Articles

Two distinct conformers of PrP^D type 1 of sporadic Creutzfeldt–Jakob disease with codon 129VV genotype faithfully propagate in vivo

Current classifications of sporadic Creutzfeldt–Jakob disease (sCJD) identify five subtypes associated with different disease phenotypes. Most of these histopathological phenotypes (histotypes) co-distribute w...

Authors: Ignazio Cali, Juan Carlos Espinosa, Satish K. Nemani, Alba Marin-Moreno, Manuel V. Camacho, Rabail Aslam, Tetsuyuki Kitamoto, Brian S. Appleby, Juan Maria Torres and Pierluigi Gambetti

Macrophages and microglia: the cerberus of glioblastoma

Glioblastoma (GBM) is the most aggressive and deadliest of the primary brain tumors, characterized by malignant growth, invasion into the brain parenchyma, and resistance to therapy. GBM is a heterogeneous dis...

Authors: Alice Buonfiglioli and Dolores Hambardzumyan

Chronically altered NMDAR signaling in epilepsy mediates comorbid depression

Depression is the most common psychiatric comorbidity of epilepsy. However, the molecular pathways underlying this association remain unclear. The NMDA receptor (NMDAR) may play a role in this association, as ...

Authors: Mohammad Amin Sadeghi, Sara Hemmati, Sina Mohammadi, Hasan Yousefi-Manesh, Ali Vafaei, Meysam Zare and Ahmad Reza Dehpour

TDP-43 proteinopathy alters the ribosome association of multiple mRNAs including the glypican Dally-like protein (Dlp)/GPC6

Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative disease in which 97% of patients exhibit cytoplasmic aggregates containing the RNA binding protein TDP-43. Using tagged ribo...

Authors: Erik M. Lehmkuhl, Suvithanandhini Loganathan, Eric Alsop, Alexander D. Blythe, Tina Kovalik, Nicholas P. Mortimore, Dianne Barrameda, Chuol Kueth, Randall J. Eck, Bhavani B. Siddegowda, Archi Joardar, Hannah Ball, Maria E. Macias, Robert Bowser, Kendall Van Keuren-Jensen and Daniela C. Zarnescu

Early alterations of neurovascular unit in the retina in mouse models of tauopathy

The retina, as the only visually accessible tissue in the central nervous system, has attracted significant attention for evaluating it as a biomarker for neurodegenerative diseases. Yet, most of studies focus...

Authors: Fan Xia, Yonju Ha, Shuizhen Shi, Yi Li, Shengguo Li, Jonathan Luisi, Rakez Kayed, Massoud Motamedi, Hua Liu and Wenbo Zhang

Perspective of mesenchymal transformation in glioblastoma

Despite aggressive multimodal treatment, glioblastoma (GBM), a grade IV primary brain tumor, still portends a poor prognosis with a median overall survival of 12–16 months. The complexity of GBM treatment main...

Authors: Yona Kim, Frederick S. Varn, Sung-Hye Park, Byung Woo Yoon, Hye Ran Park, Charles Lee, Roel G. W. Verhaak and Sun Ha Paek

Space-occupying brain lesions, trauma-related tau astrogliopathy, and ARTAG: a report of two cases and a literature review

Astrocytes with intracellular accumulations of misfolded phosphorylated tau protein have been observed in advanced-stage chronic traumatic encephalopathy (CTE) and in other neurodegenerative conditions. There ...

Authors: Adam D. Bachstetter, Filip G. Garrett, Gregory A. Jicha and Peter T. Nelson

Coping with brain amyloid: genetic heterogeneity and cognitive resilience to Alzheimer’s pathophysiology

Although abnormal accumulation of amyloid in the brain is an early biomarker of Alzheimer’s disease (AD), wide variation in cognitive trajectories during life can be seen in the setting of brain amyloidosis, r...

Authors: Vijay K. Ramanan, Timothy G. Lesnick, Scott A. Przybelski, Michael G. Heckman, David S. Knopman, Jonathan Graff-Radford, Val J. Lowe, Mary M. Machulda, Michelle M. Mielke, Clifford R. Jack Jr., Ronald C. Petersen, Owen A. Ross and Prashanthi Vemuri

Cell specific quantitative iron mapping on brain slices by immuno-µPIXE in healthy elderly and Parkinson’s disease

Iron is essential for neurons and glial cells, playing key roles in neurotransmitter synthesis, energy production and myelination. In contrast, high concentrations of free iron can be detrimental and contribut...

Authors: I. Friedrich, K. Reimann, S. Jankuhn, E. Kirilina, J. Stieler, M. Sonntag, J. Meijer, N. Weiskopf, T. Reinert, T. Arendt and M. Morawski

Accumulation of alpha-synuclein within the liver, potential role in the clearance of brain pathology associated with Parkinson’s disease

Alpha-synuclein (α-syn) aggregation is the hallmark pathological lesion in brains of patients with Parkinson’s disease (PD) and related neurological disorders characterized as synucleinopathies. Accumulating e...

Authors: Juan F. Reyes, Sara Ekmark-Léwen, Marina Perdiki, Therése Klingstedt, Alana Hoffmann, Emilia Wiechec, Per Nilsson, K. Peter R. Nilsson, Irina Alafuzoff, Martin Ingelsson and Martin Hallbeck

Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD

The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene. While direct molecular hallmarks of the C9orf72...

Authors: Alyssa N. Coyne and Jeffrey D. Rothstein

Astrocytes respond to a neurotoxic Aβ fragment with state-dependent Ca²⁺ alteration and multiphasic transmitter release

Excessive amounts of amyloid β (Aβ) peptide have been suggested to dysregulate synaptic transmission in Alzheimer’s disease (AD). As a major type of glial cell in the mammalian brain, astrocytes regulate neuro...

Authors: Cuong Pham, Karine Hérault, Martin Oheim, Steeve Maldera, Vincent Vialou, Bruno Cauli and Dongdong Li

Expression of an alternatively spliced variant of SORL1 in neuronal dendrites is decreased in patients with Alzheimer’s disease

SORL1 is strongly associated with both sporadic and familial forms of Alzheimer’s disease (AD), but a lack of information about alternatively spliced transcripts currently limits our understanding of the role of

Authors: Giulia Monti, Mads Kjolby, Anne Mette G. Jensen, Mariet Allen, Juliane Reiche, Peter L. Møller, Raquel Comaposada-Baró, Bartlomiej E. Zolkowski, Cármen Vieira, Margarita Melnikova Jørgensen, Ida E. Holm, Paul N. Valdmanis, Niels Wellner, Christian B. Vægter, Sarah J. Lincoln, Anders Nykjær…

Tau antibody isotype induces differential effects following passive immunisation of tau transgenic mice

One of the main pathological hallmarks of Alzheimer’s disease (AD) is the intraneuronal accumulation of hyperphosphorylated tau. Passive immunotherapy is a promising strategy for the treatment of AD and there ...

Authors: Rinie Bajracharya, David Brici, Liviu-Gabriel Bodea, Phillip W. Janowicz, Jürgen Götz and Rebecca M. Nisbet

Tau assemblies do not behave like independently acting prion-like particles in mouse neural tissue

A fundamental property of infectious agents is their particulate nature: infectivity arises from independently-acting particles rather than as a result of collective action. Assemblies of the protein tau can e...

Authors: Lauren V. C. Miller, Aamir S. Mukadam, Claire S. Durrant, Marina J. Vaysburd, Taxiarchis Katsinelos, Benjamin J. Tuck, Sophie Sanford, Olivia Sheppard, Claire Knox, Shi Cheng, Leo C. James, Michael P. Coleman and William A. McEwan

Gut microbial dysbiosis after traumatic brain injury modulates the immune response and impairs neurogenesis

The influence of the gut microbiota on traumatic brain injury (TBI) is presently unknown. This knowledge gap is of paramount clinical significance as TBI patients are highly susceptible to alterations in the g...

Authors: Marta Celorrio, Miguel A. Abellanas, James Rhodes, Victoria Goodwin, Jennie Moritz, Sangeetha Vadivelu, Leran Wang, Rachel Rodgers, Sophia Xiao, Ilakkia Anabayan, Camryn Payne, Alexandra M. Perry, Megan T. Baldridge, Maria S. Aymerich, Ashley Steed and Stuart H. Friess

Prolonged activation of cytomegalovirus early gene e1-promoter exclusively in neurons during infection of the developing cerebrum

The brain is the major target of congenital cytomegalovirus (CMV) infection. It is possible that neuron disorder in the developing brain is a critical factor in the development of neuropsychiatric diseases in ...

Authors: Isao Kosugi, Yoshifumi Arai, Satoshi Baba, Hideya Kawasaki, Toshihide Iwashita and Yoshihiro Tsutsui

Systemic delivery of a specific antibody targeting the pathological N-terminal truncated tau peptide reduces retinal degeneration in a mouse model of Alzheimer’s Disease

Retina and optic nerve are sites of extra-cerebral manifestations of Alzheimer’s Disease (AD). Amyloid-β (Aβ) plaques and neurofibrillary tangles of hyperphosphorylated tau protein are detected in eyes from AD...

Authors: Valentina Latina, Giacomo Giacovazzo, Federica Cordella, Bijorn Omar Balzamino, Alessandra Micera, Monica Varano, Cristina Marchetti, Francesca Malerba, Rita Florio, Bruno Bruni Ercole, Federico La Regina, Anna Atlante, Roberto Coccurello, Silvia Di Angelantonio, Pietro Calissano and Giuseppina Amadoro

Reduced erythrocytic CHCHD2 mRNA is associated with brain pathology of Parkinson’s disease

Peripheral biomarkers indicative of brain pathology are critically needed for early detection of Parkinson’s disease (PD). In this study, using NanoString and digital PCR technologies, we began by screening fo...

Authors: Xiaodan Liu, Qilong Wang, Ying Yang, Tessandra Stewart, Min Shi, David Soltys, Genliang Liu, Eric Thorland, Eugene M. Cilento, Yiran Hou, Zongran Liu, Tao Feng and Jing Zhang

C11orf95-RELA fusion drives aberrant gene expression through the unique epigenetic regulation for ependymoma formation

Recurrent C11orf95-RELA fusions (RELA^FUS) are the hallmark of supratentorial ependymomas. The presence of RELA as the fusion partner indicates a close association of aberrant NF-κB activity with tumorigenesis. Ho...

Authors: Tatsuya Ozawa, Syuzo Kaneko, Frank Szulzewsky, Zhiwei Qiao, Mutsumi Takadera, Yoshitaka Narita, Tadashi Kondo, Eric C. Holland, Ryuji Hamamoto and Koichi Ichimura

The number of methylated CpG sites within the MGMT promoter region linearly correlates with outcome in glioblastoma receiving alkylating agents

MGMT-promoter methylation is associated with favorable outcome in glioblastoma. The aim of this study was to determine whether the absolute number of methylated Cytosine-Guanine-dinucleotide-(CpG-)sites within th...

Authors: Sebastian Siller, Michael Lauseker, Philipp Karschnia, Maximilian Niyazi, Sabina Eigenbrod, Armin Giese and Joerg-Christian Tonn

Neuronal hibernation following hippocampal demyelination

Cognitive dysfunction occurs in greater than 50% of individuals with multiple sclerosis (MS). Hippocampal demyelination is a prominent feature of postmortem MS brains and hippocampal atrophy correlates with co...

Authors: Selva Baltan, Safdar S. Jawaid, Anthony M. Chomyk, Grahame J. Kidd, Jacqueline Chen, Harsha D. Battapady, Ricky Chan, Ranjan Dutta and Bruce D. Trapp

Laterality and region-specific tau phosphorylation correlate with PTSD-related behavioral traits in rats exposed to repetitive low-level blast

Military veterans who experience blast-related traumatic brain injuries often suffer from chronic cognitive and neurobehavioral syndromes. Reports of abnormal tau processing following blast injury have raised ...

Authors: Georgina Perez Garcia, Rita De Gasperi, Miguel A. Gama Sosa, Gissel M. Perez, Alena Otero-Pagan, Dylan Pryor, Rania Abutarboush, Usmah Kawoos, Patrick R. Hof, Dara L. Dickstein, David G. Cook, Sam Gandy, Stephen T. Ahlers and Gregory A. Elder

COllaborative Neuropathology NEtwork Characterizing ouTcomes of TBI (CONNECT-TBI)

Efforts to characterize the late effects of traumatic brain injury (TBI) have been in progress for some time. In recent years much of this activity has been directed towards reporting of chronic traumatic ence...

Authors: Douglas H. Smith, Jean-Pierre Dollé, Kamar E. Ameen-Ali, Abigail Bretzin, Etty Cortes, John F. Crary, Kristen Dams-O’Connor, Ramon Diaz-Arrastia, Brian L. Edlow, Rebecca Folkerth, Lili-Naz Hazrati, Sidney R. Hinds, Diego Iacono, Victoria E. Johnson, C. Dirk Keene, Julia Kofler…

Trans-synaptic spreading of alpha-synuclein pathology through sensory afferents leads to sensory nerve degeneration and neuropathic pain

Pain is a common non-motor symptom of Parkinson’s disease (PD), with current limited knowledge of its pathophysiology. Here, we show that peripheral inoculation of mouse alpha-synuclein (α-Syn) pre-formed fibr...

Authors: Nelson Ferreira, Nádia Pereira Gonçalves, Asad Jan, Nanna Møller Jensen, Amelia van der Laan, Simin Mohseni, Christian Bjerggaard Vægter and Poul Henning Jensen

Frontotemporal lobar degeneration proteinopathies have disparate microscopic patterns of white and grey matter pathology

Frontotemporal lobar degeneration proteinopathies with tau inclusions (FTLD-Tau) or TDP-43 inclusions (FTLD-TDP) are associated with clinically similar phenotypes. However, these disparate proteinopathies like...

Authors: Lucia A. A. Giannini, Claire Peterson, Daniel Ohm, Sharon X. Xie, Corey T. McMillan, Katya Raskovsky, Lauren Massimo, EunRah Suh, Vivianna M. Van Deerlin, David A. Wolk, John Q. Trojanowski, Edward B. Lee, Murray Grossman and David J. Irwin

Differentiated glioblastoma cells accelerate tumor progression by shaping the tumor microenvironment via CCN1-mediated macrophage infiltration

Glioblastoma (GBM) is the most lethal primary brain tumor characterized by significant cellular heterogeneity, namely tumor cells, including GBM stem-like cells (GSCs) and differentiated GBM cells (DGCs), and ...

Authors: Atsuhito Uneda, Kazuhiko Kurozumi, Atsushi Fujimura, Kentaro Fujii, Joji Ishida, Yosuke Shimazu, Yoshihiro Otani, Yusuke Tomita, Yasuhiko Hattori, Yuji Matsumoto, Nobushige Tsuboi, Keigo Makino, Shuichiro Hirano, Atsunori Kamiya and Isao Date

Alzheimer’s disease brain contains tau fractions with differential prion-like activities

Neurofibrillary tangles (NFTs) made of abnormally hyperphosphorylated tau are a hallmark of Alzheimer’s disease (AD) and related tauopathies. Regional distribution of NFTs is associated with the progression of...

Authors: Longfei Li, Ruirui Shi, Jianlan Gu, Yunn Chyn Tung, Yan Zhou, Dingwei Zhou, Ruozhen Wu, Dandan Chu, Nana Jin, Kevin Deng, Jiawei Xu, Cheng-Xin Gong, Khalid Iqbal and Fei Liu

Iron loading is a prominent feature of activated microglia in Alzheimer’s disease patients

Brain iron accumulation has been found to accelerate disease progression in amyloid-β(Aβ) positive Alzheimer patients, though the mechanism is still unknown. Microglia have been identified as key players in th...

Authors: Boyd Kenkhuis, Antonios Somarakis, Lorraine de Haan, Oleh Dzyubachyk, Marieke E. IJsselsteijn, Noel F. C. C. de Miranda, Boudewijn P. F. Lelieveldt, Jouke Dijkstra, Willeke M. C. van Roon-Mom, Thomas Höllt and Louise van der Weerd

Nucleolar stress in C9orf72 and sporadic ALS spinal motor neurons precedes TDP-43 mislocalization

Nucleolar stress has been implicated in the pathology and disease pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) from repeat expansions of GGGGCC in C9orf72 (C...

Authors: Olubankole Aladesuyi Arogundade, Sandra Nguyen, Ringo Leung, Danielle Wainio, Maria Rodriguez and John Ravits

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein ...

Authors: Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben, Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto Dos Santos Dias, Yannick Vermeiren, Rik Vandenberghe, Sebastiaan Engelborghs, Peter Paul De Deyn, Jean-Jacques Martin, Patrick Cras…

Three-dimensional vascular microenvironment landscape in human glioblastoma

The cellular complexity of glioblastoma microenvironments is still poorly understood. In-depth, cell-resolution tissue analyses of human material are rare but highly necessary to understand the biology of this...

Authors: George P. Cribaro, Elena Saavedra-López, Leire Romarate, Izaskun Mitxitorena, Laura R. Díaz, Paola V. Casanova, Meritxell Roig-Martínez, José M. Gallego, Ana Perez-Vallés and Carlos Barcia

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive. DNAJB6 has two known isoforms, including the nucle...

Authors: Fang-Yuan Qian, Yu-Dong Guo, Juan Zu, Jin-Hua Zhang, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhao-Hui Pan, Chun-Ming Xie, Han-Chao Gao and Zhi-Jun Zhang

Non-cell autonomous astrocyte-mediated neuronal toxicity in prion diseases

Under normal conditions, astrocytes perform a number of important physiological functions centered around neuronal support and synapse maintenance. In neurodegenerative diseases including Alzheimer’s, Parkinso...

Authors: Rajesh Kushwaha, Anshuman Sinha, Natallia Makarava, Kara Molesworth and Ilia V. Baskakov

Protein disulfide isomerase ERp57 protects early muscle denervation in experimental ALS

Amyotrophic lateral sclerosis (ALS) is a progressive fatal neurodegenerative disease that affects motoneurons. Mutations in superoxide dismutase 1 (SOD1) have been described as a causative genetic factor for A...

Authors: Pablo Rozas, Cristina Pinto, Francisca Martínez Traub, Rodrigo Díaz, Viviana Pérez, Daniela Becerra, Patricia Ojeda, Jorge Ojeda, Madison T. Wright, Jessica Mella, Lars Plate, Juan Pablo Henríquez, Claudio Hetz and Danilo B. Medinas

Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation

Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhea...

Authors: Andrey Korshunov, Konstantin Okonechnikov, Felix Schmitt-Hoffner, Marina Ryzhova, Felix Sahm, Damian Stichel, Daniel Schrimpf, David E. Reuss, Philipp Sievers, Abigail Kora Suwala, Ella Kumirova, Olga Zheludkova, Andrey Golanov, David T. W. Jones, Stefan M. Pfister, Marcel Kool…

Neuroligin-1 in brain and CSF of neurodegenerative disorders: investigation for synaptic biomarkers

Synaptic pathology is a central event in Alzheimer’s disease (AD) and other neurodegenerative conditions, and investigation of synaptic proteins can provide valuable tools to follow synaptic dysfunction and lo...

Authors: Elena Camporesi, Tammaryn Lashley, Johan Gobom, Juan Lantero-Rodriguez, Oskar Hansson, Henrik Zetterberg, Kaj Blennow and Bruno Becker

Prion-induced photoreceptor degeneration begins with misfolded prion protein accumulation in cones at two distinct sites: cilia and ribbon synapses

Accumulation of misfolded host proteins is central to neuropathogenesis of numerous human brain diseases including prion and prion-like diseases. Neurons of retina are also affected by these diseases. Previous...

Authors: James F. Striebel, Brent Race, Jacqueline M. Leung, Cindi Schwartz and Bruce Chesebro

Tau-proximity ligation assay reveals extensive previously undetected pathology prior to neurofibrillary tangles in preclinical Alzheimer’s disease

Multimerization is a key process in prion-like disorders such as Alzheimer’s disease (AD), since it is a requirement for self-templating tau and beta-amyloid amyloidogenesis. AT8-immunohistochemistry for hyper...

Authors: Nora Bengoa-Vergniory, Elisavet Velentza-Almpani, Ana Maria Silva, Connor Scott, Mariana Vargas-Caballero, Magdalena Sastre, Richard Wade-Martins and Javier Alegre-Abarrategui

Glioma cells require one-carbon metabolism to survive glutamine starvation

Cancer cells optimize nutrient utilization to supply energetic and biosynthetic pathways. This metabolic process also includes redox maintenance and epigenetic regulation through nucleic acid and protein methy...

Authors: Kazuhiro Tanaka, Takashi Sasayama, Hiroaki Nagashima, Yasuhiro Irino, Masatomo Takahashi, Yoshihiro Izumi, Takiko Uno, Naoko Satoh, Akane Kitta, Katsusuke Kyotani, Yuichi Fujita, Mitsuru Hashiguchi, Tomoaki Nakai, Masaaki Kohta, Yoichi Uozumi, Masakazu Shinohara…

Spreading of TDP-43 pathology via pyramidal tract induces ALS-like phenotypes in TDP-43 transgenic mice

Transactive response DNA-binding protein 43 kDa (TDP-43) has been identified as the major component of ubiquitinated inclusions found in patients with sporadic amyotrophic lateral sclerosis (ALS). Increasing e...

Authors: Xuebing Ding, Zhi Xiang, Chi Qin, Yongkang Chen, Haiyan Tian, Lin Meng, Danhao Xia, Han Liu, Jia Song, Jun Fu, Mingming Ma and Xuejing Wang

A pilot radiogenomic study of DIPG reveals distinct subgroups with unique clinical trajectories and therapeutic targets

An adequate understanding of the relationships between radiographic and genomic features in diffuse intrinsic pontine glioma (DIPG) is essential, especially in the absence of universal biopsy, to further chara...

Authors: Xiaoting Zhu, Margot A. Lazow, Austin Schafer, Allison Bartlett, Shiva Senthil Kumar, Deepak Kumar Mishra, Phillip Dexheimer, Mariko DeWire, Christine Fuller, James L. Leach, Maryam Fouladi and Rachid Drissi

14-3-3 mitigates alpha-synuclein aggregation and toxicity in the in vivo preformed fibril model

Alpha-synuclein (αsyn) is the key component of proteinaceous aggregates termed Lewy Bodies that pathologically define a group of disorders known as synucleinopathies, including Parkinson’s Disease (PD) and Dem...

Authors: Rachel Underwood, Mary Gannon, Aneesh Pathak, Navya Kapa, Sidhanth Chandra, Alyssa Klop and Talene A. Yacoubian

Loss of cholinergic innervation differentially affects eNOS-mediated blood flow, drainage of Aβ and cerebral amyloid angiopathy in the cortex and hippocampus of adult mice

Vascular dysregulation and cholinergic basal forebrain degeneration are both early pathological events in the development of Alzheimer’s disease (AD). Acetylcholine contributes to localised arterial dilatation...

Authors: Shereen Nizari, Jack A. Wells, Roxana O. Carare, Ignacio A. Romero and Cheryl A. Hawkes

Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing

Neurofibromatosis Type I (NF1) is a neurocutaneous genetic syndrome characterized by a wide spectrum of clinical presentations, including benign peripheral nerve sheath tumor called neurofibroma. These tumors ...

Authors: Jean-Philippe Brosseau, Adwait A. Sathe, Yong Wang, Toan Nguyen, Donald A. Glass II, Chao Xing and Lu Q. Le

Amyloid β and tau pathology in brains of aged pinniped species (sea lion, seal, and walrus)

Alzheimer’s disease (AD) is characterized by the accumulation of amyloid-β (Aβ) as senile plaques and cerebral amyloid angiopathy, and hyperphosphorylated tau (hp-tau) as neurofibrillary tangles in the brain. ...

Authors: Yuta Takaichi, James K. Chambers, Kei Takahashi, Yoshiyuki Soeda, Riki Koike, Etsuko Katsumata, Chiaki Kita, Fuko Matsuda, Makoto Haritani, Akihiko Takashima, Hiroyuki Nakayama and Kazuyuki Uchida

Sporadic multiple meningiomas harbor distinct driver mutations

Authors: Tareq A. Juratli, Insa Prilop, Felix C. Saalfeld, Sylvia Herold, Matthias Meinhardt, Carina Wenzel, Silke Zeugner, Daniela E. Aust, Fred G. Barker 2nd, Daniel P. Cahill, Priscilla K. Brastianos, Sandro Santagata, Gabriele Schackert and Thomas Pinzer

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies. Many of these trials have reported a cl...

Authors: Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri…

Individual responsiveness of macrophage migration inhibitory factor predicts long-term cognitive impairment after bacterial meningitis

Patients with pneumococcal meningitis are at risk for death and neurological sequelae including cognitive impairment. Functional genetic polymorphisms of macrophage migration inhibitory factor (MIF) alleles ha...

Authors: Anne T. Kloek, Mercedes Valls Seron, Ben Schmand, Michael W. T. Tanck, Arie van der Ende, Matthijs C. Brouwer and Diederik van de Beek

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Focal malformations of cortical development (MCD) are linked to somatic brain mutations occurring during neurodevelopment. Mild malformation of cortical development with oligodendroglial hyperplasia in epileps...

Authors: Thomas Bonduelle, Till Hartlieb, Sara Baldassari, Nam Suk Sim, Se Hoon Kim, Hoon-Chul Kang, Katja Kobow, Roland Coras, Mathilde Chipaux, Georg Dorfmüller, Homa Adle-Biassette, Eleonora Aronica, Jeong Ho Lee, Ingmar Blumcke and Stéphanie Baulac