: Article by Machaalani et al. concerning dentate gyrus dysplasia.","authors":"Douglas C Miller","doi":"10.1093/jnen/nlaf011","DOIUrl":"https://doi.org/10.1093/jnen/nlaf011","url":null,"abstract":"","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557188","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
Maximum contrast projection: A powerful tool for biomedical image stack analysis.
IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-02 DOI: 10.1093/jnen/nlaf013
Nat Adamian, Christopher Guirguis, Ansel Link, Nate Jowett, Iván Coto Hernández

Maximum intensity projection is a simple post-hoc dimension reduction approach that yields sharp 2-dimensional images from image stacks but is limited by low signal or high background. Herein, we demonstrated improvement in image contrast using maximum contrast versus maximum intensity projection in 3-dimensional phase-contrast and quantitative phase imaging of frozen cross-sections of murine peripheral nerve. Fresh frozen murine sciatic nerve sections were imaged using 3-dimensional fluorescence, phase-contrast, and quantitative phase microscopy. Images were processed using maximum intensity and maximum contrast projection. Higher image contrast of nerve morphology was obtained when the images were processed with maximum contrast projection. Enhanced image contrast in quantitative phase imaging facilitated label-free multicolor imaging of murine peripheral nerves. Herein, we demonstrate the utility of maximum contrast projection in enhancing image contrast over intensity projection approaches in fluorescence phase-contrast and quantitative phase imaging of nerve histological samples. A user-friendly, open-source Python-based maximum contrast projection algorithm to facilitate the adoption of this technique is provided.

{"title":"Maximum contrast projection: A powerful tool for biomedical image stack analysis.","authors":"Nat Adamian, Christopher Guirguis, Ansel Link, Nate Jowett, Iván Coto Hernández","doi":"10.1093/jnen/nlaf013","DOIUrl":"https://doi.org/10.1093/jnen/nlaf013","url":null,"abstract":"<p><p>Maximum intensity projection is a simple post-hoc dimension reduction approach that yields sharp 2-dimensional images from image stacks but is limited by low signal or high background. Herein, we demonstrated improvement in image contrast using maximum contrast versus maximum intensity projection in 3-dimensional phase-contrast and quantitative phase imaging of frozen cross-sections of murine peripheral nerve. Fresh frozen murine sciatic nerve sections were imaged using 3-dimensional fluorescence, phase-contrast, and quantitative phase microscopy. Images were processed using maximum intensity and maximum contrast projection. Higher image contrast of nerve morphology was obtained when the images were processed with maximum contrast projection. Enhanced image contrast in quantitative phase imaging facilitated label-free multicolor imaging of murine peripheral nerves. Herein, we demonstrate the utility of maximum contrast projection in enhancing image contrast over intensity projection approaches in fluorescence phase-contrast and quantitative phase imaging of nerve histological samples. A user-friendly, open-source Python-based maximum contrast projection algorithm to facilitate the adoption of this technique is provided.</p>","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557165","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
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 Q2 CLINICAL 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
{"title":"Acquired intradiploic epidermoid cyst: A rare case report with literature review.","authors":"Jacob A Schroeder, Mohammed Sabawi, Amr H Masaadeh, Kathryn L Eschbacher, Nitesh Shekhrajka, Márcio Luís Duarte, Leonardo Furtado Freitas","doi":"10.1093/jnen/nlae106","DOIUrl":"10.1093/jnen/nlae106","url":null,"abstract":"","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"272-274"},"PeriodicalIF":3.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142468200","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
An analysis of RNA quality metrics in human brain tissue. 人脑组织中RNA质量指标的分析。
IF 3.2 3区 医学 Q2 CLINICAL 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

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.

人类脑组织研究已经使用了一系列指标来评估RNA质量,但很少有大规模的前测序质量指标与RNA-seq质量的交叉比较。我们分析了RNA-seq前的死后间隔(PMI)和RNA完整性数(RIN)与测序后的RNA质量(前10个基因的计数百分比[PTT], 5‘偏倚和3’偏倚)以及转录组中的单个基因计数之间的关系。我们分析了4组人类脑皮质组织(1组手术,3组尸检),采用不同的测序方案。死后时间与RIN呈低负相关(r = -0.258, P
{"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":"<p><p>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.</p>","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"236-243"},"PeriodicalIF":3.2,"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
Alzheimer disease-associated tau post-translational modification mimics impact tau propagation and uptake.
IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-21 DOI: 10.1093/jnen/nlaf007
John R Dickson, Robert G R Sobolewski, Analiese R Fernandes, Joanna M Cooper, Zhanyun Fan, Mirra Chung, Cameron Donahue, Derek H Oakley, Dudley K Strickland, Bradley T Hyman

As Alzheimer disease (AD) progresses, pathological tau spreads by cell-to-cell propagation of tau. This study aims to elucidate the impact of AD-associated post-translational modifications of tau-on-tau propagation. Tau propagation reporter constructs distinguishing donor cells from recipient cells were developed, and additional constructs were made with tau residues mutated from serine or threonine to aspartate to mimic the negative charge of a phosphorylation and/or from lysine to glutamine to mimic the charge-neutralizing effect of acetylation. Flow cytometry was used to quantify donor and recipient cells. This revealed that the mutations generally tended to reduce tau propagation compared to wildtype tau. Recombinant tau containing either wildtype or posttranslational modification mimicking mutations were used to treat Chinese hamster ovary cells or human induced pluripotent stem cell-derived neurons to quantify tau uptake, revealing that the mutations generally resulted in reduced uptake compared to wildtype tau. Surface plasmon resonance revealed that the mutations had a reduced affinity for lipoprotein receptor-related protein 1 (LRP1), a tau uptake receptor, compared to wildtype tau. Overall, these results suggest that AD-associated posttranslational modification mimicking mutations reduce the cell-to-cell propagation of tau by reducing tau uptake by recipient cells, which may be in part due to reduced binding affinity to LRP1.

{"title":"Alzheimer disease-associated tau post-translational modification mimics impact tau propagation and uptake.","authors":"John R Dickson, Robert G R Sobolewski, Analiese R Fernandes, Joanna M Cooper, Zhanyun Fan, Mirra Chung, Cameron Donahue, Derek H Oakley, Dudley K Strickland, Bradley T Hyman","doi":"10.1093/jnen/nlaf007","DOIUrl":"10.1093/jnen/nlaf007","url":null,"abstract":"<p><p>As Alzheimer disease (AD) progresses, pathological tau spreads by cell-to-cell propagation of tau. This study aims to elucidate the impact of AD-associated post-translational modifications of tau-on-tau propagation. Tau propagation reporter constructs distinguishing donor cells from recipient cells were developed, and additional constructs were made with tau residues mutated from serine or threonine to aspartate to mimic the negative charge of a phosphorylation and/or from lysine to glutamine to mimic the charge-neutralizing effect of acetylation. Flow cytometry was used to quantify donor and recipient cells. This revealed that the mutations generally tended to reduce tau propagation compared to wildtype tau. Recombinant tau containing either wildtype or posttranslational modification mimicking mutations were used to treat Chinese hamster ovary cells or human induced pluripotent stem cell-derived neurons to quantify tau uptake, revealing that the mutations generally resulted in reduced uptake compared to wildtype tau. Surface plasmon resonance revealed that the mutations had a reduced affinity for lipoprotein receptor-related protein 1 (LRP1), a tau uptake receptor, compared to wildtype tau. Overall, these results suggest that AD-associated posttranslational modification mimicking mutations reduce the cell-to-cell propagation of tau by reducing tau uptake by recipient cells, which may be in part due to reduced binding affinity to LRP1.</p>","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472566","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
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 Q2 CLINICAL 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
{"title":"Detection of rare and novel gene fusions in patients with diffuse glioma: An institutional retrospective study.","authors":"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","doi":"10.1093/jnen/nlae105","DOIUrl":"10.1093/jnen/nlae105","url":null,"abstract":"","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":"269-271"},"PeriodicalIF":3.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348692","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
Mesencephalosynapsis and aqueductal stenosis. 中脑突触和导水管狭窄。
IF 3.2 3区 医学 Q2 CLINICAL 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

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.

中脑突触症的特征是脑干背侧丘不能分离成明显的侧块(非裂裂,又称非裂裂)。“融合”)。它与心室肿大和导水管狭窄有关,但其他关联尚未系统研究。我们回顾了大量的胎儿脑积水病例,以探讨导水管狭窄、中脑突触和其他病理的关系。115例胎儿梗阻性脑积水(妊娠15 ~ 41周)中,中脑突触44例(38.3%)。我们对大范围的异常输水管组织进行分级;中脑突触症与67%的重度、35%的轻度和10%的交界性导水管病变相关。在75%的病例中,它与其他中枢神经系统异常相关,包括形脑突触、前脑全裂、面肌小畸形和羊膜破裂序列。我们还发现2例导水管狭窄合并脑干被盖损伤,可能是缺血性的,没有中脑突触。中脑突触症的临床和遗传关联包括糖尿病胚胎病、羊膜破裂序列、染色体异常以及TBCD132、FRAS1和NECTIN1基因突变。这是迄今为止关于胎儿输水管狭窄的最大的组织学综述。我们的结论是,中脑突触症指向胚胎脑干模式的缺陷,可能是孤立的,与其他畸形有关,并且在遗传和非遗传条件下都可以发现。
{"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":"<p><p>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.</p>","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
期刊
Journal of Neuropathology and Experimental Neurology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1