Articles

Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo

For the proper organization of the six-layered mammalian neocortex it is required that neurons migrate radially from their place of birth towards their designated destination. The molecular machinery underlyin...

Authors: Lena Will, Sybren Portegies, Jasper van Schelt, Merel van Luyk, Dick Jaarsma and Casper C. Hoogenraad

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Reduction of select or total C9orf72 t...

Authors: Shangxi Xiao, Paul M. McKeever, Agnes Lau and Janice Robertson

Chronic nigral neuromodulation aggravates behavioral deficits and synaptic changes in an α-synuclein based rat model for Parkinson’s disease

Aggregation of alpha-synuclein (α-SYN) is the pathological hallmark of several diseases named synucleinopathies, including Parkinson’s disease (PD), which is the most common neurodegenerative motor disorder. A...

Authors: Teresa Torre-Muruzabal, Jens Devoght, Chris Van den Haute, Bert Brône, Anke Van der Perren and Veerle Baekelandt

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants

Tau aggregation is a hallmark feature in a subset of patients with frontotemporal dementia (FTD). Early and selective loss of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterio...

Authors: Li-Chun Lin, Alissa L. Nana, Mackenzie Hepker, Ji-Hye Lee Hwang, Stephanie E. Gaus, Salvatore Spina, Celica G. Cosme, Li Gan, Lea T. Grinberg, Daniel H. Geschwind, Giovanni Coppola, Howard J. Rosen, Bruce L. Miller and William W. Seeley

Correction to: Retinal pathology in experimental optic neuritis is characterized by retrograde degeneration and gliosis

In the original publication of this article [1], Fig. 10 contained two panels “C” as panel “F” was accidentally omitted. The incorrect (Fig. 1) and correct (Fig. 2) versions are published in this correction ar...

Authors: Praveena Manogaran, Marijana Samardzija, Anaïs Nura Schad, Carla Andrea Wicki, Christine Walker-Egger, Markus Rudin, Christian Grimm and Sven Schippling

The prognostic role of IDH mutations in homogeneously treated patients with anaplastic astrocytomas and glioblastomas

The detection of IDH mutations in patients with diffusely infiltrating malignant astrocytomas resulted in substantial modifications in the concept of WHO classification of these tumors. An important underlying...

Authors: Arne Christians, Antonia Adel-Horowski, Rouzbeh Banan, Ulrich Lehmann, Stephan Bartels, Felix Behling, Alonso Barrantes-Freer, Christine Stadelmann, Veit Rohde, Florian Stockhammer and Christian Hartmann

Capture at the single cell level of metabolic modules distinguishing aggressive and indolent glioblastoma cells

Glioblastoma cell ability to adapt their functioning to microenvironment changes is a source of the extensive intra-tumor heterogeneity characteristic of this devastating malignant brain tumor. A systemic view...

Authors: Mirca S. Saurty-Seerunghen, Léa Bellenger, Elias A. El-Habr, Virgile Delaunay, Delphine Garnier, Hervé Chneiweiss, Christophe Antoniewski, Ghislaine Morvan-Dubois and Marie-Pierre Junier

Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, which causes dysfunction/loss of lower motor neurons and muscle weakness as well as atrophy. While SMA is primarily considered as a motor n...

Authors: Wiebke A. Rehorst, Maximilian P. Thelen, Hendrik Nolte, Clara Türk, Sebahattin Cirak, Jonathan M. Peterson, G. William Wong, Brunhilde Wirth, Marcus Krüger, Dominic Winter and Min Jeong Kye

Plasminogen Activator Inhibitor-1 (PAI-1) deficiency predisposes to depression and resistance to treatments

Major depressive disorder (MDD) is one of the most frequent psychiatric illnesses, leading to reduced quality of life, ability to work and sociability, thus ranking among the major causes of disability and mor...

Authors: Hélène Party, Cléo Dujarrier, Marie Hébert, Sophie Lenoir, Sara Martinez de Lizarrondo, Raphaël Delépée, Claudine Fauchon, Marie-Christine Bouton, Pauline Obiang, Olivier Godefroy, Etienne Save, Laurent Lecardeur, Joëlle Chabry, Denis Vivien and Véronique Agin

Profiling the unique protective properties of intracranial arterial endothelial cells

Cardiovascular disorders, like atherosclerosis and hypertension, are increasingly known to be associated with vascular cognitive impairment (VCI). In particular, intracranial atherosclerosis is one of the main...

Authors: Dorien M. A. Hermkens, Olga C. G. Stam, Nienke M. de Wit, Ruud D. Fontijn, Aldo Jongejan, Perry D. Moerland, Claire Mackaaij, Ingeborg S. E. Waas, Mat J. A. P. Daemen and Helga E. de Vries

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most...

Authors: Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman…

Epigenetic downregulation of STAT6 increases HIF-1α expression via mTOR/S6K/S6, leading to enhanced hypoxic viability of glioma cells

Multifunctional signal transducer and activator of transcription (STAT) proteins play important roles in cancer. Here, we have shown that STAT6 is epigenetically silenced in some cases of malignant glioblastom...

Authors: Soo Jung Park, Hyunmi Kim, Se Hyuk Kim, Eun-hye Joe and Ilo Jou

Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson’s disease brain extracts in transgenic mice

Synucleinopathies [Parkinson’s disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA)] share filamentous α-synuclein assemblies in nerve cells and glial cells. We compared the abilitie...

Authors: Isabelle Lavenir, Daniela Passarella, Masami Masuda-Suzukake, Annabelle Curry, Janice L. Holton, Bernardino Ghetti and Michel Goedert

The p75^NTR neurotrophin receptor is required to organize the mature neuromuscular synapse by regulating synaptic vesicle availability

The coordinated movement of organisms relies on efficient nerve-muscle communication at the neuromuscular junction. After peripheral nerve injury or neurodegeneration, motor neurons and Schwann cells increase ...

Authors: Viviana Pérez, Francisca Bermedo-Garcia, Diego Zelada, Felipe A. Court, Miguel Ángel Pérez, Marco Fuenzalida, Johanna Ábrigo, Claudio Cabello-Verrugio, Guillermo Moya-Alvarado, Juan Carlos Tapia, Vicente Valenzuela, Claudio Hetz, Francisca C. Bronfman and Juan Pablo Henríquez

Perfusion fixation in brain banking: a systematic review

Perfusing fixatives through the cerebrovascular system is the gold standard approach in animals to prepare brain tissue for spatial biomolecular profiling, circuit tracing, and ultrastructural studies such as ...

Authors: Whitney C. McFadden, Hadley Walsh, Felix Richter, Céline Soudant, Clare H. Bryce, Patrick R. Hof, Mary Fowkes, John F. Crary and Andrew T. McKenzie

Encephalopathy induced by Alzheimer brain inoculation in a non-human primate

Alzheimer’s disease is characterized by cognitive alterations, cerebral atrophy and neuropathological lesions including neuronal loss, accumulation of misfolded and aggregated β-amyloid peptides (Aβ) and tau p...

Authors: Charlotte Gary, Suzanne Lam, Anne-Sophie Hérard, James E. Koch, Fanny Petit, Pauline Gipchtein, Stephen J. Sawiak, Raphaëlle Caillierez, Sabiha Eddarkaoui, Morvane Colin, Fabienne Aujard, Jean-Philippe Deslys, Emmanuel Brouillet, Luc Buée, Emmanuel E. Comoy, Fabien Pifferi…

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

Over recent years, human autoantibodies targeting myelin oligodendrocyte glycoprotein (MOG Ab) have been associated with monophasic and relapsing central nervous system demyelination involving the optic nerves...

Authors: Fiona Tea, Joseph A. Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona X. Z. Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M. Tantsis, Eppie M. Yiu, Steve Vucic, Andrew P. D. Henderson, Anthony Fok, Clare L. Fraser…

Optimization of ultrastructural preservation of human brain for transmission electron microscopy after long post-mortem intervals

Electron microscopy (EM) provides the necessary resolution to visualize the finer structures of nervous tissue morphology, which is important to understand healthy and pathological conditions in the brain. How...

Authors: Mariella Sele, Stefan Wernitznig, Saška Lipovšek, Snježana Radulović, Johannes Haybaeck, Anna Maria Birkl-Toeglhofer, Christina Wodlej, Florian Kleinegger, Stephan Sygulla, Marlene Leoni, Stefan Ropele and Gerd Leitinger

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation repeat expansion (55–200 CGG repeats) in the 5′ noncoding region of the FMR1 gene. Solitary intran...

Authors: Lisa Ma, Anthony W. Herren, Glenda Espinal, Jamie Randol, Bridget McLaughlin, Veronica Martinez-Cerdeño, Isaac N. Pessah, Randi J. Hagerman and Paul J. Hagerman

Unique α-synuclein pathology within the amygdala in Lewy body dementia: implications for disease initiation and progression

The protein α-synuclein (αsyn) forms pathologic aggregates in a number of neurodegenerative diseases including Lewy body dementia (LBD) and Parkinson’s disease (PD). It is unclear why diseases such as LBD may ...

Authors: Zachary A. Sorrentino, Marshall S. Goodwin, Cara J. Riffe, Jess-Karan S. Dhillon, Yuxing Xia, Kimberly-Marie Gorion, Niran Vijayaraghavan, Karen N. McFarland, Lawrence I. Golbe, Anthony T. Yachnis and Benoit I. Giasson

Aβ43 in human Alzheimer’s disease: effects of active Aβ42 immunization

Neuropathological follow-up of patients with Alzheimer’s disease (AD) who participated in the first clinical trial of Amyloid-β 42 (Aβ42) immunization (AN1792, Elan Pharmaceuticals) has shown that immunization...

Authors: Lieke Jäkel, Delphine Boche, James A. R. Nicoll and Marcel M. Verbeek

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT

Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study, we were interested whether genetic alterations in I...

Authors: Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk

Telomere alterations in neurofibromatosis type 1-associated solid tumors

The presence of Alternative lengthening of telomeres (ALT) and/or ATRX loss, as well as the role of other telomere abnormalities, have not been formally studied across the spectrum of NF1-associated solid tumo...

Authors: Fausto J. Rodriguez, Mindy K. Graham, Jacqueline A. Brosnan-Cashman, John R. Barber, Christine Davis, M. Adelita Vizcaino, Doreen N. Palsgrove, Caterina Giannini, Melike Pekmezci, Sonika Dahiya, Murat Gokden, Michael Noë, Laura D. Wood, Christine A. Pratilas, Carol D. Morris, Allan Belzberg…

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clin...

Authors: Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte and Johann Böhm

Downregulation of Nodal inhibits metastatic progression in retinoblastoma

Retinoblastoma is the most common intraocular malignancy in children. We previously found that the ACVR1C/SMAD2 pathway is significantly upregulated in invasive retinoblastoma samples from patients. Here we st...

Authors: Laura Asnaghi, David T. White, Lynn Yoon, Antoinette Price, Grace Y. Lee, Arpan Sahoo, Jeff S. Mumm and Charles G. Eberhart

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

The authors have retracted this article [1] because a line was omitted from the data sheet; this was due to a bug in the analysis scripts.

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

Ischemic axonal injury up-regulates MARK4 in cortical neurons and primes tau phosphorylation and aggregation

Ischemic injury to white matter tracts is increasingly recognized to play a key role in age-related cognitive decline, vascular dementia, and Alzheimer’s disease. Knowledge of the effects of ischemic axonal in...

Authors: Eric Y. Hayden, Jennifer Putman, Stefanie Nunez, Woo Shik Shin, Mandavi Oberoi, Malena Charreton, Suman Dutta, Zizheng Li, Yutaro Komuro, Mary Teena Joy, Gal Bitan, Allan MacKenzie-Graham, Lin Jiang and Jason D. Hinman

Retinal ischemia induces α-SMA-mediated capillary pericyte contraction coincident with perivascular glycogen depletion

Increasing evidence indicates that pericytes are vulnerable cells, playing pathophysiological roles in various neurodegenerative processes. Microvascular pericytes contract during cerebral and coronary ischemi...

Authors: Luis Alarcon-Martinez, Sinem Yilmaz-Ozcan, Muge Yemisci, Jesse Schallek, Kıvılcım Kılıç, Deborah Villafranca-Baughman, Alp Can, Adriana Di Polo and Turgay Dalkara

Response of the neurovascular unit to brain metastatic breast cancer cells

Therapeutic resistance of cerebral secondary tumours largely depends on unique aspects linked to the neurovascular unit, especially cerebral endothelial cells and astrocytes. By using advanced microscopy techn...

Authors: János Haskó, Csilla Fazakas, Kinga Molnár, Ádám Mészáros, Roland Patai, Gábor Szabó, Ferenc Erdélyi, Ádám Nyúl-Tóth, Fanni Győri, Mihály Kozma, Attila E. Farkas, István A. Krizbai and Imola Wilhelm

Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations

Cerebral cavernous malformations (CCMs) are dilated capillaries causing epilepsy and stroke. Inheritance of a heterozygous mutation in CCM3/PDCD10 is responsible for the most aggressive familial form of the disea...

Authors: Janne Koskimäki, Dongdong Zhang, Yan Li, Laleh Saadat, Thomas Moore, Rhonda Lightle, Sean P. Polster, Julián Carrión-Penagos, Seán B. Lyne, Hussein A. Zeineddine, Changbin Shi, Robert Shenkar, Sharbel Romanos, Kenneth Avner, Abhinav Srinath, Le Shen…

Publisher Correction to: Acta Neuropathologica Communications, volume 7

An error occurred during the publication of a number of articles in Acta Neuropathologica Communications. Several articles were published in volume 7 with a duplicate citation number.

Authors:

The landscape of myeloid and astrocyte phenotypes in acute multiple sclerosis lesions

Activated myeloid cells and astrocytes are the predominant cell types in active multiple sclerosis (MS) lesions. Both cell types can adopt diverse functional states that play critical roles in lesion formation...

Authors: Calvin Park, Gerald Ponath, Maya Levine-Ritterman, Edward Bull, Eric C. Swanson, Philip L. De Jager, Benjamin M. Segal and David Pitt

Therapeutic antibody targeting microtubule-binding domain prevents neuronal internalization of extracellular tau via masking neuron surface proteoglycans

Pathologically altered tau protein is a common denominator of neurodegenerative disorders including Alzheimer’s disease (AD) and other tauopathies. Therefore, promising immunotherapeutic approaches target and ...

Authors: Petronela Weisová, Ondrej Cehlár, Rostislav Škrabana, Monika Žilková, Peter Filipčík, Branislav Kováčech, Michal Prčina, Ľubica Wojčiaková, Ľubica Fialová, Tomáš Smolek, Eva Kontseková, Norbert Žilka and Michal Novák

TERT expression is susceptible to BRAF and ETS-factor inhibition in BRAF^V600E/TERT promoter double-mutated glioma

The BRAF gene and the TERT promoter are among the most frequently altered genomic loci in low-grade (LGG) and high-grade-glioma (HGG), respectively. The coexistence of BRAF and TERT promoter aberrations character...

Authors: Lisa Gabler, Daniela Lötsch, Dominik Kirchhofer, Sushilla van Schoonhoven, Hannah M. Schmidt, Lisa Mayr, Christine Pirker, Katharina Neumayer, Carina Dinhof, Lucia Kastler, Amedeo A. Azizi, Christian Dorfer, Thomas Czech, Christine Haberler, Andreas Peyrl, Rajiv Kumar…

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

In the original publication of this article [1], the funding acknowledgement for grant “Alzheimer Society Research Program (ASRP) from the Alzheimer Society of Canada” was missing.

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

Glial pathology and retinal neurotoxicity in the anterior visual pathway in experimental autoimmune encephalomyelitis

The animal model experimental autoimmune encephalomyelitis (EAE) has been used extensively in the past to test mechanisms that target peripheral immune cells for treatment of multiple sclerosis (MS). While the...

Authors: Jing Jin, Matthew D. Smith, Calvin J. Kersbergen, Tae-In Kam, Mayuri Viswanathan, Kyle Martin, Ted M. Dawson, Valina L. Dawson, Donald J. Zack, Katharine Whartenby and Peter A. Calabresi

A soluble tau fragment generated by caspase-2 is associated with dementia in Lewy body disease

Lewy body diseases are neurodegenerative disorders characterized by Lewy bodies in the brain. Lewy body dementia (LBD) refers to two forms of Lewy body disease: Parkinson’s disease with dementia (PDD) and deme...

Authors: Benjamin R. Smith, Kathryn M. Nelson, Lisa J. Kemper, Kailee Leinonen-Wright, Ashley Petersen, C. Dirk Keene and Karen H. Ashe

Phase I and phase II sonidegib and vismodegib clinical trials for the treatment of paediatric and adult MB patients: a systemic review and meta-analysis

Medulloblastoma (MB) is the most common malignant brain tumour in children but also rarely occur in adults. Sonic Hedgehog (SHH) driven MB is associated with aberrant activation of the SHH signalling pathway. ...

Authors: Yuchen Li, Qingkun Song and Bryan W. Day

A soluble truncated tau species related to cognitive dysfunction and caspase-2 is elevated in the brain of Huntington’s disease patients

Huntington’s disease (HD) is a progressive neurodegenerative disease. Involuntary movements, cognitive impairment and psychiatric disturbance are the major clinical manifestations, and gradual atrophy and sele...

Authors: Peng Liu, Benjamin R. Smith, Eric S. Huang, Abhishek Mahesh, Jean Paul G. Vonsattel, Ashley J. Petersen, Rocio Gomez-Pastor and Karen H. Ashe

Correction to: Chronic traumatic encephalopathy in two former Australian National Rugby League players

In the original publication of this article [1] the term ‘National Rugby League (NRL)’ was used to refer to professional rugby league competition sport in Australia. The term should have read ‘professional rugby ...

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

Establishing a prognostic threshold for total copy number variation within adult IDH-mutant grade II/III astrocytomas

Authors: Kanish Mirchia, Matija Snuderl, Kristyn Galbraith, Kimmo J. Hatanpaa, Jamie M. Walker and Timothy E. Richardson

Soluble aggregates present in cerebrospinal fluid change in size and mechanism of toxicity during Alzheimer’s disease progression

Soluble aggregates of amyloid-β (Aβ) have been associated with neuronal and synaptic loss in Alzheimer’s disease (AD). However, despite significant recent progress, the mechanisms by which these aggregated spe...

Authors: Suman De, Daniel R. Whiten, Francesco S. Ruggeri, Craig Hughes, Margarida Rodrigues, Dimitrios I. Sideris, Christopher G. Taylor, Francesco A. Aprile, Serge Muyldermans, Tuomas P. J. Knowles, Michele Vendruscolo, Clare Bryant, Kaj Blennow, Ingmar Skoog, Silke Kern, Henrik Zetterberg…

Dramatic response of BRAF V600E-mutant epithelioid glioblastoma to combination therapy with BRAF and MEK inhibitor: establishment and xenograft of a cell line to predict clinical efficacy

Epithelioid glioblastoma is a rare aggressive variant of glioblastoma (GBM) characterized by a dismal prognosis of about 6 months and frequent leptomeningeal dissemination. A recent study has revealed that 50%...

Authors: Yu Kanemaru, Manabu Natsumeda, Masayasu Okada, Rie Saito, Daiki Kobayashi, Takeyoshi Eda, Jun Watanabe, Shoji Saito, Yoshihiro Tsukamoto, Makoto Oishi, Hirotake Saito, Masayuki Nagahashi, Takahiro Sasaki, Rintaro Hashizume, Hidefumi Aoyama, Toshifumi Wakai…

Mice deficient in the C-terminal domain of TAR DNA-binding protein 43 develop age-dependent motor dysfunction associated with impaired Notch1−Akt signaling pathway

Intracellular mislocalization of TAR DNA-binding protein 43 (TDP-43), a nuclear DNA/RNA-binding protein involved in RNA metabolism, is a pathological hallmark of amyotrophic lateral sclerosis (ALS). Although t...

Authors: Kohei Nishino, Seiji Watanabe, Jin Shijie, Yuri Murata, Kotaro Oiwa, Okiru Komine, Fumito Endo, Hitomi Tsuiji, Manabu Abe, Kenji Sakimura, Amit Mishra and Koji Yamanaka

Cross-examining candidate genes implicated in multiple system atrophy

Multiple system atrophy (MSA) is a devastating neurodegenerative disease characterized by the clinical triad of parkinsonism, cerebellar ataxia and autonomic failure, impacting on striatonigral, olivopontocere...

Authors: Jared S. Katzeff, Katherine Phan, Sivaraman Purushothuman, Glenda M. Halliday and Woojin Scott Kim

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia

Ubiquilin-2 (UBQLN2) is a member of the ubiquilin family, actively implicated in the degradation of misfolded and redundant proteins through the ubiquitin-proteasome system and macroautophagy. UBQLN2 received ...

Authors: Laurence Renaud, Vincent Picher-Martel, Philippe Codron and Jean-Pierre Julien

Retinal pathology in experimental optic neuritis is characterized by retrograde degeneration and gliosis

The exact mechanisms and temporal sequence of neurodegeneration in multiple sclerosis are still unresolved. The visual pathway including its unmyelinated retinal axons, can serve as a prototypic model of neuro...

Authors: Praveena Manogaran, Marijana Samardzija, Anaïs Nura Schad, Carla Andrea Wicki, Christine Walker-Egger, Markus Rudin, Christian Grimm and Sven Schippling

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population. In most people, the repe...

Authors: Alfredo Iacoangeli, Ahmad Al Khleifat, Ashley R. Jones, William Sproviero, Aleksey Shatunov, Sarah Opie-Martin, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Isabella Fogh, Richard J. Dobson, Stephen J. Newhouse and Ammar Al-Chalabi

Reduction of ephrin-A5 aggravates disease progression in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons in the brainstem, spinal cord and motor cortex. ALS is characterized by genetic and clinical heterogeneity, s...

Authors: Laura Rué, Patrick Oeckl, Mieke Timmers, Annette Lenaerts, Jasmijn van der Vos, Silke Smolders, Lindsay Poppe, Antina de Boer, Ludo Van Den Bosch, Philip Van Damme, Jochen H. Weishaupt, Albert C. Ludolph, Markus Otto, Wim Robberecht and Robin Lemmens

Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives

Multiple System Atrophy (MSA) is a severe neurodegenerative disease clinically characterized by parkinsonism, cerebellar ataxia, dysautonomia and other motor and non-motor symptoms.

Authors: Giacomo Monzio Compagnoni and Alessio Di Fonzo