Arnault Tauziède-Espariat, Julien Masliah-Planchon, Suzanne Tran, Mathilde Filser, Raphaël Saffroy, Dorian Bochaton, Lauren Hasty, Suhan Senova, Paul Kauv, Karima Mokhtari, Clovis Adam, Nicolas Poté, Fabrice Chrétien, Alice Métais, Pascale Varlet, Franck Bielle, Alice Laurenge
{"title":"Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA-methylation profiling.","authors":"Arnault Tauziède-Espariat, Julien Masliah-Planchon, Suzanne Tran, Mathilde Filser, Raphaël Saffroy, Dorian Bochaton, Lauren Hasty, Suhan Senova, Paul Kauv, Karima Mokhtari, Clovis Adam, Nicolas Poté, Fabrice Chrétien, Alice Métais, Pascale Varlet, Franck Bielle, Alice Laurenge","doi":"10.1111/nan.12951","DOIUrl":"10.1111/nan.12951","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12951"},"PeriodicalIF":5.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830755","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}
Makoto Sainouchi, Shinya Oginezawa, Mari Tada, Tomohiko Ishihara, Osamu Onodera, Akiyoshi Kakita
{"title":"Slow disease progression and characteristic TDP-43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant.","authors":"Makoto Sainouchi, Shinya Oginezawa, Mari Tada, Tomohiko Ishihara, Osamu Onodera, Akiyoshi Kakita","doi":"10.1111/nan.12966","DOIUrl":"10.1111/nan.12966","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"50 1","pages":"e12966"},"PeriodicalIF":5.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139932214","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}
Sage Green, Travis Hoover, David Doss, Kimberly Davidow, Andrew W. Walter, Catherine E. Cottrell, Sidharth Mahapatra
{"title":"Cover Image, Volume 50, Issue 1","authors":"Sage Green, Travis Hoover, David Doss, Kimberly Davidow, Andrew W. Walter, Catherine E. Cottrell, Sidharth Mahapatra","doi":"10.1111/nan.12959","DOIUrl":"https://doi.org/10.1111/nan.12959","url":null,"abstract":"The cover image is based on the Short Communication <i>WNT-activated, MYC-amplifi ed medulloblastoma displaying intratumoural heterogeneity</i> by S. Green et al., https://doi.org/10.1111/nan.12945.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"148 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139552319","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}
Chaohu Wang, Huarong Zhang, Rongrong Guo, Ya'nan Cao, Jun Pan, Haoying Yu, Xiaoyu Qiu, Jin Shi, Jun Fan, Songtao Qi, Yi Liu
{"title":"Establishment and characterisation of STAM4, a novel human adamantinomatous craniopharyngioma cell line, through human telomerase reverse transcriptase ectopic expression-mediated immortalisation","authors":"Chaohu Wang, Huarong Zhang, Rongrong Guo, Ya'nan Cao, Jun Pan, Haoying Yu, Xiaoyu Qiu, Jin Shi, Jun Fan, Songtao Qi, Yi Liu","doi":"10.1111/nan.12958","DOIUrl":"https://doi.org/10.1111/nan.12958","url":null,"abstract":"Adamantinomatous craniopharyngioma (ACP) is a rare benign intracranial tumour that occurs in the sellar region and likely originates from the embryonic craniopharyngeal epithelium (a remnant of the ectoderm, also known as Rathke's pouch). However, progress in ACP research has been slow due to the lack of ACP cell lines. Therefore, in this study, we established an immortalised ACP cell line.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"4 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139552130","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}
Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M. Seferian, Edoardo Malfatti, Roberto Silva-Rojas, Clémence Labasse, Frédéric Chevessier, Pierre Carlier, Bruno Eymard, Norma B. Romero, Jocelyn Laporte, Laurent Servais, Teresa Gidaro, Johann Böhm
{"title":"Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation","authors":"Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M. Seferian, Edoardo Malfatti, Roberto Silva-Rojas, Clémence Labasse, Frédéric Chevessier, Pierre Carlier, Bruno Eymard, Norma B. Romero, Jocelyn Laporte, Laurent Servais, Teresa Gidaro, Johann Böhm","doi":"10.1111/nan.12952","DOIUrl":"https://doi.org/10.1111/nan.12952","url":null,"abstract":"Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disorder characterized by muscle weakness and fatigability. The LG-CMS gene <i>DPAGT1</i> codes for an essential enzyme of the glycosylation pathway, a posttranslational modification mechanism shaping the structure and function of proteins. In <i>DPAGT1</i>-related LG-CMS, reduced glycosylation of the acetylcholine receptor (AChR) reduces its localization at the neuromuscular junction (NMJ), and results in diminished neuromuscular transmission. LG-CMS patients also show tubular aggregates on muscle biopsy, but the origin and potential contribution of the aggregates to disease development are not understood. Here, we describe two LG-CMS patients with the aim of providing a molecular diagnosis and to shed light on the pathways implicated in tubular aggregate formation.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"58 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138825407","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}
Helena Bode, Catena Kresbach, Dörthe Holdhof, Mario M Dorostkar, Patrick N Harter, Jürgen Hench, Stephan Frank, Abigail K Suwala, Leonille Schweizer, Alicia Eckhardt, Sina Neyazi, Michael Bockmayr, Annika K Wefers, Ulrich Schüller
{"title":"Molecular refinement of pilocytic astrocytoma in adult patients.","authors":"Helena Bode, Catena Kresbach, Dörthe Holdhof, Mario M Dorostkar, Patrick N Harter, Jürgen Hench, Stephan Frank, Abigail K Suwala, Leonille Schweizer, Alicia Eckhardt, Sina Neyazi, Michael Bockmayr, Annika K Wefers, Ulrich Schüller","doi":"10.1111/nan.12949","DOIUrl":"https://doi.org/10.1111/nan.12949","url":null,"abstract":"<p><strong>Aim: </strong>Pilocytic astrocytomas (PA) in adults are rare and may be challenging to identify based only on histomorphology. Compared to their paediatric counterparts, they are reportedly molecularly more diverse and associated with a worse prognosis. We aimed to describe the characteristics of adult PAs more precisely by comprehensively profiling a series of 79 histologically diagnosed adult cases (≥18 years).</p><p><strong>Methods: </strong>We performed global DNA methylation profiling and DNA and RNA panel sequencing, and integrated the results with clinical data. We further compared the molecular characteristics of adult and paediatric PAs that had a significant match to one of the established PA methylation classes in the Heidelberg brain tumour classifier.</p><p><strong>Results: </strong>The mean age in our cohort was 33 years, and 43% of the tumours were located supratentorially. Based on methylation profiling, only 39% of the cases received a significant match to a PA methylation class. Sixteen per cent matched a different tumour type and 45% had a Heidelberg classifier score <0.9 with an affiliation to diverse established methylation classes in t-SNE analyses. Although the KIAA1549::BRAF fusion was found in 98% of paediatric PAs, this was true for only 27% of histologically defined and 55% of adult PAs defined by methylation profiling.</p><p><strong>Conclusions: </strong>A particularly high fraction of adult tumours with histological features of PA do not match current PA methylation classes, indicating ambiguous histology and an urgent need for molecular profiling. Moreover, even in adult PAs with a match to a PA methylation class, the distribution of genetic drivers differs significantly from their paediatric counterparts (p<0.01).</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12949"},"PeriodicalIF":5.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808426","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}
Adeline A Lau, Paul J Trim, Barbara M King, Sofia Hassiotis, Ya Hui Hung, Ashley I Bush, Marten F Snel, Kim M Hemsley
{"title":"Filipin complex-reactive brain lesions: a cautionary tale.","authors":"Adeline A Lau, Paul J Trim, Barbara M King, Sofia Hassiotis, Ya Hui Hung, Ashley I Bush, Marten F Snel, Kim M Hemsley","doi":"10.1111/nan.12950","DOIUrl":"https://doi.org/10.1111/nan.12950","url":null,"abstract":"<p><strong>Objective: </strong>Filipin complex is an autooxidation-prone fluorescent histochemical stain used in the diagnosis of Niemann-Pick Disease Type C (NP-C), a neurodegenerative lysosomal storage disorder. It is also widely used by researchers examining the distribution and accumulation of unesterified cholesterol in cell and animal models of neurodegenerative diseases including NP-C and Sanfilippo syndrome (mucopolysaccharidosis IIIA; MPS IIIA). Recently, it has been suggested to be useful in studying Alzheimer's and Huntington's disease. Given filipin's susceptibility to photobleaching, we sought to establish a quantitative biochemical method for free cholesterol measurement.</p><p><strong>Methods: </strong>Brain tissue from mice with MPS IIIA was stained with filipin. Total and free cholesterol in brain homogenates was measured using a commercially available kit and a quantitative LC-MS/MS assay was developed. Gangliosides GM1, GM2 and GM3 were also quantified using LC-MS/MS.</p><p><strong>Results: </strong>As anticipated, the MPS IIIA mouse brain displayed large numbers of filipin-positive intra-cytoplasmic inclusions, presumptively endo-lysosomes. Challenging the prevailing dogma, however, we found no difference in the amount of free cholesterol in MPS IIIA mouse brain homogenates cf. control tissue, using either the fluorometric kit or LC-MS/MS assay. Filipin has previously been reported to bind to GM1 ganglioside, however, this lipid does not accumulate in MPS IIIA cells/tissues. Using a fluorometric assay, we demonstrate for the first time that filipin cross-reacts with both GM2 and GM3 gangliosides, explaining the filipin-reactive inclusions observed in MPS IIIA brain cells.</p><p><strong>Conclusion: </strong>Filipin is not specific for free cholesterol, and positive staining in any setting should be interpreted with caution.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12950"},"PeriodicalIF":5.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808424","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}
Catherine Godfraind, Marie Coutelier, Daniel Pissaloux, Fabien Forest, Fanny Vandenbos, Martin Hasselblatt, Jean Boutonnat, Aurélien Coste, Sylvie Lantuejoul, Anne Mc Leer
{"title":"Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognizable by a specific epigenetic signature.","authors":"Catherine Godfraind, Marie Coutelier, Daniel Pissaloux, Fabien Forest, Fanny Vandenbos, Martin Hasselblatt, Jean Boutonnat, Aurélien Coste, Sylvie Lantuejoul, Anne Mc Leer","doi":"10.1111/nan.12948","DOIUrl":"https://doi.org/10.1111/nan.12948","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12948"},"PeriodicalIF":5.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808423","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}
Vincent Roy, Isabella Bienjonetti, Alyssa Brodeur, Laurence Dion-Albert, Lydia Touzel-Deschênes, Peter V Gould, Stephan Saikali, Robert Jr Laforce, François Gros-Louis
{"title":"LMNB1-duplication mediated nuclear architecture alteration and demyelination of cerebral white matter in a patient with ADLD.","authors":"Vincent Roy, Isabella Bienjonetti, Alyssa Brodeur, Laurence Dion-Albert, Lydia Touzel-Deschênes, Peter V Gould, Stephan Saikali, Robert Jr Laforce, François Gros-Louis","doi":"10.1111/nan.12947","DOIUrl":"https://doi.org/10.1111/nan.12947","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12947"},"PeriodicalIF":5.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808425","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}
Levente Szalardy, Bernadett Fakan, Rita Maszlag-Torok, Emil Ferencz, Zita Reisz, Bence L. Radics, Sandor Csizmadia, Laszlo Szpisjak, Adam Annus, Denes Zadori, Gabor G. Kovacs, Peter Klivenyi
{"title":"Identifying diagnostic and prognostic factors in cerebral amyloid angiopathy-related inflammation: a systematic analysis of published and seven new cases","authors":"Levente Szalardy, Bernadett Fakan, Rita Maszlag-Torok, Emil Ferencz, Zita Reisz, Bence L. Radics, Sandor Csizmadia, Laszlo Szpisjak, Adam Annus, Denes Zadori, Gabor G. Kovacs, Peter Klivenyi","doi":"10.1111/nan.12946","DOIUrl":"https://doi.org/10.1111/nan.12946","url":null,"abstract":"Cerebral amyloid angiopathy-related inflammation (CAA-RI) is a potentially reversible manifestation of CAA, histopathologically characterised by transmural and/or perivascular inflammatory infiltrates. We aimed to identify clinical, radiological, and laboratory variables capable of improving or supporting the diagnosis of or predicting/influencing the prognosis of CAA-RI and to retrospectively evaluate different therapeutic approaches.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"7 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138683455","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}
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