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  1. Neurofibromatosis Type 1 (NF1) is caused by loss of function variants in the NF1 gene. Most patients with NF1 develop skin lesions called cutaneous neurofibromas (cNFs). Currently the only approved therapeutic fo...

    Authors: Cameron Church, Christian X. Fay, Emil Kriukov, Hui Liu, Ashley Cannon, Lauren Ashley Baldwin, David K. Crossman, Bruce Korf, Margaret R. Wallace, Andrea M. Gross, Brigitte C. Widemann, Robert A. Kesterson, Petr Baranov and Deeann Wallis
    Citation: Acta Neuropathologica Communications 2024 12:102
  2. Within the past decade, incremental integration of molecular characteristics into the classification of central nervous system neoplasms increasingly facilitated precise diagnosis and advanced stratification, ...

    Authors: David Gorodezki, Jason Chiang, Angela N. Viaene, Philipp Sievers, Simone Schmid, Ursula Holzer, Frank Paulsen, Martin U. Schuhmann, Olaf Witt, Jens Schittenhelm and Martin Ebinger
    Citation: Acta Neuropathologica Communications 2024 12:101
  3. A link between chronic stress and Parkinson’s disease (PD) pathogenesis is emerging. Ample evidence demonstrates that the presynaptic neuronal protein alpha-synuclein (asyn) is closely tied to PD pathogenesis....

    Authors: Modestos Nakos Bimpos, Katerina Karali, Christine Antoniou, Dionysios Palermos, Maria Fouka, Anastasios Delis, Iason Tzieras, George Panagiotis Chrousos, Yassemi Koutmani, Leonidas Stefanis and Alexia Polissidis
    Citation: Acta Neuropathologica Communications 2024 12:100
  4. Filaments made of residues 120-254 of transmembrane protein 106B (TMEM106B) form in an age-dependent manner and can be extracted from the brains of neurologically normal individuals and those of subjects with ...

    Authors: Mehtap Bacioglu, Manuel Schweighauser, Derrick Gray, Sofia Lövestam, Taxiarchis Katsinelos, Annelies Quaegebeur, John van Swieten, Zane Jaunmuktane, Stephen W. Davies, Sjors H. W. Scheres, Michel Goedert, Bernardino Ghetti and Maria Grazia Spillantini
    Citation: Acta Neuropathologica Communications 2024 12:99
  5. Authors: Tomoyasu Matsubara, Kenji Ishii, Yoko Saito, Aya Midori Tokumaru, Akira Arakawa, Manato Hara, Masanori Kurihara, Renpei Sengoku, Kazutomi Kanemaru, Atsushi Iwata, Tomio Arai, Akinori Miyashita, Takeshi Ikeuchi, Masato Hasegawa, Shigeo Murayama and Yuko Saito
    Citation: Acta Neuropathologica Communications 2024 12:98
  6. Wasteosomes (or corpora amylacea) are polyglucosan bodies that appear in the human brain with aging and in some neurodegenerative diseases, and have been suggested to have a potential role in a nervous system ...

    Authors: Raquel Alsina, Marta Riba, Agnès Pérez-Millan, Sergi Borrego-Écija, Iban Aldecoa, Clara Romera, Mircea Balasa, Anna Antonell, Albert Lladó, Yaroslau Compta, Jaume del Valle, Raquel Sánchez-Valle, Carme Pelegrí, Laura Molina-Porcel and Jordi Vilaplana
    Citation: Acta Neuropathologica Communications 2024 12:97
  7. Authors: Felix Ehret, Eilís Perez, Daniel Teichmann, Sandra Meier, Carola Geiler, Cosmas Zeus, Helene Franke, Siyer Roohani, David Wasilewski, Julia Onken, Peter Vajkoczy, Leonille Schweizer, David Kaul and David Capper
    Citation: Acta Neuropathologica Communications 2024 12:96

    The original article was published in Acta Neuropathologica Communications 2024 12:74

  8. MYC dysregulation is pivotal in the onset and progression of IDH-mutant gliomas, mostly driven by copy-number alterations, regulatory element alterations, or epigenetic changes. Our pilot analysis uncovered in...

    Authors: Ege Ülgen, Umut Gerlevik, Sıla Gerlevik, Yavuz Oktay, Osman Uğur Sezerman, Şevin Turcan and Koray Ozduman
    Citation: Acta Neuropathologica Communications 2024 12:95
  9. Down syndrome (DS) is a common genetic condition caused by trisomy of chromosome 21. Among their complex clinical features, including musculoskeletal, neurological, and cardiovascular disabilities, individuals...

    Authors: Ujjayini Ghosh, Eric Tse, Hyunjun Yang, Marie Shi, Christoffer D. Caro, Feng Wang, Gregory E. Merz, Stanley B. Prusiner, Daniel R. Southworth and Carlo Condello
    Citation: Acta Neuropathologica Communications 2024 12:94
  10. Choroid plexus tumors (CPTs) are intraventricular tumors derived from the choroid plexus epithelium and occur frequently in children. The aim of this study was to investigate the genomic and epigenomic charact...

    Authors: Yeonsong Choi, Seung Ah Choi, Eun Jung Koh, Ilsun Yun, Suhyun Park, Sungwon Jeon, Yeonkyung Kim, Sangbeen Park, Donggeon Woo, Ji Hoon Phi, Sung-Hye Park, Dong-Seok Kim, Se Hoon Kim, Jung Won Choi, Ji Won Lee, Tae-Young Jung…
    Citation: Acta Neuropathologica Communications 2024 12:93
  11. Authors: Jennifer L. Brown, Damyan W. Hart, Gabriel E. Boyle, Taylor G. Brown, Michael LaCroix, Andrés M. Baraibar, Ross Pelzel, Minwoo Kim, Mathew A. Sherman, Samuel Boes, Michelle Sung, Tracy Cole, Michael K. Lee, Alfonso Araque and Sylvain E. Lesné
    Citation: Acta Neuropathologica Communications 2024 12:92

    The original article was published in Acta Neuropathologica Communications 2022 10:180

  12. Synucleinopathies are a group of neurodegenerative disorders characterized by the presence of misfolded α-Synuclein (αSyn) in the brain. These conditions manifest with diverse clinical and pathophysiological c...

    Authors: Grace M. Lloyd, Stephan Quintin, Zachary A. Sorrentino, Kimberly-Marie M. Gorion, Brach M. Bell, Brooke Long, Giavanna Paterno and Benoit I. Giasson
    Citation: Acta Neuropathologica Communications 2024 12:91
  13. Mitochondrial dysfunctions are key features of Alzheimer’s disease (AD). The occurrence of these disturbances in the peripheral cells of AD patients and their potential correlation with disease progression are...

    Authors: Fanny Eysert, Paula-Fernanda Kinoshita, Julien Lagarde, Sandra Lacas-Gervais, Laura Xicota, Guillaume Dorothée, Michel Bottlaender, Frédéric Checler, Marie-Claude Potier, Marie Sarazin and Mounia Chami
    Citation: Acta Neuropathologica Communications 2024 12:90
  14. The microtubule-associated protein Tau is a key player in various neurodegenerative conditions, including Alzheimer's disease (AD) and Tauopathies, where its hyperphosphorylation disrupts neuronal microtubular...

    Authors: Kanishka Pushpitha Maha Thananthirige, Nitin Chitranshi, Devaraj Basavarajappa, Rashi Rajput, Mojdeh Abbasi, Viswanthram Palanivel, Veer Bala Gupta, Joao A. Paulo, Maya Koronyo-Hamaoui, Mehdi Mirzaei, Stuart L. Graham and Vivek Gupta
    Citation: Acta Neuropathologica Communications 2024 12:89
  15. Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the coding sequence of huntingtin protein. Initially, it predominantly affects medium-sized spiny neuron...

    Authors: Eva Martin-Solana, Laura Casado-Zueras, Teobaldo E. Torres, Gerardo F. Goya, Maria-Rosario Fernandez-Fernandez and Jose-Jesus Fernandez
    Citation: Acta Neuropathologica Communications 2024 12:88
  16. Tau protein hyperphosphorylation and aggregation are key pathological events in neurodegenerative tauopathies such as Alzheimer’s disease. Interestingly, seasonal hibernators show extensive tau hyperphosphoryl...

    Authors: C. F. de Veij Mestdagh, M. E. Witte, W. Scheper, A. B. Smit, R. H. Henning and R. E. van Kesteren
    Citation: Acta Neuropathologica Communications 2024 12:86
  17. Here, we test whether early visual and OCT rod energy-linked biomarkers indicating pathophysiology in nicotinamide nucleotide transhydrogenase (Nnt)-null 5xFAD mice also occur in Nnt-intact 5xFAD mice and whether...

    Authors: Bruce A. Berkowitz, Anuhya Paruchuri, Josh Stanek, Mura Abdul-Nabi, Robert H. Podolsky, Abner Heredia Bustos, Karen Lins Childers, Geoffrey G. Murphy, Katherine Stangis and Robin Roberts
    Citation: Acta Neuropathologica Communications 2024 12:85
  18. Alpha-synuclein (αsyn) is an intrinsically disordered protein that aggregates in the brain in several neurodegenerative diseases collectively called synucleinopathies. Phosphorylation of αsyn at serine 129 (PS...

    Authors: S. G. Choi, T. Tittle, D. Garcia-Prada, J. H. Kordower, R. Melki and B. A. Killinger
    Citation: Acta Neuropathologica Communications 2024 12:84
  19. Human brain experimental models recapitulating age- and disease-related characteristics are lacking. There is urgent need for human-specific tools that model the complex molecular and cellular interplay betwee...

    Authors: Bonnie C. Plug, Ilma M. Revers, Marjolein Breur, Gema Muñoz González, Jaap A. Timmerman, Niels R.C. Meijns, Daniek Hamberg, Jikke Wagendorp, Erik Nutma, Nicole I. Wolf, Antonio Luchicchi, Huibert D. Mansvelder, Niek P. van Til, Marjo S. van der Knaap and Marianna Bugiani
    Citation: Acta Neuropathologica Communications 2024 12:83
  20. Neurons pose a particular challenge to degradative processes like autophagy due to their long and thin processes. Autophagic vesicles (AVs) are formed at the tip of the axon and transported back to the soma. T...

    Authors: Xiaoyue Luo, Jiong Zhang, Johan Tolö, Sebastian Kügler, Uwe Michel, Mathias Bähr and Jan Christoph Koch
    Citation: Acta Neuropathologica Communications 2024 12:82
  21. Cerebrovascular and α-synuclein pathologies are frequently observed alongside Alzheimer disease (AD). The heterogeneity of AD necessitates comprehensive approaches to postmortem studies, including the represen...

    Authors: Hsin-Pei Wang, Rebeca Scalco, Naomi Saito, Laurel Beckett, My-Le Nguyen, Emily Z. Huie, Lawrence S. Honig, Charles DeCarli, Robert A. Rissman, Andrew F. Teich, Dan M. Mungas, Lee-Way Jin and Brittany N. Dugger
    Citation: Acta Neuropathologica Communications 2024 12:81
  22. Carey Fineman Ziter Syndrome (CFZS) is a rare autosomal recessive disease caused by mutations in the MYMK locus which encodes the protein, myomaker. Myomaker is essential for fusion and concurrent myonuclei donat...

    Authors: Hannah F. Dugdale, Yotam Levy, Heinz Jungbluth, Anders Oldfors and Julien Ochala
    Citation: Acta Neuropathologica Communications 2024 12:80
  23. Neurodegenerative diseases have common underlying pathological mechanisms including progressive neuronal dysfunction, axonal and dendritic retraction, and mitochondrial dysfunction resulting in neuronal death....

    Authors: Anne Rombaut, Danica Jovancevic, Raymond Ching-Bong Wong, Alan Nicol, Rune Brautaset, David I. Finkelstein, Christine T. O. Nguyen, James R. Tribble and Pete A. Williams
    Citation: Acta Neuropathologica Communications 2024 12:79
  24. Neurologic Rosai–Dorfman disease (RDD) is a rare type of non-Langerhans cell histiocytosis that affects the central nervous system. Most neurologic RDDs grow like meningiomas, have clear boundaries, and can be...

    Authors: Guo-Hao Huang, Guo-Long Liu, De-Zhi Huang, Xin-Wei Diao and Sheng-Qing Lv
    Citation: Acta Neuropathologica Communications 2024 12:78
  25. Glioblastoma (GBM) is the most common malignant brain tumor in adults, which remains incurable and often recurs rapidly after initial therapy. While large efforts have been dedicated to uncover genomic/transcr...

    Authors: Wei-Min Ho, Chia-Ying Chen, Tai-Wei Chiang and Trees-Juen Chuang
    Citation: Acta Neuropathologica Communications 2024 12:77
  26. Activated microglia play an important role in driving photoreceptor degeneration-associated neuroinflammation in the retina. Controlling pro-inflammatory activation of microglia holds promise for mitigating th...

    Authors: Daijin Li, Jie Chang, Yujue Wang, Xiaoye Du, Jing Xu, Jingang Cui, Teng Zhang and Yu Chen
    Citation: Acta Neuropathologica Communications 2024 12:76
  27. In Parkinson's disease and other synucleinopathies, fibrillar forms of α-synuclein (aSyn) are hypothesized to structurally convert and pathologize endogenous aSyn, which then propagates through the neural conn...

    Authors: Tatsuhiko Sano, Tetsuya Nagata, Satoe Ebihara, Kie Yoshida-Tanaka, Ayako Nakamura, Asuka Sasaki, Aki Shimozawa, Hideki Mochizuki, Toshiki Uchihara, Masato Hasegawa and Takanori Yokota
    Citation: Acta Neuropathologica Communications 2024 12:75
  28. The combination of DNA methylation analysis with histopathological and genetic features allows for a more accurate risk stratification and classification of meningiomas. Nevertheless, the implications of this ...

    Authors: Felix Ehret, Eilís Perez, Daniel Teichmann, Sandra Meier, Carola Geiler, Cosmas Zeus, Helene Franke, Siyer Roohani, David Wasilewski, Julia Onken, Peter Vajkoczy, Leonille Schweizer, David Kaul and David Capper
    Citation: Acta Neuropathologica Communications 2024 12:74

    The Correction to this article has been published in Acta Neuropathologica Communications 2024 12:96

  29. Neuroinflammation and Alzheimer’s disease (AD) co-pathology may contribute to disease progression and severity in dementia with Lewy bodies (DLB). This study aims to clarify whether a different pattern of neur...

    Authors: Janna van Wetering, Hanne Geut, John J. Bol, Yvon Galis, Evelien Timmermans, Jos W.R. Twisk, Dagmar H. Hepp, Martino L. Morella, Lasse Pihlstrom, Afina W. Lemstra, Annemieke J.M. Rozemuller, Laura E. Jonkman and Wilma D.J. van de Berg
    Citation: Acta Neuropathologica Communications 2024 12:73
  30. The RE1-silencing transcription factor (REST) acts either as a repressor or activator of transcription depending on the genomic and cellular context. REST is a key player in brain cell differentiation by induc...

    Authors: Malgorzata Perycz, Michal J. Dabrowski, Marta Jardanowska-Kotuniak, Adria-Jaume Roura, Bartlomiej Gielniewski, Karolina Stepniak, Michał Dramiński, Iwona A. Ciechomska, Bozena Kaminska and Bartosz Wojtas
    Citation: Acta Neuropathologica Communications 2024 12:72
  31. Diffuse Intrinsic Pontine Glioma (DIPG) is a highly aggressive and fatal pediatric brain cancer. One pre-requisite for tumor cells to infiltrate is adhesion to extracellular matrix (ECM) components. However, i...

    Authors: Sauradeep Sinha, Michelle S. Huang, Georgios Mikos, Yudhishtar Bedi, Luis Soto, Sarah Lensch, Manish Ayushman, Lacramioara Bintu, Nidhi Bhutani, Sarah C. Heilshorn and Fan Yang
    Citation: Acta Neuropathologica Communications 2024 12:71
  32. The majority of patients with Parkinson disease (PD) experience a loss in their sense of smell and accumulate insoluble α-synuclein aggregates in their olfactory bulbs (OB). Subjects affected by a SARS-CoV-2-l...

    Authors: Nathalie A. Lengacher, Julianna J. Tomlinson, Ann-Kristin Jochum, Jonas Franz, Omar Hasan Ali, Lukas Flatz, Wolfram Jochum, Josef Penninger, Christine Stadelmann, John M. Woulfe and Michael G. Schlossmacher
    Citation: Acta Neuropathologica Communications 2024 12:70
  33. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of A...

    Authors: Riccardo Sirtori, Michelle J. Gregoire, Emily M. Potts, Alicia Collins, Liviana Donatelli and Claudia Fallini
    Citation: Acta Neuropathologica Communications 2024 12:69
  34. Some individuals show a discrepancy between cognition and the amount of neuropathological changes characteristic for Alzheimer’s disease (AD). This phenomenon has been referred to as ‘resilience’. The molecula...

    Authors: Luuk E. de Vries, Aldo Jongejan, Jennifer Monteiro Fortes, Rawien Balesar, Annemieke J. M. Rozemuller, Perry D. Moerland, Inge Huitinga, Dick F. Swaab and Joost Verhaagen
    Citation: Acta Neuropathologica Communications 2024 12:68
  35. Melanoma is the most serious type of skin cancer that frequently spreads to other organs of the human body. Especially melanoma metastases to the brain (intracranial metastases) are hard to treat and a major c...

    Authors: Theresa Kraft, Konrad Grützmann, Matthias Meinhardt, Friedegund Meier, Dana Westphal and Michael Seifert
    Citation: Acta Neuropathologica Communications 2024 12:67
  36. The elderly frequently present impaired blood–brain barrier which is closely associated with various neurodegenerative diseases. However, how the albumin, the most abundant protein in the plasma, leaking throu...

    Authors: Sheng-jie Hou, Ya-ru Huang, Jie Zhu, Ying-bo Jia, Xiao-yun Niu, Jin-ju Yang, Xiao-lin Yu, Xiao-yu Du, Shi-yu Liang, Fang Cui, Ling-jie Li, Chen Tian and Rui-tian Liu
    Citation: Acta Neuropathologica Communications 2024 12:66
  37. The progressive and irreversible degeneration of retinal ganglion cells (RGCs) and their axons is the major characteristic of glaucoma, a leading cause of irreversible blindness worldwide. Nicotinamide adenine...

    Authors: Myungjin Kim, Jun Yong Kim, Won-Kyu Rhim, Gloria Cimaglia, Andrew Want, James E. Morgan, Pete A. Williams, Chun Gwon Park, Dong Keun Han and Seungsoo Rho
    Citation: Acta Neuropathologica Communications 2024 12:65
  38. Glioblastoma (GBM) remains an untreatable malignant tumor with poor patient outcomes, characterized by palisading necrosis and microvascular proliferation. While single-cell technology made it possible to char...

    Authors: Mengyi Liu, Zhicheng Ji, Vaibhav Jain, Vanessa L. Smith, Emily Hocke, Anoop P. Patel, Roger E. McLendon, David M. Ashley, Simon G. Gregory and Giselle Y. López
    Citation: Acta Neuropathologica Communications 2024 12:64
  39. Integration of molecular data with histologic, radiologic, and clinical features is imperative for accurate diagnosis of pediatric central nervous system (CNS) tumors. Whole transcriptome RNA sequencing (RNAse...

    Authors: Nicholas Chapman, Joshua Greenwald, Jolee Suddock, Dong Xu, Alexander Markowitz, Maeve Humphrey, Jennifer A Cotter, Mark D Krieger, Debra Hawes and Jianling Ji
    Citation: Acta Neuropathologica Communications 2024 12:63
  40. Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal pr...

    Authors: Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, lllana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe and R. Frank Kooy
    Citation: Acta Neuropathologica Communications 2024 12:62
  41. We aimed to identify the druggable cell-intrinsic vulnerabilities and target-based drug therapies for PitNETs using the high-throughput drug screening (HTS) and genomic sequencing methods. We examined 9 patien...

    Authors: Yijun Cheng, Yuting Dai, Hao Tang, Xingyu Lu, Jing Xie, Wanqun Xie, Qianqian Zhang, Yanting Liu, Shaojian Lin, Hong Yao, Hanbing Shang, Kun Yang, Hongyi Liu, Xuefeng Wu, Jianming Zhang, Xun Zhang…
    Citation: Acta Neuropathologica Communications 2024 12:61
  42. Methylation class “CNS tumor with BCOR/BCOR(L1)-fusion” was recently defined based on methylation profiling and tSNE analysis of a series of 21 neuroepithelial tumors with predominant presence of a BCOR fusion...

    Authors: Azadeh Ebrahimi, Andreas Waha, Jens Schittenhelm, Georg Gohla, Martin U Schuhmann and Torsten Pietsch
    Citation: Acta Neuropathologica Communications 2024 12:60
  43. Glaucoma leads to vision loss due to retinal ganglion cell death. Astrocyte reactivity contributes to neurodegeneration. Our recent study found that lipoxin B4 (LXB4), produced by retinal astrocytes, has direct n...

    Authors: Shruthi Karnam, Shubham Maurya, Elainna Ng, Amodini Choudhary, Arzin Thobani, John G Flanagan and Karsten Gronert
    Citation: Acta Neuropathologica Communications 2024 12:58
  44. Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutations or deletions in the TP53 tumor suppressor gene. Central nervous system tumors, such as c...

    Authors: Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu and Ryuta Saito
    Citation: Acta Neuropathologica Communications 2024 12:57
  45. In malignant glioma, cytotoxic drugs are often inhibited from accessing the tumor site due to the blood-tumor barrier (BTB). Ibrutinib, FDA-approved lymphoma agent, inhibits Bruton tyrosine kinase (BTK) and ha...

    Authors: Sanghee Lim, Minhye Kwak, Jeonghan Kang, Melissa Cesaire, Kayen Tang, Robert W. Robey, William J. E. Frye, Baktiar Karim, Donna Butcher, Martin J. Lizak, Mahalia Dalmage, Brandon Foster, Nicholas Nuechterlein, Charles Eberhart, Patrick J. Cimino, Michael M. Gottesman…
    Citation: Acta Neuropathologica Communications 2024 12:56
  46. A novel methylation class, “neuroepithelial tumor, with PLAGL1 fusion” (NET-PLAGL1), has recently been described, based on epigenetic features, as a supratentorial pediatric brain tumor with recurrent histopathol...

    Authors: Arnault Tauziède-Espariat, Yvan Nicaise, Philipp Sievers, Felix Sahm, Andreas von Deimling, Delphine Guillemot, Gaëlle Pierron, Mathilde Duchesne, Myriam Edjlali, Volodia Dangouloff-Ros, Nathalie Boddaert, Alexandre Roux, Edouard Dezamis, Lauren Hasty, Benoît Lhermitte, Edouard Hirsch…
    Citation: Acta Neuropathologica Communications 2024 12:55
  47. The disease-specific accumulation of pathological proteins has long been the major focus of research in neurodegenerative diseases (ND), including Alzheimer’s disease (AD) and related dementias (RD), but the r...

    Authors: Tim Bathe, Gabriela P. Hery, Jonathan A. B. Villareal, Jennifer L. Phillips, Eric M. Cohen, Rohan V. Sharma, Wangchen Tsering and Stefan Prokop
    Citation: Acta Neuropathologica Communications 2024 12:54

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