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Atypical teratoid/rhabdoid tumour‐TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-03-16 Julieann C. Lee, Quynh T. Tran, Rose B. McGee, Melissa R. Perrino, Santhosh A. Upadhyaya, Emily M. Hanzlik, Nicholas Pytel, Andrew J. Carroll, Wilda Orisme, Mohammad Eldomery, Lu Wang, Patrick R. Blackburn, Larissa V. Furtado, Angela N. Viaene, Minjie Luo, Jennifer M. Kalish, Soniya N. Pinto, Asim K. Bag, Brent A. Orr
CONFLICT OF INTEREST STATEMENT The authors declare they have no conflict of interest related to this study.
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A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-03-13 Selene Cipri, Giada Del Baldo, Andrea Carai, Antonella Cacchione, Emanuele Agolini, Antonio Novelli, Sabrina Rossi, Giovanna Stefania Colafati, Luigi Boccuto, Angela Mastronuzzi
The MutY DNA Glycosylase (MUTYH) gene is a primary component of the base excision repair (BER) pathway.1 It plays a role in fixing DNA damage caused by environmental factors, particularly in G:C to T:A transversions that result from guanine oxidation.1, 2 Biallelic germline pathogenic variants in MUTYH have been associated with a type of adenomatous polyposis affecting the colon and duodenum, known
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Automated whole slide morphometry of sural nerve biopsy using machine learning Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-03-06 Daisuke Ono, Honami Kawai, Hiroya Kuwahara, Takanori Yokota
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Issue Information Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-29
No abstract is available for this article.
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Mechanisms of COVID‐19‐associated olfactory dysfunction Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-29 Koping Chang, Thomas Zaikos, Nicholas Kilner‐Pontone, Cheng‐Ying Ho
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Slow disease progression and characteristic TDP‐43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-23 Makoto Sainouchi, Shinya Oginezawa, Mari Tada, Tomohiko Ishihara, Osamu Onodera, Akiyoshi Kakita
CONFLICT OF INTEREST STATEMENT The authors declare that they have no conflict of interest.
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Comparative interactome mapping of Tau‐protein in classical and rapidly progressive Alzheimer's disease identifies subtype‐specific pathways Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-20 Abrar Younas, Neelam Younas, Muhammad Javed Iqbal, Isidre Ferrer, Inga Zerr
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Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-11 Ana M. Espinosa-Oliva, Rocío Ruiz, Manuel Sarmiento Soto, Antonio Boza-Serrano, Ana I. Rodriguez-Perez, María A. Roca-Ceballos, Juan García-Revilla, Marti Santiago, Sébastien Serres, Vasiliki Economopoulus, Ana E. Carvajal, María D. Vázquez-Carretero, Pablo García-Miranda, Oxana Klementieva, María J. Oliva-Martín, Tomas Deierborg, Eloy Rivas, Nicola R. Sibson, José L. Labandeira-García, Alberto Machado
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Changes in the locus coeruleus during the course of Alzheimer's disease and their relationship to cortical pathology Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-05 Rebecca Beardmore, Matthew Durkin, Faizan Zayee-Mellick, Laurie C. Lau, James A. R. Nicoll, Clive Holmes, Delphine Boche
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Diagnostic value of CSF chromogranin A to discriminate between Alzheimer's disease and dementia with Lewy bodies Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-02-01 Olivier Bousiges, Thomas Lavaux, Catherine Demuynck, Caroline Schaeffer-Agalède, Nathalie Philippi, Candice Muller, Benjamin Cretin, Frédéric Blanc
Chromogranin A (CgA) seems to be involved in the pathophysiology of different neurodegenerative pathologies such as Alzheimer's disease (AD) and dementia with Lewy Bodies (DLB). CgA is present in the aggregates of amyloid plaques and in Lewy bodies but CgA also has a function in neuroinflammatory processes via microglia. Our objective was to determine if there is a difference in the CgA concentration
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Cover Image, Volume 50, Issue 1 Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-01-24 Sage Green, Travis Hoover, David Doss, Kimberly Davidow, Andrew W. Walter, Catherine E. Cottrell, Sidharth Mahapatra
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Issue Information Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-01-24
No abstract is available for this article.
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Establishment and characterisation of STAM4, a novel human adamantinomatous craniopharyngioma cell line, through human telomerase reverse transcriptase ectopic expression-mediated immortalisation Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2024-01-21 Chaohu Wang, Huarong Zhang, Rongrong Guo, Ya'nan Cao, Jun Pan, Haoying Yu, Xiaoyu Qiu, Jin Shi, Jun Fan, Songtao Qi, Yi Liu
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Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA-methylation profiling Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-20 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
Brain metastases from urothelial carcinoma are rare compared to other primary origins [1, 2]. Among the histopathological variants of urothelial carcinoma, neuroendocrine carcinoma (NEC), which includes large-cell and small-cell subtypes, is rare and associated with a poor prognosis [3]. In a recent review of central nervous system (CNS) metastases of urothelial carcinoma, none of them were reported
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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-20 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
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Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognisable by a specific epigenetic signature Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-19 Catherine Godfraind, Coutelier Marie, Daniel Pissaloux, Forest Fabien, Fanny Vandenbos, Martin Hasselblatt, Jean Boutonnat, Coste Aurélien, Lantuejoul Sylvie, Mc Leer Anne
Central neurocytomas are neuroepithelial tumours located in the lateral ventricles. They are composed of cells demonstrating neuronal differentiation. They were first described by Hassoun and colleagues [1] and are now characterised by a specific methylation class [2]. Lately, tumours located outside the lateral ventricles have been described as ‘extra-ventricular neurocytomas’ [3]. They demonstrate
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Filipin complex-reactive brain lesions: A cautionary tale Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-19 Adeline A. Lau, Paul J. Trim, Barbara M. King, Sofia Hassiotis, Ya Hui Hung, Ashley I. Bush, Marten F. Snel, Kim M. Hemsley
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Molecular refinement of pilocytic astrocytoma in adult patients Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-19 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
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LMNB1-duplication mediated nuclear architecture alteration and demyelination of cerebral white matter in a patient with ADLD Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-15 Vincent Roy, Isabella Bienjonetti, Alyssa Brodeur, Laurence Dion-Albert, Lydia Touzel-Deschênes, Peter V. Gould, Stephan Saikali, Robert Laforce, François Gros-Louis
Key points LMNB1 duplication displayed extensive myelin loss in the hemispheric white matter, affecting cerebellar and brainstem peduncles. Lamin B1 protein disorganisation affected the shape of the nuclei of oligodendrocytes in various CNS regions. Symmetrical myelin loss with intact oligodendrocytes and no signs of inflammation indicates a myelin maintenance-related pathogenesis, excluding immune
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WNT-activated, MYC-amplified medulloblastoma displaying intratumoural heterogeneity Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-13 Sage Green, Travis Hoover, David Doss, Kimberly Davidow, Andrew W. Walter, Catherine E. Cottrell, Sidharth Mahapatra
Key Points Treatment decisions critical to long-term outcomes for patients with medulloblastomas are based primarily on clinical features dividing patients into average-risk or high-risk. Heterogeneous features within tumours can present practical challenges to current diagnostic and treatment practices. Our communication highlights the need for multi-level sample testing incorporating not only histologic
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Identifying diagnostic and prognostic factors in cerebral amyloid angiopathy-related inflammation: A systematic analysis of published and seven new cases Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-12-13 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
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Issue Information Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-11-07
No abstract is available for this article.
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RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-10-11 Natalie Grima, Sidong Liu, Dean Southwood, Lyndal Henden, Andrew Smith, Albert Lee, Dominic B. Rowe, Susan D'Silva, Ian P. Blair, Kelly L. Williams
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A high-throughput single-cell RNA expression profiling method identifies human pericyte markers Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-10-09 Andras Sziraki, Yu Zhong, Allison M. Neltner, Dana M. Niedowicz, Colin B. Rogers, Donna M. Wilcock, Geetika Nehra, Janna H. Neltner, Rebecca R. Smith, Anika M. Hartz, Junyue Cao, Peter T. Nelson
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Quantitative cellular changes in multiple system atrophy brains Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-10-09 Alberte M. Andersen, Sanne S. Kaalund, Lisbeth Marner, Lisette Salvesen, Bente Pakkenberg, Mikkel V. Olesen
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CuII(atsm) significantly decreases microglial reactivity in patients with sporadic amyotrophic lateral sclerosis Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-10-05 Jeffrey R. Liddell, James B. W. Hilton, Peter J. Crouch
Dear Prof. T. S. Jacques: The copper compound CuII(atsm) (a.k.a. CuATSM) is neuroprotective in diverse mouse models of neurodegenerative disease and has progressed to clinical trials as a novel drug candidate. The first assessment of central nervous system tissue from amyotrophic lateral sclerosis (ALS) patients treated with CuII(atsm) was recently reported in Neuropathology and Applied Neurobiology
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Morphological alterations of the neuronal Golgi apparatus upon seizures Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-28 Anna Skupien-Jaroszek, Andrzej A. Szczepankiewicz, Andrzej Rysz, Andrzej Marchel, Ewa Matyja, Wiesława Grajkowska, Grzegorz M. Wilczynski, Joanna Dzwonek
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Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-27 Julia Keith, Patrick Shannon
Key Points Pathogenic variants in ISPD can cause lissencephaly type 2. The neuropathology associated with ISPD pathogenic variants also includes malformations of the brainstem, demonstrated herein, as well as previously described vascular lesions.
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Hippocampal and neocortical BRAF mutant non-expansive lesions in focal epilepsies Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-23 Julie Lerond, Bertrand Mathon, Mélina Scopin, Lucia Nichelli, Justine Guégan, Céline Bertholle, Brigitte Izac, Muriel Andrieu, Thomas Gareau, Florian Donneger, Badreddine Mohand Oumoussa, Franck Letourneur, Suzanne Tran, Mathilde Bertrand, Isabelle Le Roux, Mehdi Touat, Sophie Dupont, Jean Christophe Poncer, Vincent Navarro, Franck Bielle
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An autopsy case of late-onset spinocerebellar atrophy type 14 Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-13 Kyoka Ogawa, Yukiko Hata, Shojiro Ichimata, Koji Yoshida, Naoki Nishida
CONFLICT OF INTEREST The authors declare that they have no conflict of interest.
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Phosphorylation of MAP 1A regulates hyperphosphorylation of Tau in Alzheimer's disease model Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-13 Biao Cai, Nan Shao, Ting Ye, Peng Zhou, Wenwen Si, Hang Song, Guangyun Wang, Junping Kou
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Fibroblast growth factor 9 (FGF9)-mediated neurodegeneration: Implications for progressive multiple sclerosis? Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-13 Katja Thümmler, Claudia Wrzos, Jonas Franz, Daniel McElroy, John J. Cole, Lorna Hayden, Diana Arseni, Friedrich Schwarz, Andreas Junker, Julia M. Edgar, Sebastian Kügler, Andreas Neef, Fred Wolf, Christine Stadelmann, Christopher Linington
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Issue Information Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-09-04
No abstract is available for this article.
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Nanoscale reorganisation of synaptic proteins in Alzheimer's disease Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-08-23
In Zhu et al [1], the authors accidentally used a wrong image in the right panel of Figure 7C. It should have been: The authors sincerely apologize for this inaccuracy and any inconvenience this may have caused.
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Cover Image, Volume 49, Issue 4 Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-08-21 Abrar Alhindi, Megan Shand, Hannah L. Smith, Ana S. Leite, Yu-Ting Huang, Dinja van der Hoorn, Zara Ridgway, Kiterie M. E. Faller, Ross A. Jones, Thomas H. Gillingwater, Helena Chaytow
The cover image is based on the Original Article Neuromuscular junction denervation and terminal Schwann cell loss in the hTDP-43 overexpression mouse model of amyotrophic lateral sclerosis by Abrar Alhindi et al., https://doi.org/10.1111/nan.12925. Image Credit: Abrar Alhindi and Helena Chaytow.
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Methyl donor supplementation reduces phospho-Tau, Fyn and demethylated protein phosphatase 2A levels and mitigates learning and motor deficits in a mouse model of tauopathy Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-08-11 Annika van Hummel, Goce Taleski, Jean-Marie Sontag, Astrid Feentje Feiten, Yazi D. Ke, Lars M. Ittner, Estelle Sontag
Reduced folate status and elevated levels of circulating homocysteine are modifiable risk factors for cognitive decline and dementia. Disturbances in one-carbon metabolism are associated with the pathological accumulation of phosphorylated tau, a hallmark feature of prevalent dementia, including Alzheimer's disease and subgroups of frontotemporal dementia.
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First report of medulloblastoma in a patient with MUTYH-associated polyposis Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-31 Marie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, Bruno Buecher, Lisa Golmard, Voreak Suybeng, Mathias Schwartz, Ivan Bieche, Sophie Vacher, Valérie Laurence, Franck Bourdeaut, Michèle Bernier, Tom Gutman, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Chrystelle Colas
The mutY DNA glycosylase encoded by the MUTYH gene prevents G:C → T:A transversions through the base excision repair DNA repair system. Germline biallelic pathogenic variants in MUTYH cause an adenomatous polyposis called MUTYH-associated polyposis (MAP), an autosomal recessive disease (OMIM: 608456), with an increased risk of colorectal cancer. Digestive lesions in this context show an excess of G:C → T:A
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A threshold for mitotic activity and post-surgical residual volume defines distinct prognostic groups for astrocytoma IDH-mutant Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-28 Suzanne Tran, Alice Thomas, Ilyes Aliouat, Carine Karachi, Fernando Lozano, Karima Mokhtari, Caroline Dehais, Loïc Feuvret, Catherine Carpentier, Marine Giry, Abiba Doukani, Julie Lerond, Yannick Marie, Marc Sanson, Ahmed Idbaih, Alexandre Carpentier, Khê Hoang-Xuan, Mehdi Touat, Laurent Capelle, Franck Bielle
The distinction between CNS WHO grade 2 and grade 3 is instrumental in choosing between observational follow-up and adjuvant treatment for resected astrocytomas IDH-mutant. However, the criteria of CNS WHO grade 2 vs 3 have not been updated since the pre-IDH era.
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Adult-onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-26 Fouzia Ziad, Gert Cypers, Matthew Phillips, Piet Vanhoenacker, Arne Hostens, Satish Yadavraj, Duncan Lamont, Thomas Robertson
CONFLICT OF INTEREST STATEMENT The authors declare no funding or conflict of interest for this article.
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Ectopic expression of neuronal adenosine kinase, a biomarker in mesial temporal lobe epilepsy without hippocampal sclerosis Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-22 Mengyi Guo, Jing Wang, Zhonghua Xiong, Xiongfei Wang, Yujiao Yang, Yifan Zhang, Chongyang Tang, Jing Zhang, Yuguang Guan, Fan Chen, Kun Yao, Pengfei Teng, Jian Zhou, Feng Zhai, Detlev Boison, Guoming Luan, Tianfu Li
Mesial temporal lobe epilepsy without hippocampal sclerosis (no-HS MTLE) refers to those MTLE patients who have neither magnetic resonance imaging (MRI) lesions nor definite pathological evidence of hippocampal sclerosis. They usually have resistance to antiepileptic drugs, difficulties in precise seizure location and poor surgical outcomes. Adenosine is a neuroprotective neuromodulator that acts as
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Neuromuscular junction denervation and terminal Schwann cell loss in the hTDP-43 overexpression mouse model of amyotrophic lateral sclerosis Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-19 Abrar Alhindi, Megan Shand, Hannah L. Smith, Ana S. Leite, Yu-Ting Huang, Dinja van der Hoorn, Zara Ridgway, Kiterie M. E. Faller, Ross A. Jones, Thomas H. Gillingwater, Helena Chaytow
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with complex aetiology. Despite evidence of neuromuscular junction (NMJ) denervation and ‘dying-back’ pathology in models of SOD1-dependent ALS, evidence in other genetic forms of ALS is limited by a lack of suitable animal models. TDP-43, a key mediator protein in ALS, is overexpressed in neurons in Thy1-hTDP-43WT mice. We therefore
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Insights into the pathological basis of dementia from population-based neuropathology studies Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-18 Stephen B. Wharton, Julie E. Simpson, Paul G. Ince, Connor D. Richardson, Richard Merrick, Fiona E. Matthews, Carol Brayne
The epidemiological neuropathology perspective of population and community-based studies allows unbiased assessment of the prevalence of various pathologies and their relationships to late-life dementia. In addition, this approach provides complementary insights to conventional case–control studies, which tend to be more representative of a younger clinical cohort. The Cognitive Function and Ageing
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Nanoscale reorganisation of synaptic proteins in Alzheimer's disease Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-17 Wang-Hui Zhu, Xiao-Xu Yang, Xu-Zhuo Gou, Shu-Mei Fu, Jia-Hui Chen, Feng Gao, Yong Shen, Dan-lei Bi, Ai-Hui Tang
Synaptic strength depends strongly on the subsynaptic organisation of presynaptic transmitter release and postsynaptic receptor densities, and their alterations are expected to underlie pathologies. Although synaptic dysfunctions are common pathogenic traits of Alzheimer's disease (AD), it remains unknown whether synaptic protein nano-organisation is altered in AD.
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Past antihypertensive medication use is associated with lower levels of small vessel disease and lower Aβ plaque stage in the brains of older individuals Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-10 Andrew J. Affleck, Perminder S. Sachdev, Glenda M. Halliday
This study assesses the association of antihypertensive medication use on the severities of neuropathological cerebrovascular disease (CVD excluding lobar infarction) in older individuals.
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Issue Information Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-07-04
No abstract is available for this article.
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Psychotic symptoms in frontotemporal dementia with TDP-43 tend to be associated with type B pathology Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-29 Veronica Hirsch-Reinshagen, Christa Hercher, Fidel Vila-Rodriguez, Manuela Neumann, Rosa Rademakers, William G. Honer, Ging-Yuek R. Hsiung, Ian R. Mackenzie
Psychotic symptoms are increasingly recognized as a distinguishing clinical feature in patients with dementia due to frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP). Within this group, carriers of the C9orf72 repeat expansion are particularly prone to develop delusions and hallucinations.
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Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-16 Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Corinna Preusse, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
Key points Danon disease is characterised by both vacuolar myopathy and impaired mitochondrial turnover, evident at the morphological, mRNA and protein levels. Dysfunctional mitophagy and structural abnormalities of mitochondria are hallmark features of Danon disease. Dysfunctional mitophagy is an early pathological feature of the disease that might even precede vacuole formation.
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A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-15 Jorge Arriagada-Diaz, Carolina Flores-Muñoz, Bárbara Gómez-Soto, Marjorie Labraña-Allende, Michelle Mattar-Araos, Lorena Prado-Vega, Fernando Hinostroza, Ivana Gajardo, María José Guerra-Fernández, Jorge A. Bevilacqua, Ana M. Cárdenas, Marc Bitoun, Alvaro O. Ardiles, Arlek M. Gonzalez-Jamett
Dynamin-2 is a large GTPase, a member of the dynamin superfamily that regulates membrane remodelling and cytoskeleton dynamics. Mutations in the dynamin-2 gene (DNM2) cause autosomal dominant centronuclear myopathy (CNM), a congenital neuromuscular disorder characterised by progressive weakness and atrophy of the skeletal muscles. Cognitive defects have been reported in some DNM2-linked CNM patients
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Treatment with the copper compound CuATSM has no significant effect on motor neuronal pathology in patients with ALS Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-15 Yue Yang, Dominic Rowe, Heather McCann, Claire E. Shepherd, Jillian J. Kril, Matthew C. Kiernan, Glenda M. Halliday, Rachel H. Tan
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microRNA-based predictor for diagnosis of frontotemporal dementia Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-14 Iddo Magen, Nancy-Sarah Yacovzada, Jason D. Warren, Carolin Heller, Imogen Swift, Yoana Bobeva, Andrea Malaspina, Jonathan D. Rohrer, Pietro Fratta, Eran Hornstein
This study aimed to explore the non-linear relationships between cell-free microRNAs (miRNAs) and their contribution to prediction of Frontotemporal dementia (FTD), an early onset dementia that is clinically heterogeneous, and too often suffers from delayed diagnosis.
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Is islet amyloid polypeptide indeed expressed in the human brain? Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-14 Sylwia Libard, Irina Alafuzoff
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Intelligence quotient-genotype association in dystrophinopathies: A systematic review and meta-analysis. Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-01 Carlos Pascual-Morena,Iván Cavero-Redondo,Irene Sequí-Domínguez,Eva Rodríguez-Gutiérrez,María Eugenia Visier-Alfonso,Vicente Martínez-Vizcaíno
AIMS Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is suggested that IQ is negatively correlated with the number of affected isoforms (i.e., Dp427, Dp140 and Dp71). Therefore, the objective of this meta-analysis was to estimate the IQ, and the IQ-genotype association according to the altered
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Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-06-09 David E. Reuss, Susanna M. Downing, Cristel V. Camacho, Yong-Dong Wang, Rosario M. Piro, Christel Herold-Mende, Zhao-Qi Wang, Thomas G. Hofmann, Felix Sahm, Andreas von Deimling, Peter J. McKinnon, Pierre-Olivier Frappart
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder caused by hypomorphic mutations of NBS1. NBS1 is a member of the MRE11-RAD50-NBS1 (MRN) complex that binds to DNA double-strand breaks and activates the DNA damage response (DDR). Nbs1 inactivation in neural progenitor cells leads to microcephaly and premature death. Interestingly, p53 homozygous deletion rescues the NBS1-deficient
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Erratum Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-05-18
In Pestronk et al. [1], Figures 5 and 6 were mislabelled. The correct label letters are below: FIGURE 5. Axonal (Wallerian) degeneration in adult human sural nerve. (Wallerian) degeneration in adult human sural nerve. Loss of neurofilament staining of larger axons is apparent within areas of myelin basic protein (MBP)-stained myelin. (A) Toluidine blue-stained plastic sections show myelin ovoids and
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Increased number and domain of interlaminar astrocytes in layer I of the temporal cortex in epilepsy Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-05-20 Nan Zhou, Zhen Fan, Yusheng Tong, Xing Xiao, Yongsheng Xie, Zengxin Qi, Liang Chen
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Issue Information Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-05-06
No abstract is available for this article.
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Corrigendum Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-05-06
The authors regret that in Bergh et al.,1 the funding information for Åsa Petersén was incomplete. The complete funding information is provided below: This work was supported by research grants to RYC and ÅP from the Swedish Research Council (grant numbers 2013/03537 and 2018/02559), ALF grant from Region Skåne, the Royal Physiographic Society of Lund (grant numbers 2016-37869, 2018-39651 and 2019-40523)
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Timing is everything: A connection between medulloblastoma prognosis and foetal cerebellar development Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-04-06 Daniel Williamson, Edward C. Schwalbe, Simon Bailey, Steven C. Clifford
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Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-04-05 Bryan A. Adriaanse, Sinead Brady, Minghui Wang, Daniel J. Beard, Jonathan I. Spencer, Jonathan Pansieri, Brad A. Sutherland, Margaret M. Esiri, Alastair M. Buchan, Zameel Cader, Bin Zhang, Gabriele C. DeLuca
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Cover Image, Volume 49, Issue 2 Neuropathol. Appl. Neurobiol. (IF 5.0) Pub Date : 2023-03-23 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