Articles

Low-level blast exposure disrupts gliovascular and neurovascular connections and induces a chronic vascular pathology in rat brain

Much concern exists over the role of blast-induced traumatic brain injury (TBI) in the chronic cognitive and mental health problems that develop in veterans and active duty military personnel. The brain vascul...

Authors: Miguel A. Gama Sosa, Rita De Gasperi, Georgina S. Perez Garcia, Gissel M. Perez, Courtney Searcy, Danielle Vargas, Alicia Spencer, Pierce L. Janssen, Anna E. Tschiffely, Richard M. McCarron, Benjamin Ache, Rajaram Manoharan, William G. Janssen, Susan J. Tappan, Russell W. Hanson, Sam Gandy…

Increased plasma neurofilament light chain concentration correlates with severity of post-mortem neurofibrillary tangle pathology and neurodegeneration

Alzheimer’s disease (AD) is pathologically characterized by the accumulation of amyloid-β (Aβ) plaques, neurofibrillary tangles and widespread neuronal loss in the brain. In recent years, blood biomarkers have...

Authors: Nicholas J. Ashton, Antoine Leuzy, Yau Mun Lim, Claire Troakes, Tibor Hortobágyi, Kina Höglund, Dag Aarsland, Simon Lovestone, Michael Schöll, Kaj Blennow, Henrik Zetterberg and Abdul Hye

Optic nerve thinning and neurosensory retinal degeneration in the rTg4510 mouse model of frontotemporal dementia

Visual impairments, such as difficulties in reading and finding objects, perceiving depth and structure from motion, and impaired stereopsis, have been reported in tauopathy disorders, such as frontotemporal d...

Authors: Ian F. Harrison, Rozalind Whitaker, Pietro Maria Bertelli, James M. O’Callaghan, Lajos Csincsik, Martina Bocchetta, Da Ma, Alice Fisher, Zeshan Ahmed, Tracey K. Murray, Michael J. O’Neill, Jonathan D. Rohrer, Mark F. Lythgoe and Imre Lengyel

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a...

Authors: Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty…

A pathogenic tau fragment compromises microtubules, disrupts insulin signaling and induces the unfolded protein response

Human tauopathies including Alzheimer’s disease, progressive supranuclear palsy and related disorders, are characterized by deposition of pathological forms of tau, synaptic dysfunction and neuronal loss. We h...

Authors: Tong Guo, Dina Dakkak, Teresa Rodriguez-Martin, Wendy Noble and Diane P. Hanger

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Prion diseases are neurodegenerative disorders which are caused by an accumulation of the abnormal, misfolded prion protein known as scrapie prion protein (PrP^Sc). These disorders are unique as they occur as spor...

Authors: Giuseppe Di Fede, Marcella Catania, Cristiana Atzori, Fabio Moda, Claudio Pasquali, Antonio Indaco, Marina Grisoli, Marta Zuffi, Maria Cristina Guaita, Roberto Testi, Stefano Taraglio, Maria Sessa, Graziano Gusmaroli, Mariacarmela Spinelli, Giulia Salzano, Giuseppe Legname…

Amyloid-beta and phosphorylated tau in post-mortem Alzheimer’s disease retinas

In-vivo labeling of retinal amyloid-beta(Aβ) and tau has potential as non-invasive biomarker for Alzheimer’s disease (AD). However, literature on the presence of Aβ and phosphorylated tau (pTau) in AD retinas ...

Authors: Jurre den Haan, Tjado H. J. Morrema, Frank D. Verbraak, Johannes F. de Boer, Philip Scheltens, Annemieke J. Rozemuller, Arthur A. B. Bergen, Femke H. Bouwman and Jeroen J. Hoozemans

A functional genomics approach to identify pathways of drug resistance in medulloblastoma

Authors: Kelsey C. Bertrand, Claudia C. Faria, Patryk Skowron, Amanda Luck, Livia Garzia, Xiaochong Wu, Sameer Agnihotri, Christian A. Smith, Michael D. Taylor, Stephen C. Mack and James T. Rutka

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual ...

Authors: Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher and Ursula Keber

GJA1 (connexin43) is a key regulator of Alzheimer’s disease pathogenesis

GJA1 (connexin43) has been predicted as the top key driver of an astrocyte enriched subnetwork associated with Alzheimer’s disease (AD). In this study, we comprehensively examined GJA1 expression across 29 transc...

Authors: Yuji Kajiwara, Erming Wang, Minghui Wang, Wun Chey Sin, Kristen J. Brennand, Eric Schadt, Christian C. Naus, Joseph Buxbaum and Bin Zhang

Deficit of corpus callosum axons, reduced axon diameter and decreased area are markers of abnormal development of interhemispheric connections in autistic subjects

In autism spectrum disorder, lack of coherence and of complex information processing, and narrowly focused interests and repetitive behaviors are considered a sign of long-range underconnectivity and short-ran...

Authors: Jarek Wegiel, Wojciech Kaczmarski, Michael Flory, Veronica Martinez-Cerdeno, Thomas Wisniewski, Krzysztof Nowicki, Izabela Kuchna and Jerzy Wegiel

Dichotomous scoring of TDP-43 proteinopathy from specific brain regions in 27 academic research centers: associations with Alzheimer’s disease and cerebrovascular disease pathologies

TAR-DNA binding protein 43 (TDP-43) proteinopathy is a common brain pathology in elderly persons, but much remains to be learned about this high-morbidity condition. Published stage-based systems for operation...

Authors: Yuriko Katsumata, David W. Fardo, Walter A. Kukull and Peter T. Nelson

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Authors: Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi and Marina Mora

Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3

Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). To begin to understand how mutations in

Authors: Christina Moloney, Sruti Rayaprolu, John Howard, Susan Fromholt, Hilda Brown, Matt Collins, Mariela Cabrera, Colin Duffy, Zoe Siemienski, Dave Miller, David R. Borchelt and Jada Lewis

Co-occurrence of chronic traumatic encephalopathy and prion disease

Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease associated with repetitive traumatic brain injury (TBI). CTE is generally found in athletes participating in contact sports and military pe...

Authors: Satish Kumar Nemani, Silvio Notari, Ignazio Cali, Victor E Alvarez, Diane Kofskey, Mark Cohen, Robert A. Stern, Brian Appleby, Joseph Abrams, Lawrence Schonberger, Ann McKee and Pierluigi Gambetti

Mitochondrial transfer from mesenchymal stem cells to neural stem cells protects against the neurotoxic effects of cisplatin

Mesenchymal stem cells (MSCs) transfer healthy mitochondria to damaged acceptor cells via actin-based intercellular structures. In this study, we tested the hypothesis that MSCs transfer mitochondria to neural...

Authors: Nabila Boukelmoune, Gabriel S. Chiu, Annemieke Kavelaars and Cobi J. Heijnen

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila

TAR DNA-binding protein-43 (TDP-43) is a ubiquitously expressed DNA-/RNA-binding protein that has been linked to numerous aspects of the mRNA life cycle. Similar to many RNA-binding proteins, TDP-43 expression...

Authors: Marine Pons, Silvia Prieto, Laetitia Miguel, Thierry Frebourg, Dominique Campion, Carles Suñé and Magalie Lecourtois

5-HIAA induces neprilysin to ameliorate pathophysiology and symptoms in a mouse model for Alzheimer’s disease

Serotoninergic activation which decreases brain Aβ peptides is considered beneficial in mouse models for Alzheimer’s disease (AD), but the mechanisms involved remain unclear. Because growing evidence suggested...

Authors: Christian Klein, Guy Roussel, Susana Brun, Cristina Rusu, Christine Patte-Mensah, Michel Maitre and Ayikoe-Guy Mensah-Nyagan

Immunological analysis of phase II glioblastoma dendritic cell vaccine (Audencel) trial: immune system characteristics influence outcome and Audencel up-regulates Th1-related immunovariables

Audencel is a dendritic cell (DC)-based cellular cancer immunotherapy against glioblastoma multiforme (GBM). It is characterized by loading of DCs with autologous whole tumor lysate and in vitro maturation via...

Authors: Friedrich Erhart, Johanna Buchroithner, René Reitermaier, Katrin Fischhuber, Simone Klingenbrunner, Ido Sloma, Dror Hibsh, Renana Kozol, Sol Efroni, Gerda Ricken, Adelheid Wöhrer, Christine Haberler, Johannes Hainfellner, Günther Krumpl, Thomas Felzmann, Alexander M. Dohnal…

Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors

Extensive molecular analyses of ependymal tumors have revealed that supratentorial and posterior fossa ependymomas have distinct molecular profiles and are likely to be different diseases. The presence of C11orf9...

Authors: Kohei Fukuoka, Yonehiro Kanemura, Tomoko Shofuda, Shintaro Fukushima, Satoshi Yamashita, Daichi Narushima, Mamoru Kato, Mai Honda-Kitahara, Hitoshi Ichikawa, Takashi Kohno, Atsushi Sasaki, Junko Hirato, Takanori Hirose, Takashi Komori, Kaishi Satomi, Akihiko Yoshida…

Skeletal myopathy in Pompe disease: a failure of satellite cell activation?

Authors: Annie Hiniker and Marta Margeta

Different tau species lead to heterogeneous tau pathology propagation and misfolding

Tauopathies are a heterogeneous group of pathologies characterized by tau aggregation inside neurons. Most of them are sporadic but certain tauopathies rely on tau gene (MAPT) mutations. They particularly diff...

Authors: Simon Dujardin, Séverine Bégard, Raphaëlle Caillierez, Cédrick Lachaud, Sébastien Carrier, Sarah Lieger, Jose A. Gonzalez, Vincent Deramecourt, Nicole Déglon, Claude-Alain Maurage, Matthew P. Frosch, Bradley T. Hyman, Morvane Colin and Luc Buée

In vivo induction of membrane damage by β-amyloid peptide oligomers

Exposure to the β-amyloid peptide (Aβ) is toxic to neurons and other cell types, but the mechanism(s) involved are still unresolved. Synthetic Aβ oligomers can induce ion-permeable pores in synthetic membranes...

Authors: Carl Julien, Colson Tomberlin, Christine M. Roberts, Aumbreen Akram, Gretchen H. Stein, Michael A. Silverman and Christopher D. Link

The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer’s disease

Accumulating evidence demonstrating higher cerebrospinal fluid (CSF) α-synuclein (αSyn) levels and αSyn pathology in the brains of Alzheimer’s disease (AD) patients suggests that αSyn is involved in the pathop...

Authors: Daniel Twohig, Elena Rodriguez-Vieitez, Sigrid B. Sando, Guro Berge, Camilla Lauridsen, Ina Møller, Gøril R. Grøntvedt, Geir Bråthen, Kalicharan Patra, Guojun Bu, Tammie L. S. Benzinger, Celeste M. Karch, Anne Fagan, John C. Morris, Randall J. Bateman, Agneta Nordberg…

Forced turnover of aged microglia induces an intermediate phenotype but does not rebalance CNS environmental cues driving priming to immune challenge

Microglia are the resident innate immune cells of the central nervous system. Limited turnover throughout the lifespan leaves microglia susceptible to age-associated dysfunction. Indeed, we and others have rep...

Authors: Shane M. O’Neil, Kristina G. Witcher, Daniel B. McKim and Jonathan P. Godbout

Endothelial damage, vascular bagging and remodeling of the microvascular bed in human microangiopathy with deep white matter lesions

White matter lesions (WMLs) are a common manifestation of small vessel disease (SVD) in the elderly population. They are associated with an enhanced risk of developing gait abnormalities, poor executive functi...

Authors: Karin M. E. Forsberg, Yingshuang Zhang, Johanna Reiners, Martina Ander, Alexandra Niedermayer, Lubin Fang, Hermann Neugebauer, Jan Kassubek, Istvan Katona, Joachim Weis, Albert C. Ludolph, Kelly Del Tredici, Heiko Braak and Deniz Yilmazer-Hanke

Tonic ATP-mediated growth suppression in peripheral nerve glia requires arrestin-PP2 and is evaded in NF1

Normal Schwann cells (SCs) are quiescent in adult nerves, when ATP is released from the nerve in an activity dependent manner. We find that suppressing nerve activity in adult nerves causes SC to enter the cel...

Authors: Robert A. Coover, Tabitha E. Healy, Li Guo, Katherine E. Chaney, Robert F. Hennigan, Craig S. Thomson, Lindsey E. Aschbacher-Smith, Michael P. Jankowski and Nancy Ratner

Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics

Since 2013 next-generation sequencing (NGS) targeting genes mutated in diffuse gliomas is part of routine diagnostics in our institute. In the present report, we evaluate the use of this custom tailored NGS pl...

Authors: Nathalie E. Synhaeve, Martin J. van den Bent, Pim J. French, Winand N. M. Dinjens, Peggy N. Atmodimedjo, Johan M. Kros, R. Verdijk, Clemens M. F. Dirven and Hendrikus J. Dubbink

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features

A hexanucleotide repeat expansion (HRE) within the chromosome 9 open reading frame 72 (C9orf72) gene is the most prevalent cause of amyotrophic lateral sclerosis/fronto-temporal dementia (ALS/FTD). Current eviden...

Authors: Matthew P. Shaw, Adrian Higginbottom, Alexander McGown, Lydia M. Castelli, Evlyn James, Guillaume M. Hautbergue, Pamela J. Shaw and Tennore M. Ramesh

The physiology of foamy phagocytes in multiple sclerosis

Multiple sclerosis (MS) is a chronic disease of the central nervous system characterized by massive infiltration of immune cells, demyelination, and axonal loss. Active MS lesions mainly consist of macrophages...

Authors: Elien Grajchen, Jerome J. A. Hendriks and Jeroen F. J. Bogie

SETD2 mutations in primary central nervous system tumors

Mutations in SETD2 are found in many tumors, including central nervous system (CNS) tumors. Previous work has shown these mutations occur specifically in high grade gliomas of the cerebral hemispheres in pediatri...

Authors: Angela N. Viaene, Mariarita Santi, Jason Rosenbaum, Marilyn M. Li, Lea F. Surrey and MacLean P. Nasrallah

Mutant UBQLN2^P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats

Mutations in ubiquilin2 (UBQLN2) have been linked to abnormal protein aggregation in amyotrophic lateral sclerosis (ALS). The mechanisms underlying UBQLN2-related neurodegenerative diseases remain unclear. Usi...

Authors: Tianhong Chen, Bo Huang, Xinglong Shi, Limo Gao and Cao Huang

Decoding the synaptic dysfunction of bioactive human AD brain soluble Aβ to inspire novel therapeutic avenues for Alzheimer’s disease

Pathologic, biochemical and genetic evidence indicates that accumulation and aggregation of amyloid β-proteins (Aβ) is a critical factor in the pathogenesis of Alzheimer’s disease (AD). Several therapeutic int...

Authors: Shaomin Li, Ming Jin, Lei Liu, Yifan Dang, Beth L. Ostaszewski and Dennis J. Selkoe

Nicotine promotes neuron survival and partially protects from Parkinson’s disease by suppressing SIRT6

Parkinson’s disease is characterized by progressive death of dopaminergic neurons, leading to motor and cognitive dysfunction. Epidemiological studies consistently show that the use of tobacco reduces the risk...

Authors: Justin W. Nicholatos, Adam B. Francisco, Carolyn A. Bender, Tiffany Yeh, Fraz J. Lugay, Jairo E. Salazar, Christin Glorioso and Sergiy Libert

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells ...

Authors: Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg and W. W. M. Pim Pijnappel

Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy

Authors: Melissa M. Blessing, Patrick R. Blackburn, Jessica R. Balcom, Chandra Krishnan, Virginia L. Harrod, Michael T. Zimmermann, Emily G. Barr Fritcher, Christopher D. Zysk, Rory A. Jackson, Asha A. Nair, Robert B. Jenkins, Kevin C. Halling, Benjamin R. Kipp and Cristiane M. Ida

Transcriptomic and epigenetic profiling of ‘diffuse midline gliomas, H3 K27M-mutant’ discriminate two subgroups based on the type of histone H3 mutated and not supratentorial or infratentorial location

Diffuse midline glioma (DMG), H3 K27M-mutant, is a new entity in the updated WHO classification grouping together diffuse intrinsic pontine gliomas and infiltrating glial neoplasms of the midline harboring the...

Authors: David Castel, Cathy Philippe, Thomas Kergrohen, Martin Sill, Jane Merlevede, Emilie Barret, Stéphanie Puget, Christian Sainte-Rose, Christof M. Kramm, Chris Jones, Pascale Varlet, Stefan M. Pfister, Jacques Grill, David T. W. Jones and Marie-Anne Debily

Variation in TMEM106B in chronic traumatic encephalopathy

The genetic basis of chronic traumatic encephalopathy (CTE) is poorly understood. Variation in transmembrane protein 106B (TMEM106B) has been associated with enhanced neuroinflammation during aging and with TDP-4...

Authors: Jonathan D. Cherry, Jesse Mez, John F. Crary, Yorghos Tripodis, Victor E. Alvarez, Ian Mahar, Bertrand R. Huber, Michael L. Alosco, Raymond Nicks, Bobak Abdolmohammadi, Patrick T. Kiernan, Laney Evers, Sarah Svirsky, Katharine Babcock, Hannah M. Gardner, Gaoyuan Meng…

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II)

Pompe disease, which is due to acid alpha-glucosidase deficiency, is characterized by skeletal muscle dysfunction attributed to the accumulation of glycogen-filled lysosomes and autophagic buildup. Despite the...

Authors: Lydie Lagalice, Julien Pichon, Eliot Gougeon, Salwa Soussi, Johan Deniaud, Mireille Ledevin, Virginie Maurier, Isabelle Leroux, Sylvie Durand, Carine Ciron, Francesca Franzoso, Laurence Dubreil, Thibaut Larcher, Karl Rouger and Marie-Anne Colle

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [¹⁸F]Flortaucipir PET

This study aimed to determine the pattern of [¹⁸F]flortaucipir uptake in individuals affected by Gerstmann-Sträussler-Scheinker disease (GSS) associated with the PRNP F198S mutation. The aims were to: 1) determin...

Authors: Shannon L. Risacher, Martin R. Farlow, Daniel R. Bateman, Francine Epperson, Eileen F. Tallman, Rose Richardson, Jill R. Murrell, Frederick W. Unverzagt, Liana G. Apostolova, Jose M. Bonnin, Bernardino Ghetti and Andrew J. Saykin

Formation of Toxic Oligomeric Assemblies of RNA-binding Protein: Musashi in Alzheimer’s disease

Alzheimer’s disease (AD) is the most common neurodegenerative disorder associated with structural and functional alterations of brain cells causing progressive deterioration of memory and other cognitive funct...

Authors: Urmi Sengupta, Mauro Montalbano, Salome McAllen, Gerard Minuesa, Michael Kharas and Rakez Kayed

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

Authors: Filippo Pinto e Vairo, Nicole Bertsch, Eric W. Klee and Ralitza H. Gavrilova

EphrinB/EphB forward signaling in Müller cells causes apoptosis of retinal ganglion cells by increasing tumor necrosis factor alpha production in rat experimental glaucomatous model

It was previously shown that EphB/ephrinB reverse signaling in retinal ganglion cells (RGCs) is activated and involved in RGC apoptosis in a rat chronic ocular hypertension (COH) model. In the present work, we...

Authors: Shu-Ting Liu, Shu-Min Zhong, Xue-Yan Li, Feng Gao, Fang Li, Meng-Lu Zhang, Ke Zhu, Xing-Huai Sun, Xin Wang, Yanying Miao, Xiong-Li Yang and Zhongfeng Wang

NMDA receptors mediate synaptic depression, but not spine loss in the dentate gyrus of adult amyloid Beta (Aβ) overexpressing mice

Amyloid beta (Aβ)-mediated synapse dysfunction and spine loss are considered to be early events in Alzheimer’s disease (AD) pathogenesis. N-methyl-D-aspartate receptors (NMDARs) have previously been suggested to ...

Authors: Michaela Kerstin Müller, Eric Jacobi, Kenji Sakimura, Roberto Malinow and Jakob von Engelhardt

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or in association with various other cerebral and or extracerebral anomalies. Unlike...

Authors: Myriam Vezain, Matthieu Lecuyer, Marina Rubio, Valérie Dupé, Leslie Ratié, Véronique David, Laurent Pasquier, Sylvie Odent, Sophie Coutant, Isabelle Tournier, Laetitia Trestard, Homa Adle-Biassette, Denis Vivien, Thierry Frébourg, Bruno J Gonzalez, Annie Laquerrière…

Glycoprotein NMB: a novel Alzheimer’s disease associated marker expressed in a subset of activated microglia

Alzheimer’s disease (AD) is an irreversible, devastating neurodegenerative brain disorder characterized by the loss of neurons and subsequent cognitive decline. Despite considerable progress in the understandi...

Authors: Melanie Hüttenrauch, Isabella Ogorek, Hans Klafki, Markus Otto, Christine Stadelmann, Sascha Weggen, Jens Wiltfang and Oliver Wirths

Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls

Endolymphatic sac tumor (ELST) is a rare neoplasm arising in the temporal petrous region thought to originate from endolymphatic sac epithelium. It may arise sporadically or in association with Von-Hippel-Lind...

Authors: Rachel Jester, Iya Znoyko, Maria Garnovskaya, Joseph N Rozier, Ryan Kegl, Sunil Patel, Tuan Tran, Malak Abedalthagafi, Craig M Horbinski, Mary Richardson, Daynna J Wolff, Razvan Lapadat, William Moore, Fausto J Rodriguez, Jason Mull and Adriana Olar

TERT promoter wild-type glioblastomas show distinct clinical features and frequent PI3K pathway mutations

TERT promoter (TERTp) mutations are found in the majority of World Health Organization (WHO) grade IV adult IDH wild-type glioblastoma (IDH-wt GBM). Here, we characterized the subset of IDH-wt GBMs that do not ha...

Authors: Erik A. Williams, Julie J. Miller, Shilpa S. Tummala, Tristan Penson, A. John Iafrate, Tareq A. Juratli and Daniel P. Cahill

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations

Leucine-rich repeat kinase 2 (LRRK2) is the most common causative gene for autosomal dominant Parkinson’s disease (PD) and is also known to be a susceptibility gene for sporadic PD. Although clinical symptoms wit...

Authors: Masashi Takanashi, Manabu Funayama, Eiji Matsuura, Hiroyo Yoshino, Yuanzhe Li, Sho Tsuyama, Hiroshi Takashima, Kenya Nishioka and Nobutaka Hattori

Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease

Astrocyte reactivity and neuroinflammation are hallmarks of CNS pathological conditions such as Alzheimer’s disease. However, the specific role of reactive astrocytes is still debated. This controversy may ste...

Authors: Kelly Ceyzériat, Lucile Ben Haim, Audrey Denizot, Dylan Pommier, Marco Matos, Océane Guillemaud, Marie-Ange Palomares, Laurene Abjean, Fanny Petit, Pauline Gipchtein, Marie-Claude Gaillard, Martine Guillermier, Sueva Bernier, Mylène Gaudin, Gwenaëlle Aurégan, Charlène Joséphine…