Articles

Complement-independent bystander injury in AQP4-IgG seropositive neuromyelitis optica produced by antibody-dependent cellular cytotoxicity

Cellular injury in AQP4-IgG seropositive neuromyelitis spectrum disorder (herein called NMO) involves AQP4-IgG binding to astrocytes, resulting in astrocyte injury by complement-dependent cytotoxicity (CDC) an...

Authors: Tianjiao Duan, Alex J. Smith and Alan S. Verkman

COX2 expression is associated with proliferation and tumor extension in vestibular schwannoma but is not influenced by acetylsalicylic acid intake

Acetylsalicylic acid has been linked to a lower risk for different cancer types, presumably through its inhibitory effect on cyclooxygenase 2. This has also been investigated in vestibular schwannomas with pro...

Authors: Felix Behling, Vanessa Ries, Marco Skardelly, Irina Gepfner-Tuma, Martin Schuhmann, Florian-Heinrich Ebner, Ghazaleh Tabatabai, Antje Bornemann, Jens Schittenhelm and Marcos Tatagiba

An unusual recurrent high-grade glioneuronal tumor with MAP2K1 mutation and CDKN2A/B homozygous deletion

Authors: Barry Cheaney II, Stephen Bowden, Katie Krause, Emily A. Sloan, Arie Perry, David A. Solomon, Seunggu Jude Han and Matthew D. Wood

Intersection of pathological tau and microglia at the synapse

Tauopathies are a heterogenous class of diseases characterized by cellular accumulation of aggregated tau and include diseases such as Alzheimer’s disease (AD), progressive supranuclear palsy and chronic traum...

Authors: Thomas Vogels, Adriana-Natalia Murgoci and Tomáš Hromádka

Nanomedicine-driven neuropathic pain relief in a rat model is associated with macrophage polarity and mast cell activation

We explored the immune neuropathology underlying multi-day relief from neuropathic pain in a rat model initiated at the sciatic nerve, by using a nanoemulsion-based nanomedicine as a biological probe. The nano...

Authors: Muzamil Saleem, Brooke Deal, Emily Nehl, Jelena M. Janjic and John A. Pollock

Restoration of histone acetylation ameliorates disease and metabolic abnormalities in a FUS mouse model

Dysregulation of epigenetic mechanisms is emerging as a central event in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS). In many models of neurodegeneration, global histone acetylat...

Authors: Elisabeth Rossaert, Eveliina Pollari, Tom Jaspers, Lawrence Van Helleputte, Matthew Jarpe, Philip Van Damme, Katrien De Bock, Matthieu Moisse and Ludo Van Den Bosch

Loss of USP18 in microglia induces white matter pathology

Authors: Marius Schwabenland, Omar Mossad, Adam G. Peres, Franziska Kessler, Feres Jose Mocayar Maron, Laura-Adela Harsan, Thomas Bienert, Dominik von Elverfeldt, Klaus-Peter Knobeloch, Ori Staszewski, Frank L. Heppner, Marije E. C. Meuwissen, Grazia M. S. Mancini, Marco Prinz and Thomas Blank

Alzheimer’s disease frequency peaks in the tenth decade and is lower afterwards

Age is the most robust risk factor for Alzheimer’s dementia, however there is little data on the relation of age to Alzheimer’s disease (AD) and other common neuropathologies that contribute to Alzheimer’s dem...

Authors: Jose M. Farfel, Lei Yu, Patricia A. Boyle, Sue Leurgans, Raj C. Shah, Julie A. Schneider and David A. Bennett

Response to the Letter from Garcia-Montojo and colleagues concerning our paper entitled, Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis

Authors: Jeremy A. Garson, Louise Usher, Ammar Al-Chalabi, Jim Huggett, Edmund F. Day and Adele L. McCormick

Technical considerations in detection of HERV-K in amyotrophic lateral sclerosis: selection of controls and the perils of qPCR

Authors: Marta Garcia-Montojo, Wenxue Li and Avindra Nath

C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation

The transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein involved in RNA splicing. Abnormally deposited TDP-43 is found in the brains of patients with frontotemporal lobar deg...

Authors: Keith A. Josephs, Yong-Jie Zhang, Matthew Baker, Rosa Rademakers, Leonard Petrucelli and Dennis W. Dickson

Chronic traumatic encephalopathy in two former Australian National Rugby League players

Authors: Michael E. Buckland, Joanne Sy, Istvan Szentmariay, Alexandra Kullen, Maggie Lee, Antony Harding, Glenda Halliday and Catherine M. Suter

Distribution differences in prognostic copy number alteration profiles in IDH-wild-type glioblastoma cause survival discrepancies across cohorts

The diagnosis and prognostication of glioblastoma (GBM) remain to be solely dependent on histopathological findings and few molecular markers, despite the clinical heterogeneity in this entity. To address this...

Authors: Toru Umehara, Hideyuki Arita, Ema Yoshioka, Tomoko Shofuda, Daisuke Kanematsu, Manabu Kinoshita, Yoshinori Kodama, Masayuki Mano, Naoki Kagawa, Yasunori Fujimoto, Yoshiko Okita, Masahiro Nonaka, Kosuke Nakajo, Takehiro Uda, Naohiro Tsuyuguchi, Junya Fukai…

Sporadic Creutzfeldt-Jakob disease prion infection of human cerebral organoids

For the transmissible, neurogenerative family of prion diseases, few human models of infection exist and none represent structured neuronal tissue. Human cerebral organoids are self-organizing, three-dimension...

Authors: Bradley R. Groveman, Simote T. Foliaki, Christina D. Orru, Gianluigi Zanusso, James A. Carroll, Brent Race and Cathryn L. Haigh

Intrathecal delivery of recombinant AAV1 encoding hepatocyte growth factor improves motor functions and protects neuromuscular system in the nerve crush and SOD1-G93A transgenic mouse models

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease resulting from motor neuron degeneration that causes muscle weakness, paralysis, and eventually respiratory failure. We investigated whether...

Authors: Sang Hwan Lee, Subin Kim, Nayeon Lee, Junghun Lee, Seung Shin Yu, Jin Hong Kim and Sunyoung Kim

In vivo real-time dynamics of ATP and ROS production in axonal mitochondria show decoupling in mouse models of peripheral neuropathies

Mitochondria are critical for the function and maintenance of myelinated axons notably through Adenosine triphosphate (ATP) production. A direct by-product of this ATP production is reactive oxygen species (RO...

Authors: Gerben van Hameren, Graham Campbell, Marie Deck, Jade Berthelot, Benoit Gautier, Patrice Quintana, Roman Chrast and Nicolas Tricaud

Neutrophil extracellular trap induced by HMGB1 exacerbates damages in the ischemic brain

It has been reported that neutrophil extracellular traps (NETs) play important roles in non-infectious diseases. In ischemic stroke, neutrophils infiltrate damaged brain tissue soon after injury and aggravate ...

Authors: Seung-Woo Kim, Hahnbie Lee, Hye-Kyung Lee, Il-Doo Kim and Ja-Kyeong Lee

Total copy number variation as a prognostic factor in adult astrocytoma subtypes

Since the discovery that IDH1/2 mutations confer a significantly better prognosis in astrocytomas, much work has been done to identify other molecular signatures to help further stratify lower-grade astrocytomas ...

Authors: Kanish Mirchia, Adwait Amod Sathe, Jamie M. Walker, Yelena Fudym, Kristyn Galbraith, Mariano S. Viapiano, Robert J. Corona, Matija Snuderl, Chao Xing, Kimmo J. Hatanpaa and Timothy E. Richardson

An integrative radiological, histopathological and molecular analysis of pediatric pontine histone-wildtype glioma with MYCN amplification (HGG-MYCN)

Authors: A. Tauziède-Espariat, M-A Debily, D. Castel, J. Grill, S. Puget, M. Sabel, K. Blomgren, A. Gareton, V. Dangouloff-Ros, E. Lechapt, N. Boddaert and P. Varlet

Resistance and resilience to Alzheimer’s disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort

Alzheimer’s disease neuropathologic change (ADNC) is defined by progressive accumulation of β-amyloid plaques and hyperphosphorylated tau (pTau) neurofibrillary tangles across diverse regions of brain. Non-dem...

Authors: Caitlin S. Latimer, Bridget T. Burke, Nicole F. Liachko, Heather N. Currey, Mitchell D. Kilgore, Laura E. Gibbons, Jonathan Henriksen, Martin Darvas, Kimiko Domoto-Reilly, Suman Jayadev, Tom J. Grabowski, Paul K. Crane, Eric B. Larson, Brian C. Kraemer, Thomas D. Bird and C. Dirk Keene

Predictive MGMT status in a homogeneous cohort of IDH wildtype glioblastoma patients

Methylation of the O(6)-Methylguanine-DNA methyltransferase (MGMT) promoter is predictive for treatment response in glioblastoma patients. However, precise predictive cutoff values to distinguish “MGMT methylated...

Authors: Josefine Radke, Arend Koch, Fabienne Pritsch, Elisa Schumann, Martin Misch, Claudia Hempt, Klaus Lenz, Franziska Löbel, Fabienne Paschereit, Frank L. Heppner, Peter Vajkoczy, Randi Koll and Julia Onken

High-throughput microscopy exposes a pharmacological window in which dual leucine zipper kinase inhibition preserves neuronal network connectivity

Therapeutic developments for neurodegenerative disorders are redirecting their focus to the mechanisms that contribute to neuronal connectivity and the loss thereof. Using a high-throughput microscopy pipeline...

Authors: Marlies Verschuuren, Peter Verstraelen, Gerardo García-Díaz Barriga, Ines Cilissen, Emma Coninx, Mieke Verslegers, Peter H. Larsen, Rony Nuydens and Winnok H. De Vos

Integrative analysis of DNA methylation suggests down-regulation of oncogenic pathways and reduced somatic mutation rates in survival outliers of glioblastoma

The study of survival outliers of glioblastoma can provide important clues on gliomagenesis as well as on the ways to alter clinical course of this almost uniformly lethal cancer type. However, there has been ...

Authors: Taeyoung Hwang, Dimitrios Mathios, Kerrie L. McDonald, Irene Daris, Sung-Hye Park, Peter C. Burger, Sojin Kim, Yun-Sik Dho, Hruban Carolyn, Chetan Bettegowda, Joo Heon Shin, Michael Lim and Chul-Kee Park

Transcriptome and proteome profiling of neural stem cells from the human subventricular zone in Parkinson’s disease

It is currently accepted that the human brain has a limited neurogenic capacity and an impaired regenerative potential. We have previously shown the existence of CD271-expressing neural stem cells (NSCs) in th...

Authors: Vanessa Donega, Saskia M. Burm, Miriam E. van Strien, Emma J. van Bodegraven, Iryna Paliukhovich, Hanneke Geut, Wilma D. J. van de Berg, Ka Wan Li, August B. Smit, Onur Basak and Elly M. Hol

Alzheimer’s disease neuropathological change and loss of matrix/neuropil in patients with idiopathic Normal Pressure Hydrocephalus, a model of Alzheimer’s disease

Here, we assessed unique brain tissue samples, obtained from living subjects with idiopathic Normal Pressure Hydrocephalus (iNPH). Our cohort of 95 subjects with age ranging from 75 to 79 years, displayed a hi...

Authors: Sylwia Libard and Irina Alafuzoff

c-MYC overexpression induces choroid plexus papillomas through a T-cell mediated inflammatory mechanism

Choroid plexus tumours (CPTs) account for 2–5% of brain tumours in children. They can spread along the neuraxis and can recur after treatment. Little is known about the molecular mechanisms underlying their fo...

Authors: Ashirwad Merve, Xinyu Zhang, Nicola Pomella, Serena Acquati, Joerg D. Hoeck, Anaelle Dumas, Gabriel Rosser, Yichen Li, Jennie Jeyapalan, Silvia Vicenzi, Qianhai Fan, Zeng Jie Yang, Arianna Sabò, Denise Sheer, Axel Behrens and Silvia Marino

Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments

Despite their phenotypic heterogeneity, most human prion diseases belong to two broadly defined groups: Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker disease (GSS). While the structural ch...

Authors: Laura Cracco, Xiangzhu Xiao, Satish K. Nemani, Jody Lavrich, Ignazio Cali, Bernardino Ghetti, Silvio Notari, Witold K. Surewicz and Pierluigi Gambetti

Complement 3⁺-astrocytes are highly abundant in prion diseases, but their abolishment led to an accelerated disease course and early dysregulation of microglia

Astrogliosis and activation of microglia are hallmarks of prion diseases in humans and animals. Both were viewed to be rather independent events in disease pathophysiology, with proinflammatory microglia consi...

Authors: Kristin Hartmann, Diego Sepulveda-Falla, Indigo V. L. Rose, Charlotte Madore, Christiane Muth, Jakob Matschke, Oleg Butovsky, Shane Liddelow, Markus Glatzel and Susanne Krasemann

APOE genotype and sex affect microglial interactions with plaques in Alzheimer’s disease mice

Microglia affect Alzheimer’s disease (AD) pathogenesis in opposing manners, by protecting against amyloid accumulation in early phases of the disease and promoting neuropathology in advanced stages. Recent res...

Authors: T. L. Stephen, M. Cacciottolo, D. Balu, T. E. Morgan, M. J. LaDu, C. E. Finch and C. J. Pike

Replication of multiple system atrophy prions in primary astrocyte cultures from transgenic mice expressing human α-synuclein

Glial cytoplasmic inclusions (GCIs) containing aggregated and hyperphosphorylated α-synuclein are the signature neuropathological hallmark of multiple system atrophy (MSA). Native α-synuclein can adopt a prion...

Authors: Zuzana Krejciova, George A. Carlson, Kurt Giles and Stanley B. Prusiner

Comparative analyses of the in vivo induction and transmission of α-synuclein pathology in transgenic mice by MSA brain lysate and recombinant α-synuclein fibrils

α-synuclein (αS) is the major component of several types of brain pathological inclusions that define neurodegenerative diseases termed synucleinopathies. Central nervous system (CNS) inoculation studies using...

Authors: Jess-Karan S. Dhillon, Jorge A. Trejo-Lopez, Cara Riffe, Yona Levites, Amanda N. Sacino, David R. Borchelt, Anthony Y. Yachnis and Benoit I. Giasson

Endogenous mouse huntingtin is highly abundant in cranial nerve nuclei, co-aggregates to Abeta plaques and is induced in reactive astrocytes in a transgenic mouse model of Alzheimer’s disease

Pathogenic variants of the huntingtin (HTT) protein and their aggregation have been investigated in great detail in brains of Huntington’s disease patients and HTT-transgenic animals. However, little is known ...

Authors: Maike Hartlage-Rübsamen, Veronika Ratz, Ulrike Zeitschel, Lukas Finzel, Lisa Machner, Janett Köppen, Anja Schulze, Hans-Ulrich Demuth, Stephan von Hörsten, Corinna Höfling and Steffen Roßner

H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components

The recently described malignant neuro-epithelial tumors with histone H3F3A point mutations at G34 (NET-H3-G34) occur most often in cerebral hemispheres of teenagers and young adults, and have a generally adverse...

Authors: Felipe Andreiuolo, Tomo Lisner, Jozef Zlocha, Christof Kramm, Arend Koch, Brigitte Bison, Albane Gareton, Marc Zanello, Andreas Waha, Pascale Varlet and Torsten Pietsch

Early neuronal accumulation of DNA double strand breaks in Alzheimer’s disease

The maintenance of genomic integrity is essential for normal cellular functions. However, it is difficult to maintain over a lifetime in postmitotic cells such as neurons, in which DNA damage increases with ag...

Authors: Niraj M. Shanbhag, Mark D. Evans, Wenjie Mao, Alissa L. Nana, William W. Seeley, Anthony Adame, Robert A. Rissman, Eliezer Masliah and Lennart Mucke

Identification of patient-derived glioblastoma stem cell (GSC) lines with the alternative lengthening of telomeres phenotype

Authors: Ahsan Farooqi, Jie Yang, Vladislav Sharin, Ravesanker Ezhilarasan, Carla Danussi, Christian Alvarez, Sharvari Dharmaiah, David Irvin, Jason Huse and Erik P. Sulman

Tenascin-C expression contributes to pediatric brainstem glioma tumor phenotype and represents a novel biomarker of disease

Diffuse intrinsic pontine glioma (DIPG), an infiltrative, high grade glioma (HGG) affecting young children, has the highest mortality rate of all pediatric cancers. Despite treatment, average survival is less ...

Authors: J. Qi, D. R. Esfahani, T. Huang, P. Ozark, E. Bartom, R. Hashizume, E. R. Bonner, S. An, C. M. Horbinski, C. D. James and A. M. Saratsis

Aquaporin-4 reduces neuropathology in a mouse model of Alzheimer’s disease by remodeling peri-plaque astrocyte structure

Redistribution of the water channel aquaporin-4 (AQP4) away from astrocyte endfeet and into parenchymal processes is a striking histological feature in mouse models of Alzheimer’s disease (AD) and other neurol...

Authors: Alex J. Smith, Tianjiao Duan and Alan S. Verkman

LMTK2 binds to kinesin light chains to mediate anterograde axonal transport of cdk5/p35 and LMTK2 levels are reduced in Alzheimer’s disease brains

Cyclin dependent kinase-5 (cdk5)/p35 is a neuronal kinase that regulates key axonal and synaptic functions but the mechanisms by which it is transported to these locations are unknown. Lemur tyrosine kinase-2 ...

Authors: Gábor M. Mórotz, Elizabeth B. Glennon, Patricia Gomez-Suaga, Dawn H. W. Lau, Eleanor D. Robinson, Éva Sedlák, Alessio Vagnoni, Wendy Noble and Christopher C. J. Miller

Cerebrospinal fluid from Alzheimer’s disease patients promotes tau aggregation in transgenic mice

Tau is a microtubule stabilizing protein that forms aggregates in Alzheimer’s disease (AD). Tau derived from AD patients’ brains induces tau aggregation in a prion-like manner when injected into susceptible mo...

Authors: Zhiva Skachokova, Alfonso Martinisi, Martin Flach, Frederik Sprenger, Yvonne Naegelin, Viviane Steiner-Monard, Marc Sollberger, Andreas U. Monsch, Michel Goedert, Markus Tolnay and David T. Winkler

How to demix Alzheimer-type and PSP-type tau lesions out of their mixture -hybrid approach to dissect comorbidity-

Neurofibrillary tangles (NFTs), are shared between progressive supranuclear palsy (PSP) and Alzheimer disease (AD). Histological distinction of PSP and AD is possible based on the distribution of NFTs. However...

Authors: Momoko Ebashi, Yoshinori Ito, Miho Uematsu, Ayako Nakamura, Katsuiku Hirokawa, Satoshi Kamei and Toshiki Uchihara

Iatrogenic early onset cerebral amyloid angiopathy 30 years after cerebral trauma with neurosurgery: vascular amyloid deposits are made up of both Aβ40 and Aβ42

Authors: Giorgio Giaccone, Emanuela Maderna, Gianluca Marucci, Marcella Catania, Alessandra Erbetta, Luisa Chiapparini, Antonio Indaco, Paola Caroppo, Anna Bersano, Eugenio Parati, Giuseppe Di Fede and Luigi Caputi

Histologic, immunohistochemical, and molecular features of pituicytomas and atypical pituicytomas

Pituicytoma is a rare, poorly characterized tumor of the sellar region that is thought to be derived from neurohypophyseal pituicytes. Resection of pituicytomas is often associated with significant morbidity i...

Authors: Angela N. Viaene, Edward B. Lee, Jason N. Rosenbaum, Ilya M. Nasrallah and MacLean P. Nasrallah

Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes

Accumulating evidence indicates that endoplasmic reticulum (ER) stress is a common feature of Parkinson’s disease (PD) and further suggests that several PD-related genes are responsible for ER dysfunction. How...

Authors: Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe and Ilo Jou

Transcriptome signatures associated with meningioma progression

Meningiomas are the most common primary brain tumor of adults. The majority are benign (WHO grade I), with a mostly indolent course; 20% of them (WHO grade II and III) are, however, considered aggressive and r...

Authors: Angela N. Viaene, Bo Zhang, Maria Martinez-Lage, Chaomei Xiang, Umberto Tosi, Jayesh P. Thawani, Busra Gungor, Yuankun Zhu, Laura Roccograndi, Logan Zhang, Robert L. Bailey, Phillip B. Storm, Donald M. O’Rourke, Adam C. Resnick, M. Sean Grady and Nadia Dahmane

PIK3CA activating mutations are associated with more disseminated disease at presentation and earlier recurrence in glioblastoma

Phosphatidylinositol 3-kinase signaling promotes cell growth and survival and is frequently activated in infiltrative gliomas. Activating mutations in PIK3CA gene are observed in 6–15% of glioblastomas, although ...

Authors: Shota Tanaka, Tracy T. Batchelor, A. John Iafrate, Dora Dias-Santagata, Darrell R. Borger, Leif W. Ellisen, Daniel Yang, David N. Louis, Daniel P. Cahill and Andrew S. Chi

Drosophila Ref1/ALYREF regulates transcription and toxicity associated with ALS/FTD disease etiologies

RNA-binding proteins (RBPs) are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the underlying disease mechanisms remain unclear. In an unbiased screen in Drosophila for...

Authors: Amit Berson, Lindsey D. Goodman, Ashley N. Sartoris, Charlton G. Otte, James A. Aykit, Virginia M.-Y. Lee, John Q. Trojanowski and Nancy M. Bonini

Delta-24-RGD combined with radiotherapy exerts a potent antitumor effect in diffuse intrinsic pontine glioma and pediatric high grade glioma models

Pediatric high grade gliomas (pHGG), including diffuse intrinsic pontine gliomas (DIPGs), are aggressive tumors with a dismal outcome. Radiotherapy (RT) is part of the standard of care of these tumors; however...

Authors: Naiara Martinez-Velez, Miguel Marigil, Marc García-Moure, Marisol Gonzalez-Huarriz, Jose Javier Aristu, Luis-Isaac Ramos-García, Sonia Tejada, Ricardo Díez-Valle, Ana Patiño-García, Oren J. Becher, Candelaria Gomez-Manzano, Juan Fueyo and Marta M. Alonso

Coexisting FGFR3 p.K650T mutation in two FGFR3-TACC3 fusion glioma cases

Authors: Leomar Y. Ballester, Soheil Zorofchian Moghadamtousi, Norman E. Leeds, Jason T. Huse and Gregory N. Fuller

DNA methylation, transcriptome and genetic copy number signatures of diffuse cerebral WHO grade II/III gliomas resolve cancer heterogeneity and development

Diffuse lower WHO grade II and III gliomas (LGG) are slowly progressing brain tumors, many of which eventually transform into a more aggressive type. LGG is characterized by widespread genetic and transcriptio...

Authors: H. Binder, E. Willscher, H. Loeffler-Wirth, L. Hopp, D. T. W. Jones, S. M. Pfister, M. Kreuz, D. Gramatzki, E. Fortenbacher, B. Hentschel, M. Tatagiba, U. Herrlinger, H. Vatter, J. Matschke, M. Westphal, D. Krex…

RETRACTED ARTICLE: Unique RNA signature of different lesion types in the brain white matter in progressive multiple sclerosis

The heterogeneity of multiple sclerosis is reflected by dynamic changes of different lesion types in the brain white matter (WM). To identify potential drivers of this process, we RNA-sequenced 73 WM areas fro...

Authors: Maria L. Elkjaer, Tobias Frisch, Richard Reynolds, Tim Kacprowski, Mark Burton, Torben A. Kruse, Mads Thomassen, Jan Baumbach and Zsolt Illes