Neuropathology and Applied Neurobiology最新文献

{"title":"Fibrocartilaginous cerebral and spinal emboli: A report of two cases with histopathological confirmation.","authors":"Fouzia Ziad, David Wang, Andrew Chancellor, Zakier Hussain, Adam El-Dieb, Sanjeevan Pasupati, Thomas Robertson","doi":"10.1111/nan.12896","DOIUrl":"https://doi.org/10.1111/nan.12896","url":null,"abstract":"Department of Pathology, Waikato Hospital, Hamilton, New Zealand Department of Medicine, Auckland City Hospital, Auckland, New Zealand Department of Neurology, Tauranga Hospital, Tauranga, New Zealand Department of Neurosurgery, Waikato Hospital, Hamilton, New Zealand Department of Radiology, Tauranga Hospital, Tauranga, New Zealand Department of Cardiology, Waikato Hospital, Hamilton, New Zealand Pathology Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12896"},"PeriodicalIF":5.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9721546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-derived xenograft mouse models to investigate tropism to the central nervous system and retina of primary and secondary central nervous system lymphoma.","authors":"Lisa Kristina Isbell,&nbsp;Cordula Tschuch,&nbsp;Soroush Doostkam,&nbsp;Silvia Waldeck,&nbsp;Geoffroy Andrieux,&nbsp;Khalid Shoumariyeh,&nbsp;Dorothee Lenhard,&nbsp;Hans Eckart Schaefer,&nbsp;Peter Christoph Reinacher,&nbsp;Ingrid Bartsch,&nbsp;Milena Pantic,&nbsp;Janaki Manoja Vinnakota,&nbsp;Vinodh Kakkassery,&nbsp;Elisabeth Schorb,&nbsp;Florian Scherer,&nbsp;Anna Verena Frey,&nbsp;Melanie Boerries,&nbsp;Gerald Illerhaus,&nbsp;Justus Duyster,&nbsp;Julia Schueler,&nbsp;Nikolas von Bubnoff","doi":"10.1111/nan.12899","DOIUrl":"https://doi.org/10.1111/nan.12899","url":null,"abstract":"<p><strong>Aims: </strong>How and why lymphoma cells home to the central nervous system and vitreoretinal compartment in primary diffuse large B-cell lymphoma of the central nervous system remain unknown. Our aim was to create an in vivo model to study lymphoma cell tropism to the central nervous system.</p><p><strong>Methods: </strong>We established a patient-derived central nervous system lymphoma xenograft mouse model and characterised xenografts derived from four primary and four secondary central nervous system lymphoma patients using immunohistochemistry, flow cytometry and nucleic acid sequencing technology. In reimplantation experiments, we analysed dissemination patterns of orthotopic and heterotopic xenografts and performed RNA sequencing of different involved organs to detect differences at the transcriptome level.</p><p><strong>Results: </strong>We found that xenografted primary central nervous system lymphoma cells home to the central nervous system and eye after intrasplenic transplantation, mimicking central nervous system and primary vitreoretinal lymphoma pathology, respectively. Transcriptomic analysis revealed distinct signatures for lymphoma cells in the brain in comparison to the spleen as well as a small overlap of commonly regulated genes in both primary and secondary central nervous system lymphoma.</p><p><strong>Conclusion: </strong>This in vivo tumour model preserves key features of primary and secondary central nervous system lymphoma and can be used to explore critical pathways for the central nervous system and retinal tropism with the goal to find new targets for novel therapeutic approaches.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12899"},"PeriodicalIF":5.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9367743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.","authors":"Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Dina Pereira, Joana Afonso Ribeiro, Inês Cunha, Jeannette Huebener-Schmid, Mafalda Raposo, Ana F Ferreira, Jennifer Faber, Sandra Kuhs, Hector Garcia-Moreno, Kathrin Reetz, Andreas Thieme, Jon Infante, Bart P C van de Warrenburg, Paola Giunti, Olaf Riess, Ludger Schöls, Manuela Lima, Thomas Klockgether, Cristina Januário, Luís Pereira de Almeida","doi":"10.1111/nan.12892","DOIUrl":"10.1111/nan.12892","url":null,"abstract":"<p><p>The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12892"},"PeriodicalIF":5.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10947376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9423824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paths to hippocampal damage in neuromyelitis optica spectrum disorders.","authors":"Mona Zakani, Magdalini Nigritinou, Markus Ponleitner, Yoshiki Takai, Daniel Hofmann, Sophie Hillebrand, Romana Höftberger, Jan Bauer, Balint Lasztoczi, Tatsuro Misu, Gregor Kasprian, Paulus Rommer, Monika Bradl","doi":"10.1111/nan.12893","DOIUrl":"10.1111/nan.12893","url":null,"abstract":"<p><strong>Aims: </strong>Many patients with neuromyelitis optica spectrum disorders (NMOSD) suffer from cognitive impairment affecting memory, processing speed and attention and suffer from depressive symptoms. Because some of these manifestations could trace back to the hippocampus, several magnetic resonance imaging (MRI) studies have been performed in the past, with a number of groups describing volume loss of the hippocampus in NMOSD patients, whereas others did not observe such changes. Here, we addressed these discrepancies.</p><p><strong>Methods: </strong>We performed pathological and MRI studies on the hippocampi of NMOSD patients, combined with detailed immunohistochemical analysis of hippocampi from experimental models of NMOSD.</p><p><strong>Results: </strong>We identified different pathological scenarios for hippocampal damage in NMOSD and its experimental models. In the first case, the hippocampus was compromised by the initiation of astrocyte injury in this brain region and subsequent local effects of microglial activation and neuronal damage. In the second case, loss of hippocampal volume was seen by MRI in patients with large tissue-destructive lesions in the optic nerves or the spinal cord, and the pathological work-up of tissue derived from a patient with such lesions revealed subsequent retrograde neuronal degeneration affecting different axonal tracts and neuronal networks. It remains to be seen whether remote lesions and associated retrograde neuronal degeneration on their own are sufficient to cause extensive volume loss of the hippocampus, or whether they act in concert with small astrocyte-destructive, microglia-activating lesions in the hippocampus that escape detection by MRI, either due to their small size or due to the chosen time window for examination.</p><p><strong>Conclusions: </strong>Different pathological scenarios can culminate in hippocampal volume loss in NMOSD patients.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12893"},"PeriodicalIF":4.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10947283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9721106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington's disease.","authors":"Sofia Bergh,&nbsp;Sanaz Gabery,&nbsp;Simone Tonetto,&nbsp;Deniz Kirik,&nbsp;Åsa Petersén,&nbsp;Rachel Y Cheong","doi":"10.1111/nan.12891","DOIUrl":"https://doi.org/10.1111/nan.12891","url":null,"abstract":"<p><strong>Background: </strong>Early non-motor features including anxiety, depression and altered social cognition are present in Huntington's disease (HD). The underlying neurobiological mechanisms are not known. Oxytocin (OXT) is involved in the regulation of emotion, social cognition and metabolism, and our previous work showed that the OXT system is affected early in HD. The aim of the study was to investigate the potential causal relationship between the selective expression of mutant huntingtin (mHTT) in OXT neurons and the development of non-motor features and neuropathology.</p><p><strong>Methods: </strong>To express mHTT only in OXT neurons, we used a novel flex-switch adeno-associated viral vector design to selectively express either mHTT or wild-type HTT in the paraventricular nucleus of the hypothalamus using OXT-Cre-recombinase mice. We also performed a mirror experiment to selectively delete mHTT in OXT neurons using the BACHD mouse model. Mice underwent a battery of behavioural tests to assess psychiatric and social behaviours 3 months post-injection or at 2 months of age, respectively. Post-mortem analyses were performed to assess the effects on the OXT system.</p><p><strong>Results: </strong>Our results show that selective expression of mHTT in OXT neurons was associated with the formation of mHTT inclusions and a 26% reduction of OXT-immunopositive neurons as well as increased anxiety-like behaviours compared with uninjected mice. However, selective deletion of mHTT from OXT neurons alone was not sufficient to alter the metabolic and psychiatric phenotype of the BACHD mice at this early time point.</p><p><strong>Conclusions: </strong>Our results indicate that mHTT expression can exert cell-autonomous toxic effects on OXT neurons without affecting the non-motor phenotype at early time points in mice.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12891"},"PeriodicalIF":5.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9690407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Issue Information","authors":"","doi":"10.1111/nan.12823","DOIUrl":"https://doi.org/10.1111/nan.12823","url":null,"abstract":"No abstract is available for this article.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43159077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Occurrence of focal myositis during Behçet's disease: The identification of a specific vasculitis-associated focal myopathy.","authors":"Laure Gallay,&nbsp;Arnaud Hot,&nbsp;Yves Allenbach,&nbsp;Delphine Maucort-Boulch,&nbsp;Cloe Comarmond,&nbsp;Cindy Marques,&nbsp;Laurent Perard,&nbsp;Anne Simon,&nbsp;Kuberaka Mariampillai,&nbsp;Patrice Cacoub,&nbsp;Laure Mery-Bossard,&nbsp;Pascal Cathebras,&nbsp;Leonard Feasson,&nbsp;Alice Berezne,&nbsp;Chafika Morati,&nbsp;Lola Lessard,&nbsp;Marie Faruch,&nbsp;Nathalie Streichenberger,&nbsp;David Saadoun","doi":"10.1111/nan.12900","DOIUrl":"https://doi.org/10.1111/nan.12900","url":null,"abstract":"<p><strong>Aims: </strong>This study aimed to report the association of focal myositis (FM) and Behçet's disease (BD) and to analyse the main characteristics of such an association.</p><p><strong>Methods: </strong>This is a retrospective multicentre study of patients with BD and FM (BD + FM+ group) and those without FM (BD - FM+ group). Clinical, laboratory, radiological, pathological, treatment and outcome data were analysed.</p><p><strong>Results: </strong>The BD + FM+ group included 10 patients; the median [interquartile range] age at BD diagnosis was 25 [16-35] years, and at FM diagnosis, it was 30 [26-42] years. The diagnosis of BD preceded FM in the majority of cases (n = 8/10). FM occurrence was associated with BD flare-ups in three cases. The creatine kinase levels remained normal or slightly increased. Histological analyses identified relatively preserved muscle tissue, associated with vasculitis (n = 5/6). All patients required treatment; most patients relapsed (n = 9/10). The BD - FM+ group included 35 patients. A comparison of the groups identified a trend towards a younger median age at diagnosis of FM among those with BD (p = 0.063) and more frequent focal muscle swelling in the BD + FM+ group (p = 0.029). The pathological analysis identified significantly less frequent muscle alterations in the BD + FM+ group (muscle fibre size heterogeneity, p = 0.021; necrosis, p = 0.007; and fibrosis, p = 0.027). BD + FM+ patients had a higher frequency of relapse (p = 0.003) and systematic treatment (p = 0.042).</p><p><strong>Conclusions: </strong>FM occurring during BD appears to be part of the systemic vasculitis process and presents as a vasculitis-associated focal myopathy with a specific clinico-histological pattern. Patients with this association require long-term follow-up and adapted management. This case series also highlights the need for research on BD diagnostic criteria in cases of FM.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12900"},"PeriodicalIF":5.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9366556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cover Image, Volume 49, Issue 2","authors":"Chia-Wei Huang, Kuang-Yung Lee, Peng-Tzu Lin, Fang-Shin Nian, Haw-Yuan Cheng, Chien-Hui Chang, Cheng-Yen Liao, Yen-Lin Su, Carol Seah, Ching Li, Yu-Fu Chen, Mei-Hsuan Lee, Jin-Wu Tsai","doi":"10.1111/nan.12901","DOIUrl":"https://doi.org/10.1111/nan.12901","url":null,"abstract":"The cover image is based on the Original Article <i>Muscleblind-Like 2 knockout shifts adducin 1 isoform expression and alters dendritic spine dynamics of cortical neurons during brain development</i> by Chia-Wei Huang et al., https://doi.org/10.1111/nan.12890.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"18 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2023-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138515864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"124th Meeting of the British Neuropathological Society The View, Royal College of Surgeons of England, Lincoln's Inn Fields, London","authors":"Z. Jaunmuktane, Sebastian, Brandner, G. Cruickshank","doi":"10.1111/nan.12881","DOIUrl":"https://doi.org/10.1111/nan.12881","url":null,"abstract":"SESSION I Chair: Caroline Sewry, RJAH Orthopaedic Hospital, Salford Royal Hospital & UCL-GOSH Dubowitz Neuromuscular Centre, UK 13:05–13:35 Muscle cell fusion during disease and opportunities for therapies Doug Millay, Cincinnati Children’s Hospital Medical Center, USA 13:35–14:05 The transcription factor Nfix in skeletal muscle development and muscular dystrophies Graziella Messina, University of Milan, Italy 14:05–14:35 Mechanisms of muscle mass regulation in health and disease Marco Sandri, University of Padova, Italy 14:35–15:00 Coffee break","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41697387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Poster Abstracts","authors":"","doi":"10.1111/nan.12883","DOIUrl":"https://doi.org/10.1111/nan.12883","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135947669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}