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Acta Neuropathologica Communications

Issue 1/2020

Content (223 Articles)

Open Access Glioma Correction

Correction to: Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma

Verena Haage, Marcus Semtner, Ramon Oliveira Vidal, Daniel Perez Hernandez, Winnie W. Pong, Zhihong Chen, Dolores Hambardzumyan, Vincent Magrini, Amy Ly, Jason Walker, Elaine Mardis, Philipp Mertins, Sascha Sauer, Helmut Kettenmann, David H. Gutmann

Open Access Research

Innate signaling within the central nervous system recruits protective neutrophils

Reza Khorooshi, Joanna Marczynska, Ruthe Storgaard Dieu, Vian Wais, Christian Rønn Hansen, Stephanie Kavan, Mads Thomassen, Mark Burton, Torben Kruse, Gill A. Webster, Trevor Owens

Open Access Amyotrophic Lateral Sclerosis Research

A robust TDP-43 knock-in mouse model of ALS

Shih-Ling Huang, Lien-Szu Wu, Min Lee, Chin-Wen Chang, Wei-Cheng Cheng, Yu-Sheng Fang, Yun-Ru Chen, Pei-Lin Cheng, Che-Kun James Shen

Open Access Acetylcysteine Research

N-acetylcysteine inhibits bacterial lipopeptide-mediated neutrophil transmigration through the choroid plexus in the developing brain

Amin Mottahedin, Sandrine Blondel, Joakim Ek, Anna-Lena Leverin, Pernilla Svedin, Henrik Hagberg, Carina Mallard, Jean-Francois Ghersi-Egea, Nathalie Strazielle

Open Access Frontotemporal Dementia Research

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda Halliday, David J. Stone, Dennis W. Dickson, John Hardy, Andrew Singleton, Rita Guerreiro, Jose Bras

Open Access Epilepsy Research

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice

Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hsu

Open Access Glioma Research

H3F3A mutant allele specific imbalance in an aggressive subtype of diffuse midline glioma, H3 K27M-mutant

Sachi Maeda, Fumiharu Ohka, Yusuke Okuno, Kosuke Aoki, Kazuya Motomura, Kazuhito Takeuchi, Hironao Kusakari, Nobuyuki Yanagisawa, Shinya Sato, Junya Yamaguchi, Kuniaki Tanahashi, Masaki Hirano, Akira Kato, Hiroyuki Shimizu, Yotaro Kitano, Shintaro Yamazaki, Shinji Yamashita, Hideo Takeshima, Keiko Shinjo, Yutaka Kondo, Toshihiko Wakabayashi, Atsushi Natsume

Open Access Multiple Sclerosis Research

Inflammation of the choroid plexus in progressive multiple sclerosis: accumulation of granulocytes and T cells

Sabela Rodríguez-Lorenzo, Julia Konings, Susanne van der Pol, Alwin Kamermans, Sandra Amor, Jack van Horssen, Maarten E. Witte, Gijs Kooij, Helga E. de Vries

Locus coeruleus pathology in progressive supranuclear palsy, and its relation to disease severity

Sanne Simone Kaalund, Luca Passamonti, Kieren S. J. Allinson, Alexander G. Murley, Trevor W. Robbins, Maria Grazia Spillantini, James B. Rowe

Open Access Alzheimer's Disease Research

Pre-clinical characterisation of E2814, a high-affinity antibody targeting the microtubule-binding repeat domain of tau for passive immunotherapy in Alzheimer’s disease

Malcolm Roberts, Ioanna Sevastou, Yoichi Imaizumi, Kavita Mistry, Sonia Talma, Madhurima Dey, Jane Gartlon, Hiroshi Ochiai, Zhi Zhou, Shigeru Akasofu, Naoki Tokuhara, Makoto Ogo, Muneo Aoyama, Hirofumi Aoyagi, Kate Strand, Ezat Sajedi, Kishan Lal Agarwala, Jared Spidel, Earl Albone, Kanta Horie, James M. Staddon, Rohan de Silva

Open Access Glioma Research

The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas

Matthew McCord, Alicia Steffens, Rodrigo Javier, Kwok-Ling Kam, Kathleen McCortney, Craig Horbinski

Open Access Subdural Hematoma Research

Subdural haematomas drain into the extracranial lymphatic system through the meningeal lymphatic vessels

Xuanhui Liu, Chuang Gao, Jiangyuan Yuan, Tangtang Xiang, Zhitao Gong, Hongliang Luo, Weiwei Jiang, Yiming Song, Jinhao Huang, Wei Quan, Dong Wang, Ye Tian, Xintong Ge, Ping Lei, Jianning Zhang, Rongcai Jiang

Open Access Parkinson's Disease Research

Early-onset impairment of the ubiquitin-proteasome system in dopaminergic neurons caused by α-synuclein

Chris McKinnon, Mitchell L. De Snoo, Elise Gondard, Clemens Neudorfer, Hien Chau, Sophie G. Ngana, Darren M. O’Hara, Jonathan M. Brotchie, James B. Koprich, Andres M. Lozano, Lorraine V. Kalia, Suneil K. Kalia

Open Access Myopathy Research

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak

Open Access Huntington's Disease Research

Single-nucleus RNA-seq identifies Huntington disease astrocyte states

Osama Al-Dalahmah, Alexander A. Sosunov, A. Shaik, Kenneth Ofori, Yang Liu, Jean Paul Vonsattel, Istvan Adorjan, Vilas Menon, James E. Goldman

Open Access Encephalopathy Methodology article

A single ultrasensitive assay for detection and discrimination of tau aggregates of Alzheimer and Pick diseases

Michael A. Metrick II, Natália do Carmo Ferreira, Eri Saijo, Allison Kraus, Kathy Newell, Gianluigi Zanusso, Michele Vendruscolo, Bernardino Ghetti, Byron Caughey

Open Access Alzheimer's Disease Letter to the Editor

Chronic traumatic encephalopathy in a former Australian rules football player diagnosed with Alzheimer’s disease

Alan J. Pearce, Joanne Sy, Maggie Lee, Antony Harding, Rowena Mobbs, Jennifer Batchelor, Catherine M. Suter, Michael E. Buckland

Open Access Multiple Sclerosis Correction

Correction to: Inflammation of the choroid plexus in progressive multiple sclerosis: accumulation of granulocytes and T cells

Sabela Rodríguez-Lorenzo, Julia Konings, Susanne van der Pol, Alwin Kamermans, Sandra Amor, Jack van Horssen, Maarten E. Witte, Gijs Kooij, Helga E. de Vries

Open Access Pathology Research

Hippocampal tau oligomerization early in tau pathology coincides with a transient alteration of mitochondrial homeostasis and DNA repair in a mouse model of tauopathy

Jin Zheng, Mansour Akbari, Claire Schirmer, Marie-Line Reynaert, Anne Loyens, Bruno Lefebvre, Luc Buée, Deborah L. Croteau, Marie-Christine Galas, Vilhelm A. Bohr

Open Access Glioblastoma Case report

Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape

Malte Mohme, Cecile L. Maire, Simon Schliffke, Simon A. Joosse, Malik Alawi, Jakob Matschke, Ulrich Schüller, Judith Dierlamm, Tobias Martens, Klaus Pantel, Sabine Riethdorf, Katrin Lamszus, Manfred Westphal

Open Access Epigenetics Research

Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients

Rasmus Rydbirk, Jonas Folke, Florence Busato, Elodie Roché, Alisha Shahzad Chauhan, Annemette Løkkegaard, Anne-Mette Hejl, Matthias Bode, Morten Blaabjerg, Mette Møller, Erik Hvid Danielsen, Tomasz Brudek, Bente Pakkenberg, Jorg Tost, Susana Aznar

Open Access Glioma Review

Pediatric low-grade glioma in the era of molecular diagnostics

Scott Ryall, Uri Tabori, Cynthia Hawkins

Open Access Alzheimer's Disease Case report

Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier – phenotypic variability in autosomal dominant Alzheimer’s disease

Grace M. Lloyd, Jorge A. Trejo-Lopez, Yuxing Xia, Karen N. McFarland, Sarah J. Lincoln, Nilüfer Ertekin-Taner, Benoit I. Giasson, Anthony T. Yachnis, Stefan Prokop

Open Access Research

CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Chun-jie Luan, Wenting Guo, Lei Chen, Xi-wei Wei, Yimin He, Yan Chen, Su-ying Dang, Robert Prior, Xihua Li, Ying Kuang, Zhu-gang Wang, Ludo Van Den Bosch, Ming-min Gu

Open Access Magnetic Resonance Imaging Research

Histological correlates of postmortem ultra-high-resolution single-section MRI in cortical cerebral microinfarcts

Deniz Yilmazer-Hanke, Theresa Mayer, Hans-Peter Müller, Hermann Neugebauer, Alireza Abaei, Angelika Scheuerle, Joachim Weis, Karin M. E. Forsberg, Katharina Althaus, Julia Meier, Albert C. Ludolph, Kelly Del Tredici, Heiko Braak, Jan Kassubek, Volker Rasche

Open Access Spinal Muscular Atrophy Research

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

Alexander M. Rossor, James N. Sleigh, Michael Groves, Francesco Muntoni, Mary M. Reilly, Casper C. Hoogenraad, Giampietro Schiavo

Open Access Multiple Sclerosis Research

Altered secretory and neuroprotective function of the choroid plexus in progressive multiple sclerosis

Sabela Rodríguez-Lorenzo, David Miguel Ferreira Francisco, Ricardo Vos, Bert van het Hof, Merel Rijnsburger, Horst Schroten, Hiroshi Ishikawa, Wissam Beaino, Rémy Bruggmann, Gijs Kooij, Helga E. de Vries

Open Access Research

Astrocytes rescue neuronal health after cisplatin treatment through mitochondrial transfer

Krystal English, Andrew Shepherd, Ndidi-Ese Uzor, Ronnie Trinh, Annemieke Kavelaars, Cobi J. Heijnen

Open Access Ependymoma Letter to the Editor

Diffuse intrinsic pontine glioma-like tumor with EZHIP expression and molecular features of PFA ependymoma

Drew Pratt, Martha Quezado, Zied Abdullaev, Debra Hawes, Fusheng Yang, Hugh J. L. Garton, Alexander R. Judkins, Rajen Mody, Arul Chinnaiyan, Kenneth Aldape, Carl Koschmann, Sriram Venneti

Open Access Mood Disorders Research

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

Stefanie Berger, Miranda Stattmann, Ana Cicvaric, Francisco J. Monje, Pierluca Coiro, Matej Hotka, Gerda Ricken, Johannes Hainfellner, Susanne Greber-Platzer, Makiko Yasuda, Robert J. Desnick, Daniela D. Pollak

Open Access Parkinson's Disease Research

Neuropathological correlates of parkinsonian disorders in a large Dutch autopsy series

H. Geut, D. H. Hepp, E. Foncke, H. W. Berendse, J. M. Rozemuller, I. Huitinga, W. D. J. van de Berg

Open Access Glioma Research

The molecular characteristics of spinal cord gliomas with or without H3 K27M mutation

Rui-Chao Chai, Yao-Wu Zhang, Yu-Qing Liu, Yu-Zhou Chang, Bo Pang, Tao Jiang, Wen-Qing Jia, Yong-Zhi Wang

Open Access Meningioma Research

KLF4K409Q–mutated meningiomas show enhanced hypoxia signaling and respond to mTORC1 inhibitor treatment

Niklas von Spreckelsen, Natalie Waldt, Rebecca Poetschke, Christoph Kesseler, Hildegard Dohmen, Hui-Ke Jiao, Attila Nemeth, Stefan Schob, Cordula Scherlach, Ibrahim Erol Sandalcioglu, Martina Deckert, Frank Angenstein, Boris Krischek, Pantelis Stavrinou, Marco Timmer, Marc Remke, Elmar Kirches, Roland Goldbrunner, E. Antonio Chiocca, Stefan Huettelmaier, Till Acker, Christian Mawrin

Open Access Glioblastoma Research

Annexin A2–STAT3–Oncostatin M receptor axis drives phenotypic and mesenchymal changes in glioblastoma

Yuji Matsumoto, Tomotsugu Ichikawa, Kazuhiko Kurozumi, Yoshihiro Otani, Atsushi Fujimura, Kentaro Fujii, Yusuke Tomita, Yasuhiko Hattori, Atsuhito Uneda, Nobushige Tsuboi, Keisuke Kaneda, Keigo Makino, Isao Date

Open Access Amyloidosis Research

Diversity in Aβ deposit morphology and secondary proteome insolubility across models of Alzheimer-type amyloidosis

Guilian Xu, Susan E. Fromholt, Paramita Chakrabarty, Fanchao Zhu, Xuefei Liu, Michael C. Pace, Jin Koh, Todd E. Golde, Yona Levites, Jada Lewis, David R. Borchelt

Open Access Anxiety Research

Tacr3 in the lateral habenula differentially regulates orofacial allodynia and anxiety-like behaviors in a mouse model of trigeminal neuralgia

Wen-Qiang Cui, Wen-Wen Zhang, Teng Chen, Qian Li, Fei Xu, Qi-Liang Mao-Ying, Wen-Li Mi, Yan-Qing Wang, Yu-Xia Chu

Open Access Parkinson's Disease Review

Biological links between traumatic brain injury and Parkinson’s disease

Vedad Delic, Kevin D. Beck, Kevin C. H. Pang, Bruce A. Citron

Open Access Research

Abnormal mitosis in reactive astrocytes

Alexander Sosunov, Xiaoping Wu, Robert McGovern, Charles Mikell, Guy M. McKhann II, James E. Goldman

Open Access Leukodystrophy Case report

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière

Induction of aquaporin 4-reactive antibodies in Lewis rats immunized with aquaporin 4 mimotopes

Irina Tsymala, Magdalini Nigritinou, Bleranda Zeka, Rouven Schulz, Felix Niederschick, Mia Matković, Isabel J. Bauer, Michael Szalay, Kathrin Schanda, Magdalena Lerch, Tatsuro Misu, Kazuo Fujihara, Jeffrey L. Bennett, Charlotte Dahle, Florence Pache, Paulus Rommer, Fritz Leutmezer, Zsolt Illes, Maria Isabel Leite, Jacqueline Palace, Petra Scholze, Markus Reindl, Hans Lassmann, Monika Bradl

Open Access Creutzfeldt-Jakob Disease Research

Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease

Irene H. Flønes, Gerda Ricken, Sigrid Klotz, Alexandra Lang, Thomas Ströbel, Christian Dölle, Gabor G. Kovacs, Charalampos Tzoulis

Open Access Neurotomy Research

Characterising cellular and molecular features of human peripheral nerve degeneration

Matthew B. Wilcox, Simão G Laranjeira, Tuula M. Eriksson, Kristjan R. Jessen, Rhona Mirsky, Tom J. Quick, James B. Phillips

Open Access Glioblastoma Methodology article

Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma

Maxime Fontanilles, Florent Marguet, Philippe Ruminy, Carole Basset, Adrien Noel, Ludivine Beaussire, Mathieu Viennot, Pierre-Julien Viailly, Kevin Cassinari, Pascal Chambon, Doriane Richard, Cristina Alexandru, Isabelle Tennevet, Olivier Langlois, Frédéric Di Fiore, Annie Laquerrière, Florian Clatot, Nasrin Sarafan-Vasseur

Open Access Duchenne Muscular Dystrophy Methodology article

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

Dominic Scaglioni, Matthew Ellis, Francesco Catapano, Silvia Torelli, Darren Chambers, Lucy Feng, Caroline Sewry, Jennifer Morgan, Francesco Muntoni, Rahul Phadke

Open Access Parkinson's Disease Research

Common gene expression signatures in Parkinson’s disease are driven by changes in cell composition

Gonzalo S. Nido, Fiona Dick, Lilah Toker, Kjell Petersen, Guido Alves, Ole-Bjørn Tysnes, Inge Jonassen, Kristoffer Haugarvoll, Charalampos Tzoulis

Open Access Parkinson's Disease Research

Unilateral intranigral administration of β-sitosterol β-D-glucoside triggers pathological α-synuclein spreading and bilateral nigrostriatal dopaminergic neurodegeneration in the rat

Luis O. Soto-Rojas, Irma A. Martínez-Dávila, Claudia Luna-Herrera, María E. Gutierrez-Castillo, Francisco E. Lopez-Salas, Bismark Gatica-Garcia, Guadalupe Soto-Rodriguez, María Elena Bringas Tobon, Gonzalo Flores, America Padilla-Viveros, Cecilia Bañuelos, Víctor Manuel Blanco-Alvarez, José Dávila-Ayala, David Reyes-Corona, Linda Garcés-Ramírez, Oriana Hidalgo-Alegria, Fidel De La Cruz-lópez, Daniel Martinez-Fong

Open Access Astrocytoma Research

Clinical, imaging, and molecular analysis of pediatric pontine tumors lacking characteristic imaging features of DIPG

Jason Chiang, Alexander K. Diaz, Lydia Makepeace, Xiaoyu Li, Yuanyuan Han, Yimei Li, Paul Klimo Jr, Frederick A. Boop, Suzanne J. Baker, Amar Gajjar, Thomas E. Merchant, David W. Ellison, Alberto Broniscer, Zoltan Patay, Christopher L. Tinkle

Open Access Alzheimer's Disease Research

Validation of machine learning models to detect amyloid pathologies across institutions

Juan C. Vizcarra, Marla Gearing, Michael J. Keiser, Jonathan D. Glass, Brittany N. Dugger, David A. Gutman

Open Access Alzheimer's Disease Research

Association of Aβ with ceramide-enriched astrosomes mediates Aβ neurotoxicity

Ahmed Elsherbini, Alexander S. Kirov, Michael B. Dinkins, Guanghu Wang, Haiyan Qin, Zhihui Zhu, Priyanka Tripathi, Simone M. Crivelli, Erhard Bieberich

Open Access Alzheimer's Disease Research

Distinct molecular patterns of TDP-43 pathology in Alzheimer’s disease: relationship with clinical phenotypes

Sandra O. Tomé, Rik Vandenberghe, Simona Ospitalieri, Evelien Van Schoor, Thomas Tousseyn, Markus Otto, Christine A. F. von Arnim, Dietmar Rudolf Thal

Open Access Neurofibromatosis Type 1 Research

Differential gene methylation and expression of HOX transcription factor family in orbitofacial neurofibroma

Antje Arnold, Eddie Luidy Imada, M. Lisa Zhang, Deepak P. Edward, Luigi Marchionni, Fausto J. Rodriguez

Open Access Glioma Review

RNA modifications in brain tumorigenesis

Albert Z. Huang, Alberto Delaidelli, Poul H. Sorensen

Open Access Amyotrophic Lateral Sclerosis Research

Transmission of ALS pathogenesis by the cerebrospinal fluid

Pooja Shree Mishra, Hejer Boutej, Geneviève Soucy, Christine Bareil, Sunny Kumar, Vincent Picher-Martel, Nicolas Dupré, Jasna Kriz, Jean-Pierre Julien

Open Access Multiple Sclerosis Research

Persistent elevation of intrathecal pro-inflammatory cytokines leads to multiple sclerosis-like cortical demyelination and neurodegeneration

Rachel E. James, Renee Schalks, Eleanor Browne, Ioanna Eleftheriadou, Carmen Picon Munoz, Nicholas D. Mazarakis, Richard Reynolds

Open Access Alzheimer's Disease Research

Behavioral and electrophysiological evidence for a neuroprotective role of aquaporin-4 in the 5xFAD transgenic mice model

Yoichiro Abe, Natsumi Ikegawa, Keitaro Yoshida, Kyosuke Muramatsu, Satoko Hattori, Kenji Kawai, Minetaka Murakami, Takumi Tanaka, Wakami Goda, Motohito Goto, Taichi Yamamoto, Tadafumi Hashimoto, Kaoru Yamada, Terumasa Shibata, Hidemi Misawa, Masaru Mimura, Kenji F. Tanaka, Tsuyoshi Miyakawa, Takeshi Iwatsubo, Jun-ichi Hata, Takako Niikura, Masato Yasui

Open Access Craniopharyngioma Research

Transcriptional analyses of adult and pediatric adamantinomatous craniopharyngioma reveals similar expression signatures regarding potential therapeutic targets

Eric Prince, Ros Whelan, Andrew Donson, Susan Staulcup, Astrid Hengartner, Trinka Vijmasi, Chibueze Agwu, Kevin O. Lillehei, Nicholas K. Foreman, James M. Johnston, Luca Massimi, Richard C. E. Anderson, Mark M. Souweidane, Robert P. Naftel, David D. Limbrick, Gerald Grant, Toba N. Niazi, Roy Dudley, Lindsay Kilburn, Eric M. Jackson, George I. Jallo, Kevin Ginn, Amy Smith, Joshua J. Chern, Amy Lee, Annie Drapeau, Mark D. Krieger, Michael H. Handler, Todd C. Hankinson

Open Access Correction

Correction to: Differential gene methylation and expression of HOX transcription factor family in orbitofacial neurofibroma

Antje Arnold, Eddie Luidy Imada, M. Lisa Zhang, Deepak P. Edward, Luigi Marchionni, Fausto J. Rodriguez

Open Access Medulloblastoma Research

Restoration of miR-193a expression is tumor-suppressive in MYC amplified Group 3 medulloblastoma

Harish Shrikrishna Bharambe, Annada Joshi, Kedar Yogi, Sadaf Kazi, Neelam Vishwanath Shirsat

Open Access Letter to the Editor

Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis

Conceição Bettencourt, Ignazio S. Piras, Sandrine C. Foti, Joshua Talboom, Yasuo Miki, Tammaryn Lashley, Robert Balazs, Emmanuelle Viré, Thomas T. Warner, Matt J. Huentelman, Janice L. Holton

Open Access Research

Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

Liam Kempthorne, Hyejin Yoon, Charlotte Madore, Scott Smith, Zbigniew K. Wszolek, Rosa Rademakers, Jungsu Kim, Oleg Butovsky, Dennis W. Dickson

Open Access Non-Tuberculous Mycobacteria Case report

Meningomyeloencephalitis secondary to Mycobacterium haemophilum infection in AIDS

Sandra Leskinen, Xena Flowers, Katharina Thoene, Anne-Catrin Uhlemann, James E. Goldman, Richard A. Hickman

Open Access Research

Humanized tau antibodies promote tau uptake by human microglia without any increase of inflammation

Monika Zilkova, Anna Nolle, Branislav Kovacech, Eva Kontsekova, Petronela Weisova, Peter Filipcik, Rostislav Skrabana, Michal Prcina, Tomas Hromadka, Ondrej Cehlar, Gabriela Paulikova Rolkova, Denisa Maderova, Michal Novak, Norbert Zilka, Jeroen J. M. Hoozemans

Open Access Myopathy Letter to the Editor

Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

Rie Saito, Hiroshi Shimizu, Takeshi Miura, Norikazu Hara, Naomi Mezaki, Yo Higuchi, Akinori Miyashita, Izumi Kawachi, Kazuhiro Sanpei, Yoshiaki Honma, Osamu Onodera, Takeshi Ikeuchi, Akiyoshi Kakita

Open Access Alzheimer's Disease Research

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen, Joshua Talboom, Lorida Llaci, Matthew D. De Both, Marcus A. Naymik, Glenda Halliday, Conceicao Bettencourt, Janice L. Holton, Geidy E. Serrano, Lucia I. Sue, Thomas G. Beach, Nadia Stefanova, Matthew J. Huentelman

Open Access Huntington's Disease Research

No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington’s disease

Ting-Ting Huang, Ruben Smith, Karl Bacos, Dong-Yan Song, Richard M. Faull, Henry J. Waldvogel, Jia-Yi Li

Open Access Imatinib Research

Cerebrospinal fluid penetration of targeted therapeutics in pediatric brain tumor patients

Armin Sebastian Guntner, Andreas Peyrl, Lisa Mayr, Bernhard Englinger, Walter Berger, Irene Slavc, Wolfgang Buchberger, Johannes Gojo

Open Access Alzheimer's Disease Research

The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer’s disease

Kunie Ando, Marième Ndjim, Sabrina Turbant, Gaëlle Fontaine, Gustavo Pregoni, Luce Dauphinot, Zehra Yilmaz, Valérie Suain, Salwa Mansour, Michèle Authelet, Robert De Dekker, Karelle Leroy, Benoît Delatour, Franck Letournel, Marie-Laure Martin-Négrier, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Susana Boluda, Isabelle Plu, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes, Charles Duyckaerts, Marie-Claude Potier, Jean-Pierre Brion

Open Access Glioma Research

Fusions involving BCOR and CREBBP are rare events in infiltrating glioma

David J. Pisapia, Kentaro Ohara, Rohan Bareja, David C. Wilkes, Erika Hissong, Jaclyn A. Croyle, Joon-Hyung Kim, Jad Saab, Theresa Y. MacDonald, Shaham Beg, Catherine O’Reilly, Sarah Kudman, Mark A. Rubin, Olivier Elemento, Andrea Sboner, Jeffrey Greenfield, Juan Miguel Mosquera

Open Access Stroke Research

Characterization of the TNF and IL-1 systems in human brain and blood after ischemic stroke

Bettina H. Clausen, Martin Wirenfeldt, Sofie S. Høgedal, Lars H. Frich, Helle H. Nielsen, Henrik D. Schrøder, Kamilla Østergaard, Bente Finsen, Bjarne W. Kristensen, Kate L. Lambertsen

Open Access Meningioma Case report

DNA methylation profiling demonstrates superior diagnostic classification to RNA-sequencing in a case of metastatic meningioma

Harish N. Vasudevan, Maria R. H. Castro, Julieann C. Lee, Javier E. Villanueva-Meyer, Nancy Ann Oberheim Bush, Michael W. McDermott, David A. Solomon, Arie Perry, Stephen T. Magill, David R. Raleigh

Open Access Creutzfeldt-Jakob Disease Research

Transmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes

Anne Ward, Jason R. Hollister, Kristin McNally, Diane L. Ritchie, Gianluigi Zanusso, Suzette A. Priola

Open Access Magnetic Resonance Imaging Research

Transplantation of induced neural stem cells (iNSCs) into chronically demyelinated corpus callosum ameliorates motor deficits

Genevieve M. Sullivan, Andrew K. Knutsen, Luca Peruzzotti-Jametti, Alexandru Korotcov, Asamoah Bosomtwi, Bernard J. Dardzinski, Joshua D. Bernstock, Sandra Rizzi, Frank Edenhofer, Stefano Pluchino, Regina C. Armstrong

Open Access Creutzfeldt-Jakob Disease Research

A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease

Satish K. Nemani, Xiangzhu Xiao, Ignazio Cali, Laura Cracco, Gianfranco Puoti, Massimiliano Nigro, Jody Lavrich, Anuradha Bharara Singh, Brian S. Appleby, Valerie L. Sim, Silvio Notari, Witold K. Surewicz, Pierluigi Gambetti

Open Access Doxycycline Research

Phosphorylation and oligomerization of α-synuclein associated with GSK-3β activation in the rTg4510 mouse model of tauopathy

Yuta Takaichi, James K. Chambers, Hiroyuki Inoue, Yasuhisa Ano, Akihiko Takashima, Hiroyuki Nakayama, Kazuyuki Uchida

Open Access Glioblastoma Research

A novel Cas9-targeted long-read assay for simultaneous detection of IDH1/2 mutations and clinically relevant MGMT methylation in fresh biopsies of diffuse glioma

Thidathip Wongsurawat, Piroon Jenjaroenpun, Annick De Loose, Duah Alkam, David W. Ussery, Intawat Nookaew, Yuet-Kin Leung, Shuk-Mei Ho, John D. Day, Analiz Rodriguez

Open Access Alzheimer's Disease Research

Tau Ser208 phosphorylation promotes aggregation and reveals neuropathologic diversity in Alzheimer’s disease and other tauopathies

Yuxing Xia, Stefan Prokop, Kimberly-Marie M. Gorion, Justin D. Kim, Zachary A. Sorrentino, Brach M. Bell, Alyssa N. Manaois, Paramita Chakrabarty, Peter Davies, Benoit I. Giasson

Open Access Trisomy 21 Research

Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome

Alexandra Botté, Jeanne Lainé, Laura Xicota, Xavier Heiligenstein, Gaëlle Fontaine, Amal Kasri, Isabelle Rivals, Pollyanna Goh, Orestis Faklaris, Jack-Christophe Cossec, Etienne Morel, Anne-Sophie Rebillat, Dean Nizetic, Graça Raposo, Marie-Claude Potier

Open Access Correction

Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

Liam Kempthorne, Hyejin Yoon, Charlotte Madore, Scott Smith, Zbigniew K. Wszolek, Rosa Rademakers, Jungsu Kim, Oleg Butovsky, Dennis W. Dickson

Open Access Amyotrophic Lateral Sclerosis Research

Global alterations to the choroid plexus blood-CSF barrier in amyotrophic lateral sclerosis

J. Saul, E. Hutchins, R. Reiman, M. Saul, L. W. Ostrow, B. T. Harris, K. Van Keuren-Jensen, R. Bowser, N. Bakkar

Open Access Multiple Sclerosis Case report

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca

Open Access Pathology Letter to the Editor

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia

Kunie Ando, Lorenzo Ferlini, Valérie Suain, Zehra Yilmaz, Salwa Mansour, Isabelle Le Ber, Cécile Bouchard, Karelle Leroy, Alexandra Durr, Fabienne Clot, Marie Sarazin, Jean-Christophe Bier, Jean-Pierre Brion

Open Access Astrocytoma Case report

Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases

Romain Appay, Mélanie Pages, Carole Colin, David T. W. Jones, Pascale Varlet, Dominique Figarella-Branger

Open Access Closed Head Injury Research

Fyn kinase inhibition reduces protein aggregation, increases synapse density and improves memory in transgenic and traumatic Tauopathy

Si Jie Tang, Arman Fesharaki-Zadeh, Hideyuki Takahashi, Sarah Helena Nies, Levi M. Smith, Anin Luo, Annabel Chyung, Marius Chiasseu, Stephen M. Strittmatter

Open Access Huntington's Disease Research

Excess Rab4 rescues synaptic and behavioral dysfunction caused by defective HTT-Rab4 axonal transport in Huntington’s disease

Joseph A. White II, Thomas J. Krzystek, Hayley Hoffmar-Glennon, Claire Thant, Katherine Zimmerman, Gary Iacobucci, Julia Vail, Layne Thurston, Saad Rahman, Shermali Gunawardena

Open Access Amyotrophic Lateral Sclerosis Research

Quantitative patterns of motor cortex proteinopathy across ALS genotypes

Matthew Nolan, Connor Scott, Menuka Pallebage Gamarallage, Daniel Lunn, Kilda Carpenter, Elizabeth McDonough, Dan Meyer, Sireesha Kaanumalle, Alberto Santamaria-Pang, Martin R. Turner, Kevin Talbot, Olaf Ansorge

Open Access Alzheimer's Disease Research

Disturbed balance in the expression of MMP9 and TIMP3 in cerebral amyloid angiopathy-related intracerebral haemorrhage

Lieke Jäkel, H. Bea Kuiperij, Lara P. Gerding, Emma E. M. Custers, Emma van den Berg, Wilmar M. T. Jolink, Floris H. B. M. Schreuder, Benno Küsters, Catharina J. M. Klijn, Marcel M. Verbeek

Open Access Alzheimer's Disease Letter to the Editor

In vivo evidence of exosome-mediated Aβ neurotoxicity

Ahmed Elsherbini, Haiyan Qin, Zhihui Zhu, Priyanka Tripathi, Simone M. Crivelli, Erhard Bieberich

Open Access Ependymoma Research

High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma

Mark Raffeld, Zied Abdullaev, Svetlana D. Pack, Liqiang Xi, Sushma Nagaraj, Nicole Briceno, Elizabeth Vera, Stefania Pittaluga, Osorio Lopes Abath Neto, Martha Quezado, Kenneth Aldape, Terri S. Armstrong, Mark R. Gilbert

Open Access Parkinson's Disease Research

Erythrocytic α-synuclein contained in microvesicles regulates astrocytic glutamate homeostasis: a new perspective on Parkinson’s disease pathogenesis

Lifu Sheng, Tessandra Stewart, Dishun Yang, Eric Thorland, David Soltys, Patrick Aro, Tarek Khrisat, Zhiying Xie, Na Li, Zongran Liu, Chen Tian, Matthew Bercow, Junichi Matsumoto, Cyrus P. Zabetian, Elaine Peskind, Joseph F. Quinn, Min Shi, Jing Zhang

Open Access Dementia Research

Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies

Christopher Hatton, Amy Reeve, Nichola Zoe Lax, Alasdair Blain, Yi Shiau Ng, Omar El-Agnaf, Johannes Attems, John-Paul Taylor, Doug Turnbull, Daniel Erskine

Open Access Glioma Letter to the Editor

The pediatric supratentorial MYCN-amplified high-grade gliomas methylation class presents the same radiological, histopathological and molecular features as their pontine counterparts

A. Tauziède-Espariat, M-A Debily, D. Castel, J. Grill, S. Puget, A. Roux, R. Saffroy, M. Pagès, A. Gareton, F. Chrétien, E. Lechapt, V. Dangouloff-Ros, N. Boddaert, P. Varlet

Open Access Brain Tumor Research

Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes

Maria Łastowska, Joanna Trubicka, Anna Sobocińska, Bartosz Wojtas, Magdalena Niemira, Anna Szałkowska, Adam Krętowski, Agnieszka Karkucińska-Więckowska, Magdalena Kaleta, Maria Ejmont, Marta Perek-Polnik, Bożenna Dembowska-Bagińska, Wiesława Grajkowska, Ewa Matyja

Open Access Research

Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation

Meng-Han Tsai, Haw-Yuan Cheng, Fang-Shin Nian, Chen Liu, Nian-Hsin Chao, Kuo-Liang Chiang, Shu-Fang Chen, Jin-Wu Tsai

Open Access Glioma Research

Molecular and clinicopathologic features of gliomas harboring NTRK fusions

Matthew Torre, Varshini Vasudevaraja, Jonathan Serrano, Michael DeLorenzo, Seth Malinowski, Anne-Florence Blandin, Melanie Pages, Azra H. Ligon, Fei Dong, David M. Meredith, MacLean P. Nasrallah, Craig Horbinski, Sonika Dahiya, Keith L. Ligon, Mariarita Santi, Shakti H. Ramkissoon, Mariella G. Filbin, Matija Snuderl, Sanda Alexandrescu

Open Access Hydrocephalus Research

Fyn depletion ameliorates tauP301L-induced neuropathology

Guanghao Liu, Kimberly L. Fiock, Yona Levites, Todd E. Golde, Marco M. Hefti, Gloria Lee

Open Access Alzheimer's Disease Research

The unfolded protein response is activated in the olfactory system in Alzheimer’s disease

Helen C. Murray, Birger Victor Dieriks, Molly E. V. Swanson, Praju Vikas Anekal, Clinton Turner, Richard L. M. Faull, Leonardo Belluscio, Alan Koretsky, Maurice A. Curtis

Open Access Amyotrophic Lateral Sclerosis Research

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease

John L. Goodier, Alisha O. Soares, Gavin C. Pereira, Lauren R. DeVine, Laura Sanchez, Robert N. Cole, Jose Luis García-Pérez

Open Access Glioma Research

Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma

M.-M. Georgescu, M. Z. Islam, Y. Li, M. L. Circu, J. Traylor, C. M. Notarianni, C. N. Kline, D. K. Burns

Open Access Brain Tumor Letter to the Editor

A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult

Kyungmin Ko, Takashi Kitani, Brent T. Harris, Amjad N. Anaizi, David Solomon, Arie Perry, Jeffrey Toretsky, Metin Ozdemirli

Open Access Case report

Orbital Rosai-Dorfman disease initially diagnosed as IgG4-related disease: a case report

Nishanth S. Iyengar, Danielle Golub, Michelle W. McQuinn, Travis Hill, Karen Tang, Sharon L. Gardner, David H. Harter, Chandranath Sen, David A. Staffenberg, Kristen Thomas, Zachary Elkin, Irina Belinsky, Christopher William

Open Access Meningioma Research

Meningioma cells express primary cilia but do not transduce ciliary Hedgehog signals

Sarah Findakly, Abrar Choudhury, Vikas Daggubati, Melike Pekmezci, Ursula E. Lang, David R. Raleigh

Open Access Astrocytoma Case report

A dual-genotype oligoastrocytoma with histologic, molecular, radiological and time-course features

Mac Lean P. Nasrallah, Arati Desai, Donald M. O’Rourke, Lea F. Surrey, Joel M. Stein

Open Access Amyotrophic Lateral Sclerosis Research

Loss of Tdp-43 disrupts the axonal transcriptome of motoneurons accompanied by impaired axonal translation and mitochondria function

Michael Briese, Lena Saal-Bauernschubert, Patrick Lüningschrör, Mehri Moradi, Benjamin Dombert, Verena Surrey, Silke Appenzeller, Chunchu Deng, Sibylle Jablonka, Michael Sendtner

Open Access Parkinson's Disease Review

Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids

Niccolò Candelise, Simone Baiardi, Alessia Franceschini, Marcello Rossi, Piero Parchi

Open Access Respiratory Microbiota Research

Different effects of constitutive and induced microbiota modulation on microglia in a mouse model of Alzheimer’s disease

Charlotte Mezö, Nikolaos Dokalis, Omar Mossad, Ori Staszewski, Jana Neuber, Bahtiyar Yilmaz, Daniel Schnepf, Mercedes Gomez de Agüero, Stephanie C. Ganal-Vonarburg, Andrew J. Macpherson, Melanie Meyer-Luehmann, Peter Staeheli, Thomas Blank, Marco Prinz, Daniel Erny

Open Access Pathology Research

BCAS1-positive immature oligodendrocytes are affected by the α-synuclein-induced pathology of multiple system atrophy

Seiji Kaji, Takakuni Maki, Jun Ueda, Tomoyuki Ishimoto, Yutaka Inoue, Ken Yasuda, Masanori Sawamura, Rie Hikawa, Takashi Ayaki, Hodaka Yamakado, Ryosuke Takahashi

Open Access Pathology Correction

Correction to: Different aspects of Alzheimer’s disease-related amyloid β-peptide pathology and their relationship to amyloid positron emission tomography imaging and dementia

Dietmar Rudolf Thal, Alicja Ronisz, Thomas Tousseyn, Ajeet Rijal Upadhaya, Karthikeyan Balakrishnan, Rik Vandenberghe, Mathieu Vandenbulcke, Christine A. F. von Arnim, Markus Otto, Thomas G. Beach, Johan Lilja, Kerstin Heurling, Aruna Chakrabarty, Azzam Ismail, Christopher Buckley, Adrian P. L. Smith, Sathish Kumar, Gill Farrar, Jochen Walter

Open Access Amyotrophic Lateral Sclerosis Research

The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD

Fang He, Brittany N. Flores, Amy Krans, Michelle Frazer, Sam Natla, Sarjina Niraula, Olamide Adefioye, Sami J. Barmada, Peter K. Todd

Open Access Correction

Correction to: Brain-derived exosomes from dementia with Lewy bodies propagate α-synuclein pathology

Jennifer Ngolab, Ivy Trinh, Edward Rockenstein, Michael Mante, Jazmin Florio, Margarita Trejo, Deborah Masliah, Anthony Adame, Eliezer Masliah, Robert A. Rissman

Open Access Medulloblastoma Research

A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology

Julia Lorenz, Tanja Rothhammer-Hampl, Saida Zoubaa, Elisabeth Bumes, Tobias Pukrop, Oliver Kölbl, Selim Corbacioglu, Nils O. Schmidt, Martin Proescholdt, Peter Hau, Markus J. Riemenschneider

Open Access Juvenile Dermatomyositis Research

Distinct tissue injury patterns in juvenile dermatomyositis auto-antibody subgroups

Mailan Nguyen, Vy Do, Paul C. Yell, Chanhee Jo, Jie Liu, Dennis K. Burns, Tracey Wright, Chunyu Cai

Open Access Research

Intramuscular injection of vectorized-scFvMC1 reduces pathological tau in two different tau transgenic models

Francesca Vitale, Jasmin Ortolan, Bruce T. Volpe, Philippe Marambaud, Luca Giliberto, Cristina d’Abramo

Open Access Parkinson's Disease Research

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity

Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. MacBain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson, Penelope J. Hallett

Open Access Intramedullary Astrocytoma Research

Clinical, radiological and molecular characterization of intramedullary astrocytomas

Laetitia Lebrun, Barbara Meléndez, Oriane Blanchard, Nancy De Nève, Claude Van Campenhout, Julie Lelotte, Danielle Balériaux, Matteo Riva, Jacques Brotchi, Michaël Bruneau, Olivier De Witte, Christine Decaestecker, Nicky D’Haene, Isabelle Salmon

Open Access Alzheimer's Disease Research

Microglia depletion diminishes key elements of the leukotriene pathway in the brain of Alzheimer’s Disease mice

J. Michael, M. S. Unger, R. Poupardin, P. Schernthaner, H. Mrowetz, J. Attems, L. Aigner

Open Access Dementia Research

Demonstrating a reduced capacity for removal of fluid from cerebral white matter and hypoxia in areas of white matter hyperintensity associated with age and dementia

Matthew MacGregor Sharp, Satoshi Saito, Abby Keable, Maureen Gatherer, Roxana Aldea, Nivedita Agarwal, Julie E. Simpson, Stephen B. Wharton, Roy O. Weller, Roxana O. Carare

Open Access Alzheimer's Disease Research

P53 aggregation, interactions with tau, and impaired DNA damage response in Alzheimer’s disease

Kathleen M. Farmer, Gaurav Ghag, Nicha Puangmalai, Mauro Montalbano, Nemil Bhatt, Rakez Kayed

Open Access Parkinson's Disease Research

Prominent microglial inclusions in transgenic mouse models of α-synucleinopathy that are distinct from neuronal lesions

Gaye Tanriöver, Mehtap Bacioglu, Manuel Schweighauser, Jasmin Mahler, Bettina M. Wegenast-Braun, Angelos Skodras, Ulrike Obermüller, Melanie Barth, Deborah Kronenberg-Versteeg, K. Peter R. Nilsson, Derya R. Shimshek, Philipp J. Kahle, Yvonne S. Eisele, Mathias Jucker

Open Access Letter to the Editor

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Rie Saito, Norikazu Hara, Mari Tada, Yoshiaki Honma, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi, Akiyoshi Kakita

Open Access Multiple Sclerosis Research

Lipid-specific IgMs induce antiviral responses in the CNS: implications for progressive multifocal leukoencephalopathy in multiple sclerosis

Lorna Hayden, Tiia Semenoff, Verena Schultz, Simon F. Merz, Katie J. Chapple, Moses Rodriguez, Arthur E. Warrington, Xiaohong Shi, Clive S. McKimmie, Julia M. Edgar, Katja Thümmler, Chris Linington, Marieke Pingen

Open Access Multiple Sclerosis Research

Single-cell mass cytometry reveals complex myeloid cell composition in active lesions of progressive multiple sclerosis

Chotima Böttcher, Marlijn van der Poel, Camila Fernández-Zapata, Stephan Schlickeiser, Julia K. H. Leman, Cheng-Chih Hsiao, Mark R. Mizee, Adelia, Maria C. J. Vincenten, Desiree Kunkel, Inge Huitinga, Jörg Hamann, Josef Priller

Open Access Alzheimer's Disease Research

Tau reduction in aged mice does not impact Microangiopathy

Rachel E. Bennett, Miwei Hu, Analiese Fernandes, Marta Perez-Rando, Ashley Robbins, Tarun Kamath, Simon Dujardin, Bradley T. Hyman

Open Access Amyotrophic Lateral Sclerosis Research

RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM

Nandini Ramesh, Sukhleen Kour, Eric N. Anderson, Dhivyaa Rajasundaram, Udai Bhan Pandey

Open Access Positron Emission Tomography Case report

BRAF V600E mutation mediates FDG-methionine uptake mismatch in polymorphous low-grade neuroepithelial tumor of the young

Kensuke Tateishi, Naoki Ikegaya, Naoko Udaka, Jo Sasame, Takahiro Hayashi, Yohei Miyake, Tetsuhiko Okabe, Ryogo Minamimoto, Hidetoshi Murata, Daisuke Utsunomiya, Shoji Yamanaka, Tetsuya Yamamoto

Defining novel functions for cerebrospinal fluid in ALS pathophysiology

Koy Chong Ng Kee Kwong, Arpan R. Mehta, Maiken Nedergaard, Siddharthan Chandran

Open Access Trisomy 21 Research

Assessment of radial glia in the frontal lobe of fetuses with Down syndrome

Ana A. Baburamani, Regina T. Vontell, Alena Uus, Maximilian Pietsch, Prachi A. Patkee, Jo Wyatt-Ashmead, Evonne C. Chin-Smith, Veena G. Supramaniam, J. Donald Tournier, Maria Deprez, Mary A. Rutherford

Open Access Myopathy Research

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak

Open Access Alzheimer's Disease Research

Increased levels of Stress-inducible phosphoprotein-1 accelerates amyloid-β deposition in a mouse model of Alzheimer’s disease

Rachel E. Lackie, Jose Marques-Lopes, Valeriy G. Ostapchenko, Sarah Good, Wing-Yiu Choy, Patricija van Oosten-Hawle, Stephen H. Pasternak, Vania F. Prado, Marco A. M. Prado

Open Access Gaucher Disease Research

Innate immune response in neuronopathic forms of Gaucher disease confers resistance against viral-induced encephalitis

Sharon Melamed, Roy Avraham, Deborah E. Rothbard, Noam Erez, Tomer Israely, Ziv Klausner, Anthony H. Futerman, Nir Paran, Einat B. Vitner

Open Access Glioblastoma Case report

New somatic TERT promoter variants enhance the Telomerase activity in Glioblastoma

Tiziana Pierini, Carlotta Nardelli, Anair Graciela Lema Fernandez, Valentina Pierini, Fabrizia Pellanera, Valeria Nofrini, Paolo Gorello, Martina Moretti, Silvia Arniani, Giovanni Roti, Paolo Giovenali, Marco Lupattelli, Giulio Metro, Carmen Molica, Corrado Castrioto, Rodolfo Corinaldesi, Maria Elena Laurenti, Stefano Ascani, Cristina Mecucci, Roberta La Starza

Open Access Tamoxifen Research

Acute brain injuries trigger microglia as an additional source of the proteoglycan NG2

Wenhui Huang, Xianshu Bai, Erika Meyer, Anja Scheller

Open Access SARS-CoV-2 Case report

Neuronophagia and microglial nodules in a SARS-CoV-2 patient with cerebellar hemorrhage

Osama Al-Dalahmah, Kiran T. Thakur, Anna S. Nordvig, Morgan L. Prust, William Roth, Angela Lignelli, Anne-Catrin Uhlemann, Emily Happy Miller, Shajo Kunnath-Velayudhan, Armando Del Portillo, Yang Liu, Gunnar Hargus, Andrew F. Teich, Richard A. Hickman, Kurenai Tanji, James E. Goldman, Phyllis L. Faust, Peter Canoll

Open Access Progressive Supranuclear Palsy Case report

Unclassified four-repeat tauopathy associated with familial parkinsonism and progressive respiratory failure

Masayoshi Nakano, Yuichi Riku, Kenya Nishioka, Masato Hasegawa, Yukihiko Washimi, Yutaka Arahata, Akinori Takeda, Kentaro Horibe, Akiko Yamaoka, Keisuke Suzuki, Masashi Tsujimoto, Yuanzhe Li, Hiroyo Yoshino, Nobutaka Hattori, Akio Akagi, Hiroaki Miyahara, Yasushi Iwasaki, Mari Yoshida

Open Access Alzheimer's Disease Research

Regional correlation of biochemical measures of amyloid and tau phosphorylation in the brain

Kanta Horie, Nicolas R. Barthélemy, Nipun Mallipeddi, Yan Li, Erin E. Franklin, Richard J. Perrin, Randall J. Bateman, Chihiro Sato

Open Access Pathology Research

Trans-synaptic and retrograde axonal spread of Lewy pathology following pre-formed fibril injection in an in vivo A53T alpha-synuclein mouse model of synucleinopathy

Allison J. Schaser, Teresa L. Stackhouse, Leah J. Weston, Patrick C. Kerstein, Valerie R. Osterberg, Claudia S. López, Dennis W. Dickson, Kelvin C. Luk, Charles K. Meshul, Randall L. Woltjer, Vivek K. Unni

Open Access Astrocytoma Research

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor

Calixto-Hope G. Lucas, Rohit Gupta, Pamela Doo, Julieann C. Lee, Cathryn R. Cadwell, Biswarathan Ramani, Jeffrey W. Hofmann, Emily A. Sloan, Bette K. Kleinschmidt-DeMasters, Han S. Lee, Matthew D. Wood, Marjorie Grafe, Donald Born, Hannes Vogel, Shahriar Salamat, Diane Puccetti, David Scharnhorst, David Samuel, Tabitha Cooney, Elaine Cham, Lee-way Jin, Ziad Khatib, Ossama Maher, Gabriel Chamyan, Carole Brathwaite, Serguei Bannykh, Sabine Mueller, Cassie N. Kline, Anu Banerjee, Alyssa Reddy, Jennie W. Taylor, Jennifer L. Clarke, Nancy Ann Oberheim Bush, Nicholas Butowski, Nalin Gupta, Kurtis I. Auguste, Peter P. Sun, Jarod L. Roland, Corey Raffel, Manish K. Aghi, Philip Theodosopoulos, Edward Chang, Shawn Hervey-Jumper, Joanna J. Phillips, Melike Pekmezci, Andrew W. Bollen, Tarik Tihan, Susan Chang, Mitchel S. Berger, Arie Perry, David A. Solomon

Open Access Spinocerebellar Ataxia Research

The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples

Diana Duarte Lobo, Rui Jorge Nobre, Catarina Oliveira Miranda, Dina Pereira, João Castelhano, José Sereno, Arnulf Koeppen, Miguel Castelo-Branco, Luís Pereira de Almeida

Open Access Myopathy Research

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil, Julian Uszkoreit, Andreas Unger, Gregor Kirfel, Peter F. M. van der Ven, Katrin Marcus, Wolfgang A. Linke, Christoph S. Clemen, Rolf Schröder, Dieter O. Fürst

Open Access Melanoma Case report

Proteogenomic analysis of melanoma brain metastases from distinct anatomical sites identifies pathways of metastatic progression

Erin M. Taylor, Stephanie D. Byrum, Jacob L. Edmondson, Christopher P. Wardell, Brittany G. Griffin, Sara C. Shalin, Murat Gokden, Issam Makhoul, Alan J. Tackett, Analiz Rodriguez

Open Access Frontotemporal Dementia Research

Co-expression of C9orf72 related dipeptide-repeats over 1000 repeat units reveals age- and combination-specific phenotypic profiles in Drosophila

Ryan J. H. West, Joanne L. Sharpe, André Voelzmann, Anna L. Munro, Ines Hahn, Richard A. Baines, Stuart Pickering-Brown

Open Access Cytokines Research

Activation of Toll-like receptor 5 in microglia modulates their function and triggers neuronal injury

Masataka Ifuku, Lukas Hinkelmann, Leonard D. Kuhrt, Ibrahim E. Efe, Victor Kumbol, Alice Buonfiglioli, Christina Krüger, Philipp Jordan, Marcus Fulde, Mami Noda, Helmut Kettenmann, Seija Lehnardt

Open Access Alzheimer's Disease Research

Assessment of genetic risk for improved clinical-neuropathological correlations

Barbara E. Spencer, Robin G. Jennings, Chun C. Fan, James B. Brewer

Open Access Amyotrophic Lateral Sclerosis Research

Aggregate-selective antibody attenuates seeded aggregation but not spontaneously evolving disease in SOD1 ALS model mice

Manuela Lehmann, Matthew Marklund, Anna-Lena Bolender, Elaheh E. Bidhendi, Per Zetterström, Peter M. Andersen, Thomas Brännström, Stefan L. Marklund, Jonathan D. Gilthorpe, Ulrika Nordström

Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures

Rebecca R. Valentino, Nikoleta Tamvaka, Michael G. Heckman, Patrick W. Johnson, Alexandra I. Soto-Beasley, Ronald L. Walton, Shunsuke Koga, Ryan J. Uitti, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross

Open Access Frontotemporal Dementia Research

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations

Meixiang Huang, Erica Modeste, Eric Dammer, Paola Merino, Georgia Taylor, Duc M. Duong, Qiudong Deng, Christopher J. Holler, Marla Gearing, Dennis Dickson, Nicholas T. Seyfried, Thomas Kukar

Open Access Research

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts

Open Access Nilvadipin Research

Nilvadipine suppresses inflammation via inhibition of P-SYK and restores spatial memory deficits in a mouse model of repetitive mild TBI

Alexander Morin, Benoit Mouzon, Scott Ferguson, Daniel Paris, Mackenzie Browning, William Stewart, Mike Mullan, Fiona Crawford

Open Access Myopathy Research

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala

Open Access Alzheimer's Disease Research

Synaptic and metabolic gene expression alterations in neurons that are recipients of proteopathic tau seeds

Marta Perez-Rando, Simon Dujardin, Rachel E. Bennett, Caitlin Commins, Tara Nibhanupudy, Bradley T. Hyman

Open Access Alzheimer's Disease Research

Identification of a dysfunctional microglial population in human Alzheimer’s disease cortex using novel single-cell histology image analysis

Molly E. V. Swanson, Emma L. Scotter, Leon C. D. Smyth, Helen C. Murray, Brigid Ryan, Clinton Turner, Richard L. M. Faull, Mike Dragunow, Maurice A. Curtis

Open Access Meningioma Research

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic

Erik A. Williams, Sandro Santagata, Hiroaki Wakimoto, Ganesh M. Shankar, Fred G. Barker II, Radwa Sharaf, Abhinav Reddy, Phoebe Spear, Brian M. Alexander, Jeffrey S. Ross, Priscilla K. Brastianos, Daniel P. Cahill, Shakti H. Ramkissoon, Tareq A. Juratli

Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy

Samantha L. Strickland, Hélène Morel, Christian Prusinski, Mariet Allen, Tulsi A. Patel, Minerva M. Carrasquillo, Olivia J. Conway, Sarah J. Lincoln, Joseph S. Reddy, Thuy Nguyen, Kimberly G. Malphrus, Alexandra I. Soto, Ronald L. Walton, Julia E. Crook, Melissa E. Murray, Bradley F. Boeve, Ronald C. Petersen, John A. Lucas, Tanis J. Ferman, Ryan J. Uitti, Zbigniew K. Wszolek, Owen A. Ross, Neill R. Graff-Radford, Dennis W. Dickson, Nilüfer Ertekin-Taner

Open Access Ependymoma Research

Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma

Chenan Zhang, Quinn T. Ostrom, Eleanor C. Semmes, Vijay Ramaswamy, Helen M. Hansen, Libby Morimoto, Adam J. de Smith, Melike Pekmezci, Zalman Vaksman, Hakon Hakonarson, Sharon J. Diskin, Catherine Metayer, Elizabeth B. Claus, Dora Il’yasova, Kyle M. Walsh, Joellen Schildkraut, Jill S. Barnholtz-Sloan, Sara H. Olson, Jonine L. Bernstein, Christoffer Johansen, Robert B. Jenkins, Beatrice S. Melin, Margaret R. Wrensch, Richard S. Houlston, Melissa L. Bondy, Michael D. Taylor, Joseph L. Wiemels, Melissa L. Bondy, Kyle M. Walsh

Open Access Central Nervous System Trauma Research

Targeted deletions of complement lectin pathway genes improve outcome in traumatic brain injury, with MASP-2 playing a major role

D. Mercurio, M. Oggioni, S. Fumagalli, N. J. Lynch, S. Roscher, D. Minuta, C. Perego, S. Ippati, R. Wallis, W. J. Schwaeble, M.-G. De Simoni

Open Access Amyotrophic Lateral Sclerosis Research

Intracellular dynamics of Ataxin-2 in the human brains with normal and frontotemporal lobar degeneration with TDP-43 inclusions

Ryohei Watanabe, Shinji Higashi, Takashi Nonaka, Ito Kawakami, Kenichi Oshima, Kazuhiro Niizato, Haruhiko Akiyama, Mari Yoshida, Masato Hasegawa, Tetsuaki Arai

Open Access Amyotrophic Lateral Sclerosis Research

RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3

Nandini Ramesh, Elizabeth L. Daley, Amanda M. Gleixner, Jacob R. Mann, Sukhleen Kour, Darilang Mawrie, Eric N. Anderson, Julia Kofler, Christopher J. Donnelly, Evangelos Kiskinis, Udai Bhan Pandey

Open Access Letter to the Editor

The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”

Arnault Tauziède-Espariat, Gaëlle Pierron, Aurore Siegfried, Delphine Guillemot, Emmanuelle Uro-Coste, Yvan Nicaise, David Castel, Isabelle Catalaa, Delphine Larrieu-Ciron, Patrick Chaynes, Amaury de Barros, Julien Nicolau, Albane Gareton, Emmanuèle Lechapt, Fabrice Chrétien, Franck Bourdeaut, François Doz, Yassine Bouchoucha, Jacques Grill, Kévin Beccaria, Nathalie Boddaert, Raphaël Saffroy, Mélanie Pagès, Pascale Varlet

Open Access Glioblastoma Research

Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma

Maxime Fontanilles, Florent Marguet, Ludivine Beaussire, Nicolas Magne, Louis-Ferdinand Pépin, Cristina Alexandru, Isabelle Tennevet, Chantal Hanzen, Olivier Langlois, Fabrice Jardin, Annie Laquerrière, Nasrin Sarafan-Vasseur, Fréderic Di Fiore, Florian Clatot

Open Access Correction

Correction to: Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC

Bradley R. Groveman, Christina D. Orrù, Andrew G. Hughson, Lynne D. Raymond, Gianluigi Zanusso, Bernardino Ghetti, Katrina J. Campbell, Jiri Safar, Douglas Galasko, Byron Caughey

Open Access Alzheimer's Disease Research

Cerebral amyloid angiopathy aggravates perivascular clearance impairment in an Alzheimer’s disease mouse model

Shin Heun Kim, Ji Hoon Ahn, Hyunwoo Yang, Peter Lee, Gou Young Koh, Yong Jeong

Open Access Glioma Research

Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas

Margot A. Lazow, Lindsey Hoffman, Austin Schafer, Diana S. Osorio, Daniel R. Boué, Sarah Rush, Erin Wright, Adam Lane, Mariko D. DeWire-Schottmiller, Teresa Smolarek, Jared Sipple, Heather Taggert, Jaime Reuss, Ralph Salloum, Trent R. Hummel, Peter de Blank, Natasha Pillay-Smiley, Mary E. Sutton, Anthony Asher, Charles B. Stevenson, Rachid Drissi, Jonathan L. Finlay, Maryam Fouladi, Christine Fuller

Open Access Ependymoma Letter to the Editor

EZHIP is a specific diagnostic biomarker for posterior fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP overexpression

C. Antin, A. Tauziède-Espariat, M.-A. Debily, D. Castel, J. Grill, M. Pagès, O. Ayrault, F. Chrétien, A. Gareton, F. Andreiuolo, E. Lechapt, P. Varlet

Open Access Autism Spectrum Disorder Research

Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms

Pu-Yun Shih, Bing-Yuan Hsieh, Ching-Yen Tsai, Chiu-An Lo, Brian E. Chen, Yi-Ping Hsueh

Open Access Glioblastoma Research

Genetic and epigenetic landscape of IDH-wildtype glioblastomas with FGFR3-TACC3 fusions

Douglas A. Mata, Jamal K. Benhamida, Andrew L. Lin, Chad M. Vanderbilt, Soo-Ryum Yang, Liliana B. Villafania, Donna C. Ferguson, Philip Jonsson, Alexandra M. Miller, Viviane Tabar, Cameron W. Brennan, Nelson S. Moss, Martin Sill, Ryma Benayed, Ingo K. Mellinghoff, Marc K. Rosenblum, Maria E. Arcila, Marc Ladanyi, Tejus A. Bale

Open Access Amyotrophic Lateral Sclerosis Research

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

Karri Kaivola, Samuli J. Salmi, Lilja Jansson, Jyrki Launes, Laura Hokkanen, Anna-Kaisa Niemi, Kari Majamaa, Jari Lahti, Johan G. Eriksson, Timo Strandberg, Hannu Laaksovirta, Pentti J. Tienari

Open Access Spinal Muscular Atrophy Case report

Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

Catherine Elizabeth Pringle, Robert Nelson, Willie Miller, Rashmi Kothary, Jean Michaud

Open Access Parkinson's Disease Review

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation

Peter M. J. Quinn, Paula I. Moreira, António Francisco Ambrósio, C. Henrique Alves

Open Access Neuroendocrine Tumor Research

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

Hélène Lasolle, Mad-Hélénie Elsensohn, Anne Wierinckx, Eudeline Alix, Clément Bonnefille, Alexandre Vasiljevic, Christine Cortet, Bénédicte Decoudier, Nathalie Sturm, Stephan Gaillard, Amandine Ferrière, Pascal Roy, Emmanuel Jouanneau, Philippe Bertolino, Claire Bardel, Damien Sanlaville, Gérald Raverot

Open Access Medulloblastoma Research

Clinical and mutational profiles of adult medulloblastoma groups

Gabriel Chun-Hei Wong, Kay Ka-Wai Li, Wei-Wei Wang, Anthony Pak-Yin Liu, Queenie Junqi Huang, Aden Ka-Yin Chan, Manix Fung-Man Poon, Nellie Yuk-Fei Chung, Queenie Hoi-Wing Wong, Hong Chen, Danny Tat Ming Chan, Xian-Zhi Liu, Ying Mao, Zhen-Yu Zhang, Zhi-Feng Shi, Ho-Keung Ng

Open Access Myopathy Research

In vivo RyR1 reduction in muscle triggers a core-like myopathy

Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty

Open Access Research

Bexarotene normalizes chemotherapy-induced myelin decompaction and reverses cognitive and sensorimotor deficits in mice

Angie C. A. Chiang, Alexandre V. Seua, Pooja Singhmar, Luis D. Arroyo, Rajasekaran Mahalingam, Jian Hu, Annemieke Kavelaars, Cobi J. Heijnen

Open Access Research

Is the eye a window to the brain in Sanfilippo syndrome?

Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson, Kim M. Hemsley

Open Access Research

Microembolus clearance through angiophagy is an auxiliary mechanism preserving tissue perfusion in the rat brain

Anne-Eva van der Wijk, Theodosia Georgakopoulou, Jisca Majolée, Jan S. M. van Bezu, Miesje M. van der Stoel, Bert J. van het Hof, Helga E. de Vries, Stephan Huveneers, Peter L. Hordijk, Erik N. T. P. Bakker, Ed van Bavel

Open Access Parkinson's Disease Research

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

Laura Ibanez, Jorge A. Bahena, Chengran Yang, Umber Dube, Fabiana H. G. Farias, John P. Budde, Kristy Bergmann, Carol Brenner-Webster, John C. Morris, Richard J. Perrin, Nigel J. Cairns, John O’Donnell, Ignacio Álvarez, Monica Diez-Fairen, Miquel Aguilar, Rebecca Miller, Albert A. Davis, Pau Pastor, Paul Kotzbauer, Meghan C. Campbell, Joel S. Perlmutter, Herve Rhinn, Oscar Harari, Carlos Cruchaga, Bruno A. Benitez

Open Access Alzheimer's Disease Research

A novel structure associated with aging is augmented in the DPP6-KO mouse brain

Lin Lin, Ronald S. Petralia, Ross Lake, Ya-Xian Wang, Dax A. Hoffman

Open Access Alzheimer's Disease Research

Anti-Aβ antibodies bound to neuritic plaques enhance microglia activity and mitigate tau pathology

Vanessa Laversenne, Sameer Nazeeruddin, Emma C. Källstig, Philippe Colin, Christel Voize, Bernard L. Schneider

Open Access Rabies Research

Neuroglia infection by rabies virus after anterograde virus spread in peripheral neurons

Madlin Potratz, Luca M. Zaeck, Carlotta Weigel, Antonia Klein, Conrad M. Freuling, Thomas Müller, Stefan Finke

Open Access Spinocerebellar Ataxia Research

Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice

Pamela McMillan, Jeanna Wheeler, Rachel E. Gatlin, Laura Taylor, Tim Strovas, Misa Baum, Thomas D. Bird, Caitlin Latimer, C. Dirk Keene, Brian C. Kraemer, Nicole F. Liachko

Open Access Alzheimer's Disease Research

Retinal capillary degeneration and blood-retinal barrier disruption in murine models of Alzheimer’s disease

Haoshen Shi, Yosef Koronyo, Dieu-Trang Fuchs, Julia Sheyn, Kolja Wawrowsky, Shouri Lahiri, Keith L. Black, Maya Koronyo-Hamaoui

Open Access Glioma Research

TERT promoter mutation confers favorable prognosis regardless of 1p/19q status in adult diffuse gliomas with IDH1/2 mutations

Hideyuki Arita, Yuko Matsushita, Ryunosuke Machida, Kai Yamasaki, Nobuhiro Hata, Makoto Ohno, Shigeru Yamaguchi, Takashi Sasayama, Shota Tanaka, Fumi Higuchi, Toshihiko Iuchi, Kuniaki Saito, Masayuki Kanamori, Ken-ichiro Matsuda, Yohei Miyake, Kaoru Tamura, Sho Tamai, Taishi Nakamura, Takehiro Uda, Yoshiko Okita, Junya Fukai, Daisuke Sakamoto, Yasuhiko Hattori, Eriel Sandika Pareira, Ryusuke Hatae, Yukitomo Ishi, Yasuji Miyakita, Kazuhiro Tanaka, Shunsaku Takayanagi, Ryohei Otani, Tsukasa Sakaida, Keiichi Kobayashi, Ryuta Saito, Kazuhiko Kurozumi, Tomoko Shofuda, Masahiro Nonaka, Hiroyoshi Suzuki, Makoto Shibuya, Takashi Komori, Hikaru Sasaki, Masahiro Mizoguchi, Haruhiko Kishima, Mitsutoshi Nakada, Yukihiko Sonoda, Teiji Tominaga, Motoo Nagane, Ryo Nishikawa, Yonehiro Kanemura, Aya Kuchiba, Yoshitaka Narita, Koichi Ichimura

Open Access Ependymoma Research

Phenotypic characterization with somatic genome editing and gene transfer reveals the diverse oncogenicity of ependymoma fusion genes

Mutsumi Takadera, Kaishi Satomi, Frank Szulzewsky, Patrick J. Cimino, Eric C. Holland, Tetsuya Yamamoto, Koichi Ichimura, Tatsuya Ozawa

Open Access Myopathy Research

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Masashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, Ayami Ozaki, Yasushi Oya, Hirofumi Konishi, Akinori Nakamura, Ryuta Abe, Hiroshi Takai, Ritsuko Hanajima, Hiroshi Doi, Fumiaki Tanaka, Hisayoshi Nakamura, Ikuya Nonaka, Zhaoxia Wang, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

Open Access Amyloidosis Research

Induction of amyloid-β deposits from serially transmitted, histologically silent, Aβ seeds issued from human brains

Anne-Sophie Hérard, Fanny Petit, Charlotte Gary, Martine Guillermier, Susana Boluda, Clément M. Garin, Franck Letournel, Marie-Laure Martin-Négrier, Maxime Faisant, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, Mathilde Duchesne, David Meyronnet, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Susana Boluda, Isabelle Plu, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes, Suzanne Lam, Marc Dhenain

Open Access Epilepsy Research

Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility

Yoneko Hayase, Shigeru Amano, Koichi Hashizume, Takashi Tominaga, Hiroyuki Miyamoto, Yukie Kanno, Yukiko Ueno-Inoue, Takayoshi Inoue, Mayumi Yamada, Shigehiro Ogata, Shabeesh Balan, Ken Hayashi, Yoshiki Miura, Kentaro Tokudome, Yukihiro Ohno, Takuma Nishijo, Toshihiko Momiyama, Yuchio Yanagawa, Akiko Takizawa, Tomoji Mashimo, Tadao Serikawa, Akihiro Sekine, Eiji Nakagawa, Eri Takeshita, Takeo Yoshikawa, Chikako Waga, Ken Inoue, Yu-ichi Goto, Yoichi Nabeshima, Nobuo Ihara, Kazuhiro Yamakawa, Shinichiro Taya, Mikio Hoshino

Open Access Multiple Sclerosis Research

Oligodendrocyte myelin glycoprotein as a novel target for pathogenic autoimmunity in the CNS

Ramona Gerhards, Lena Kristina Pfeffer, Jessica Lorenz, Laura Starost, Luise Nowack, Franziska S. Thaler, Miriam Schlüter, Heike Rübsamen, Caterina Macrini, Stephan Winklmeier, Simone Mader, Mattias Bronge, Hans Grönlund, Regina Feederle, Hung-En Hsia, Stefan F. Lichtenthaler, Juliane Merl-Pham, Stefanie M. Hauck, Tanja Kuhlmann, Isabel J. Bauer, Eduardo Beltran, Lisa Ann Gerdes, Aleksandra Mezydlo, Amit Bar-Or, Brenda Banwell, Mohsen Khademi, Tomas Olsson, Reinhard Hohlfeld, Hans Lassmann, Tania Kümpfel, Naoto Kawakami, Edgar Meinl

Prenatal alcohol exposure is a leading cause of interneuronopathy in humans

Florent Marguet, Gaëlle Friocourt, Mélanie Brosolo, Fanny Sauvestre, Pascale Marcorelles, Céline Lesueur, Stéphane Marret, Bruno J. Gonzalez, Annie Laquerrière

Open Access Glioblastoma Review

Cerebral organoids: emerging ex vivo humanoid models of glioblastoma

Michail-Dimitrios Papaioannou, Kevin Sangster, Rifat Shahriar Sajid, Ugljesa Djuric, Phedias Diamandis

Open Access Alzheimer's Disease Research

Clusterin ameliorates tau pathology in vivo by inhibiting fibril formation

Aleksandra M. Wojtas, Yari Carlomagno, Jonathon P. Sens, Silvia S. Kang, Tanner D. Jensen, Aishe Kurti, Kelsey E. Baker, Taylor J. Berry, Virginia R. Phillips, Monica Casey Castanedes, Ayesha Awan, Michael DeTure, Cristhoper H. Fernandez De Castro, Ariston L. Librero, Mei Yue, Lillian Daughrity, Karen R. Jansen-West, Casey N. Cook, Dennis W. Dickson, Leonard Petrucelli, John D. Fryer

Open Access Parkinson's Disease Research

Neuroinflammation and protein pathology in Parkinson’s disease dementia

Antonina Kouli, Marta Camacho, Kieren Allinson, Caroline H. Williams-Gray

Open Access Alzheimer's Disease Research

Collagenous Alzheimer amyloid plaque component impacts on the compaction of amyloid-β plaques

Tadafumi Hashimoto, Daisuke Fujii, Yasushi Naka, Mayu Kashiwagi-Hakozaki, Yuko Matsuo, Yusuke Matsuura, Tomoko Wakabayashi, Takeshi Iwatsubo

Open Access Alzheimer's Disease Research

Infusion of blood from mice displaying cerebral amyloidosis accelerates amyloid pathology in animal models of Alzheimer’s disease

Rodrigo Morales, Claudia Duran-Aniotz, Javiera Bravo-Alegria, Lisbell D. Estrada, Mohammad Shahnawaz, Ping-Ping Hu, Carlos Kramm, Diego Morales-Scheihing, Akihiko Urayama, Claudio Soto

Open Access Spastic Paraplegia Research

Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia

Yongchao Mou, Yi Dong, Zhenyu Chen, Kyle R. Denton, Michael O. Duff, Craig Blackstone, Su-Chun Zhang, Xue-Jun Li

Open Access Alzheimer's Disease Research

Retinal ganglion cell degeneration correlates with hippocampal spine loss in experimental Alzheimer’s disease

Ryan J. Bevan, Tim R. Hughes, Pete A. Williams, Mark A. Good, B. Paul Morgan, James E. Morgan

Open Access Alzheimer's Disease Research

Influence of APOE genotype in primary age-related tauopathy

Andrew C. Robinson, Yvonne S. Davidson, Federico Roncaroli, James Minshull, Phillip Tinkler, Michael A. Horan, Antony Payton, Neil Pendleton, David M. A. Mann

Open Access Review

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy

Jinming Han, Heela Sarlus, Zbigniew K. Wszolek, Virginija Danylaité Karrenbauer, Robert A. Harris

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

Rebecca R. Valentino, Shunsuke Koga, Ronald L. Walton, Alexandra I. Soto-Beasley, Naomi Kouri, Michael A. DeTure, Melissa E. Murray, Patrick W. Johnson, Ronald C. Petersen, Bradley F. Boeve, Ryan J. Uitti, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross, Michael G. Heckman

Open Access Glioma Research

Effects of H3.3G34V mutation on genomic H3K36 and H3K27 methylation patterns in isogenic pediatric glioma cells

Tina Yi-Ting Huang, Andrea Piunti, Jin Qi, Marc Morgan, Elizabeth Bartom, Ali Shilatifard, Amanda M. Saratsis

Open Access Parkinson's Disease Research

Isotope-reinforced polyunsaturated fatty acids improve Parkinson’s disease-like phenotype in rats overexpressing α-synuclein

M. Flint Beal, Jayandra Chiluwal, Noel Y. Calingasan, Ginger L. Milne, Mikhail S. Shchepinov, Victor Tapias

Open Access Glioblastoma Research

Characterization and oncolytic virus targeting of FAP-expressing tumor-associated pericytes in glioblastoma

Ming Li, Guoping Li, Juri Kiyokawa, Zain Tirmizi, Leland G. Richardson, Jianfang Ning, Saumya Das, Robert L. Martuza, Anat Stemmer-Rachamimov, Samuel D. Rabkin, Hiroaki Wakimoto

Open Access Alzheimer's Disease Methodology article

Label-free vibrational imaging of different Aβ plaque types in Alzheimer’s disease reveals sequential events in plaque development

Dominik Röhr, Baayla D. C. Boon, Martin Schuler, Kristin Kremer, Jeroen J. M. Hoozemans, Femke H. Bouwman, Samir F. El-Mashtoly, Andreas Nabers, Frederik Großerueschkamp, Annemieke J. M. Rozemuller, Klaus Gerwert

Open Access Central Pontine Myelinolysis Research

Lack of astrocytes hinders parenchymal oligodendrocyte precursor cells from reaching a myelinating state in osmolyte-induced demyelination

Melanie Lohrberg, Anne Winkler, Jonas Franz, Franziska van der Meer, Torben Ruhwedel, Nikoloz Sirmpilatze, Rakshit Dadarwal, Ronja Handwerker, Daniel Esser, Kerstin Wiegand, Christian Hagel, Andreas Gocht, Fatima Barbara König, Susann Boretius, Wiebke Möbius, Christine Stadelmann, Alonso Barrantes-Freer