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    8019 results match your criteria Acta neuropathologica[Journal]

    1 OF 161

    BACE1 inhibition more effectively suppresses initiation than progression of β-amyloid pathology.
    Acta Neuropathol 2018 Jan 11. Epub 2018 Jan 11.
    German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen Str. 17, 81377, Munich, Germany.
    BACE1 is the rate-limiting protease in the production of synaptotoxic β-amyloid (Aβ) species and hence one of the prime drug targets for potential therapy of Alzheimer's disease (AD). However, so far pharmacological BACE1 inhibition failed to rescue the cognitive decline in mild-to-moderate AD patients, which indicates that treatment at the symptomatic stage might be too late. In the current study, chronic in vivo two-photon microscopy was performed in a transgenic AD model to monitor the impact of pharmacological BACE1 inhibition on early β-amyloid pathology. Read More

    Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.
    Acta Neuropathol 2018 Jan 5. Epub 2018 Jan 5.
    Laboratory of General Pathology, Center of Aging Science and Translational Medicine (CeSI-MeT), Gabriele d'Annunzio University, Via Luigi Polacchi 11, 66100, Chieti, Italy.
    Tumours can be viewed as aberrant tissues or organs sustained by tumorigenic stem-like cells that engage into dysregulated histo/organogenetic processes. Paragangliomas, prototypical organoid tumours constituted by dysmorphic variants of the vascular and neural tissues found in normal paraganglia, provide a model to test this hypothesis. To understand the origin of paragangliomas, we built a biobank comprising 77 cases, 18 primary cultures, 4 derived cell lines, 80 patient-derived xenografts and 11 cell-derived xenografts. Read More

    Glia-to-neuron transfer of miRNAs via extracellular vesicles: a new mechanism underlying inflammation-induced synaptic alterations.
    Acta Neuropathol 2018 Jan 4. Epub 2018 Jan 4.
    CNR Institute of Neuroscience, via Vanvitelli 32, 20129, Milan, Italy.
    Recent evidence indicates synaptic dysfunction as an early mechanism affected in neuroinflammatory diseases, such as multiple sclerosis, which are characterized by chronic microglia activation. However, the mode(s) of action of reactive microglia in causing synaptic defects are not fully understood. In this study, we show that inflammatory microglia produce extracellular vesicles (EVs) which are enriched in a set of miRNAs that regulate the expression of key synaptic proteins. Read More

    A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
    Acta Neuropathol 2018 Jan 4. Epub 2018 Jan 4.
    Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, 3000, Leuven, Belgium.
    The exact mechanism underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) associated with the GGGGCC repeat expansion in C9orf72 is still unclear. Two gain-of-function mechanisms are possible: repeat RNA toxicity and dipeptide repeat protein (DPR) toxicity. We here dissected both possibilities using a zebrafish model for ALS. Read More

    Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration.
    Acta Neuropathol 2018 Jan 3. Epub 2018 Jan 3.
    Institut NeuroMyogène, Equipe Synaptopathies et Autoanticorps (SynatAc), INSERM U1217/UMR CRS 5310, Lyon, France.
    Paraneoplastic cerebellar degenerations with anti-Yo antibodies (Yo-PCD) are rare syndromes caused by an auto-immune response against neuronal antigens (Ags) expressed by tumor cells. However, the mechanisms responsible for such immune tolerance breakdown are unknown. We characterized 26 ovarian carcinomas associated with Yo-PCD for their tumor immune contexture and genetic status of the 2 onconeural Yo-Ags, CDR2 and CDR2L. Read More

    Functional requirement of a wild-type allele for mutant IDH1 to suppress anchorage-independent growth through redox homeostasis.
    Acta Neuropathol 2017 Dec 29. Epub 2017 Dec 29.
    Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, 175 North Medical Drive East, Salt Lake City, UT, 84132, USA.
    Mutations of isocitrate dehydrogenase 1 (IDH1) gene are most common in glioma, arguably preceding all known genetic alterations during tumor development. IDH1 mutations nearly invariably target the enzymatic active site Arg132, giving rise to the predominant IDH1R132H. Cells harboring IDH1 R132H -heterozygous mutation produce 2-hydroxyglutarate (2-HG), which results in histone and DNA hypermethylation. Read More

    Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis.
    Acta Neuropathol 2017 Dec 22. Epub 2017 Dec 22.
    Centre for Discovery Brain Sciences, The University of Edinburgh, Edinburgh, Scotland, UK.
    In addition to motor neurone degeneration, up to 50% of amyotrophic lateral sclerosis (ALS) patients present with cognitive decline. Understanding the neurobiological changes underlying these cognitive deficits is critical, as cognitively impaired patients exhibit a shorter survival time from symptom onset. Given the pathogenic role of synapse loss in other neurodegenerative diseases in which cognitive decline is apparent, such as Alzheimer's disease, we aimed to assess synaptic integrity in the ALS brain. Read More

    Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.
    Acta Neuropathol 2017 Dec 21. Epub 2017 Dec 21.
    Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.
    Mitochondrial complex I deficiency occurs in the substantia nigra of individuals with Parkinson's disease. It is generally believed that this phenomenon is caused by accumulating mitochondrial DNA damage in neurons and that it contributes to the process of neurodegeneration. We hypothesized that if these theories are correct, complex I deficiency should extend beyond the substantia nigra to other affected brain regions in Parkinson's disease and correlate tightly with neuronal mitochondrial DNA damage. Read More

    Distinguishing features of microglia- and monocyte-derived macrophages after stroke.
    Acta Neuropathol 2017 Dec 16. Epub 2017 Dec 16.
    Center for Stroke Research, Klinik für Neurologie, and Department of Experimental Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
    After stroke, macrophages in the ischemic brain may be derived from either resident microglia or infiltrating monocytes. Using bone marrow (BM)-chimerism and dual-reporter transgenic fate mapping, we here set out to delimit the responses of either cell type to mild brain ischemia in a mouse model of 30 min transient middle cerebral artery occlusion (MCAo). A discriminatory analysis of gene expression at 7 days post-event yielded 472 transcripts predominantly or exclusively expressed in blood-derived macrophages as well as 970 transcripts for microglia. Read More

    Spread of aggregates after olfactory bulb injection of α-synuclein fibrils is associated with early neuronal loss and is reduced long term.
    Acta Neuropathol 2018 Jan 5;135(1):65-83. Epub 2017 Dec 5.
    Center for Neurodegenerative Science, Van Andel Research Institute, 333 Bostwick Avenue N.E., Grand Rapids, MI, 49503, USA.
    Parkinson's disease is characterized by degeneration of substantia nigra dopamine neurons and by intraneuronal aggregates, primarily composed of misfolded α-synuclein. The α-synuclein aggregates in Parkinson's patients are suggested to first appear in the olfactory bulb and enteric nerves and then propagate, following a stereotypic pattern, via neural pathways to numerous regions across the brain. We recently demonstrated that after injection of either mouse or human α-synuclein fibrils into the olfactory bulb of wild-type mice, α-synuclein fibrils recruited endogenous α-synuclein into pathological aggregates that spread transneuronally to over 40 other brain regions and subregions, over 12 months. Read More

    Neuropathology of iatrogenic Creutzfeldt-Jakob disease and immunoassay of French cadaver-sourced growth hormone batches suggest possible transmission of tauopathy and long incubation periods for the transmission of Abeta pathology.
    Acta Neuropathol 2017 Nov 22. Epub 2017 Nov 22.
    Inserm U1127, CNRS UMR 7225, UPMC Univ Paris VI UMR S 1127, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, 47 boulevard de l'Hôpital, 75013, Paris, France.
    Abeta deposits and tau pathology were investigated in 24 French patients that died from iatrogenic Creutzfeldt-Jakob disease after exposure to cadaver-derived human growth hormone (c-hGH) in the 1980s. Abeta deposits were found only in one case that had experienced one of the longest incubation periods. Three cases had also intracellular tau accumulation. Read More

    Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.
    Acta Neuropathol 2017 Dec 1. Epub 2017 Dec 1.
    Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA, 92093-0624, USA.
    Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (C9 ALS). The main hypothesized pathogenic mechanisms are C9orf72 haploinsufficiency and/or toxicity from one or more of bi-directionally transcribed repeat RNAs and their dipeptide repeat proteins (DPRs) poly-GP, poly-GA, poly-GR, poly-PR and poly-PA. Recently, nuclear import and/or export defects especially caused by arginine-containing poly-GR or poly-PR have been proposed as significant contributors to pathogenesis based on disease models. Read More

    Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition.
    Acta Neuropathol 2018 Jan 24;135(1):85-93. Epub 2017 Nov 24.
    Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA.
    There is an urgent need for identifying nondemented individuals at the highest risk of progressing to Alzheimer's disease (AD) dementia. Here, we evaluated whether a recently validated polygenic hazard score (PHS) can be integrated with known in vivo cerebrospinal fluid (CSF) or positron emission tomography (PET) biomarkers of amyloid, and CSF tau pathology to prospectively predict cognitive and clinical decline in 347 cognitive normal (CN; baseline age range = 59.7-90. Read More

    The function of the cellular prion protein in health and disease.
    Acta Neuropathol 2017 Nov 18. Epub 2017 Nov 18.
    Department of Biochemistry, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Krembil Discovery Tower, Rm. 4KD481, 60 Leonard Ave., Toronto, ON, M5T 2S8, Canada.
    The essential role of the cellular prion protein (PrPC) in prion disorders such as Creutzfeldt-Jakob disease is well documented. Moreover, evidence is accumulating that PrPC may act as a receptor for protein aggregates and transduce neurotoxic signals in more common neurodegenerative disorders, such as Alzheimer's disease. Although the pathological roles of PrPC have been thoroughly characterized, a general consensus on its physiological function within the brain has not yet been established. Read More

    Parkinson's disease: experimental models and reality.
    Acta Neuropathol 2018 Jan 18;135(1):13-32. Epub 2017 Nov 18.
    Neuropathology Laboratory, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
    Parkinson's disease (PD) is a chronic, progressive movement disorder of adults and the second most common neurodegenerative disease after Alzheimer's disease. Neuropathologic diagnosis of PD requires moderate-to-marked neuronal loss in the ventrolateral substantia nigra pars compacta and α-synuclein (αS) Lewy body pathology. Nigrostriatal dopaminergic neurodegeneration correlates with the Parkinsonian motor features, but involvement of other peripheral and central nervous system regions leads to a wide range of non-motor features. Read More

    Changes in chromatin state reveal ARNT2 at a node of a tumorigenic transcription factor signature driving glioblastoma cell aggressiveness.
    Acta Neuropathol 2017 Nov 17. Epub 2017 Nov 17.
    CNRS UMR8246, Inserm U1130, Neuroscience Paris Seine-IBPS, UPMC, Sorbonne Universités, Paris, France.
    Although a growing body of evidence indicates that phenotypic plasticity exhibited by glioblastoma cells plays a central role in tumor development and post-therapy recurrence, the master drivers of their aggressiveness remain elusive. Here we mapped the changes in active (H3K4me3) and repressive (H3K27me3) histone modifications accompanying the repression of glioblastoma stem-like cells tumorigenicity. Genes with changing histone marks delineated a network of transcription factors related to cancerous behavior, stem state, and neural development, highlighting a previously unsuspected association between repression of ARNT2 and loss of cell tumorigenicity. Read More

    Co-occurrence of mixed proteinopathies in late-stage Huntington's disease.
    Acta Neuropathol 2017 Nov 13. Epub 2017 Nov 13.
    Axe Neurosciences, Centre de recherche du CHU de Québec-Université Laval, CHUL, 2705 Boul. Laurier, P0-9800, Québec, QC, G1V 4G2, Canada.
    Accumulating evidence highlights the potential role of mixed proteinopathies (i.e., abnormal protein aggregation) in the development of clinical manifestations of neurodegenerative diseases (NDD). Read More

    Artificial intelligence in neurodegenerative disease research: use of IBM Watson to identify additional RNA-binding proteins altered in amyotrophic lateral sclerosis.
    Acta Neuropathol 2017 Nov 13. Epub 2017 Nov 13.
    Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.
    Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no effective treatments. Numerous RNA-binding proteins (RBPs) have been shown to be altered in ALS, with mutations in 11 RBPs causing familial forms of the disease, and 6 more RBPs showing abnormal expression/distribution in ALS albeit without any known mutations. RBP dysregulation is widely accepted as a contributing factor in ALS pathobiology. Read More

    Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
    Acta Neuropathol 2018 Jan 7;135(1):95-113. Epub 2017 Nov 7.
    Translational Neuroscience Facility and Department of Physiology, School of Medical Sciences, UNSW Sydney, Sydney, NSW, 2052, Australia.
    N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. Read More

    Cofactors influence the biological properties of infectious recombinant prions.
    Acta Neuropathol 2017 Nov 1. Epub 2017 Nov 1.
    CIC bioGUNE, Parque tecnológico de Bizkaia, 48160, Derio, Bizkaia, Spain.
    Prion diseases are caused by a misfolding of the cellular prion protein (PrP) to a pathogenic isoform named PrPSc. Prions exist as strains, which are characterized by specific pathological and biochemical properties likely encoded in the three-dimensional structure of PrPSc. However, whether cofactors determine these different PrPSc conformations and how this relates to their specific biological properties is largely unknown. Read More

    Diffuse midline gliomas with subclonal H3F3A K27M mutation and mosaic H3.3 K27M mutant protein expression.
    Acta Neuropathol 2017 Dec 23;134(6):961-963. Epub 2017 Oct 23.
    Division of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, Box 0102, San Francisco, CA, 94143, USA.

    Multiple system atrophy: experimental models and reality.
    Acta Neuropathol 2018 Jan 20;135(1):33-47. Epub 2017 Oct 20.
    Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093-0624, USA.
    Multiple system atrophy (MSA) is a rapidly progressing fatal synucleinopathy of the aging population characterized by parkinsonism, dysautonomia, and in some cases ataxia. Unlike other synucleinopathies, in this disorder the synaptic protein, α-synuclein (α-syn), predominantly accumulates in oligodendroglial cells (and to some extent in neurons), leading to maturation defects of oligodendrocytes, demyelination, and neurodegeneration. The mechanisms through which α-syn deposits occur in oligodendrocytes and neurons in MSA are not completely clear. Read More

    Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
    Acta Neuropathol 2018 Jan 20;135(1):115-129. Epub 2017 Oct 20.
    Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
    Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. Read More

    Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.
    Acta Neuropathol 2018 Jan 19;135(1):155-156. Epub 2017 Oct 19.
    Discipline of Biomedical Science and Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, NSW, 2006, Australia.


    Does Parkinson's disease start in the gut?
    Acta Neuropathol 2018 Jan 16;135(1):1-12. Epub 2017 Oct 16.
    Banner Sun Health Research Institute, Sun City, AZ, 85351, USA.
    Parkinson's disease (PD) is pathologically characterized by the presence of intraneuronal inclusions, termed Lewy bodies and Lewy neurites, whose main component is alpha-synuclein. Based on the topographic distribution of Lewy bodies and neurites established after autopsy from PD patients, Braak and coworkers hypothesized that PD pathology may start in the gastrointestinal tract then spread through the vagus nerve to the brain. This hypothesis has been reinforced by the discovery that alpha-synuclein may be capable of spreading transcellularly, thereby providing a mechanistic basis for Braak's hypothesis. Read More


    Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
    Acta Neuropathol 2017 Dec 13;134(6):905-922. Epub 2017 Oct 13.
    Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
    In search of novel germline alterations predisposing to tumors, in particular to gliomas, we studied a family with two brothers affected by anaplastic gliomas, and their father and paternal great-uncle diagnosed with prostate carcinoma. In this family, whole-exome sequencing yielded rare, simultaneously heterozygous variants in the Aicardi-Goutières syndrome (AGS) genes ADAR and RNASEH2B co-segregating with the tumor phenotype. AGS is a genetically induced inflammatory disease particularly of the brain, which has not been associated with a consistently increased cancer risk to date. Read More

    DNA-methylation profiling discloses significant advantages over NanoString method for molecular classification of medulloblastoma.
    Acta Neuropathol 2017 Dec 13;134(6):965-967. Epub 2017 Oct 13.
    German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany.

    The neuroprotective transcription factor ATF5 is decreased and sequestered into polyglutamine inclusions in Huntington's disease.
    Acta Neuropathol 2017 Dec 31;134(6):839-850. Epub 2017 Aug 31.
    Centro de Biología Molecular Severo Ochoa (CBMSO) CSIC/UAM, Madrid, Spain.
    Activating transcription factor-5 (ATF5) is a stress-response transcription factor induced upon different cell stressors like fasting, amino-acid limitation, cadmium or arsenite. ATF5 is also induced, and promotes transcription of anti-apoptotic target genes like MCL1, during the unfolded protein response (UPR) triggered by endoplasmic reticulum stress. In the brain, high ATF5 levels are found in gliomas and also in neural progenitor cells, which need to decrease their ATF5 levels for differentiation into mature neurons or glia. Read More

    Distinct molecular profile of diffuse cerebellar gliomas.
    Acta Neuropathol 2017 Dec 29;134(6):941-956. Epub 2017 Aug 29.
    Department of Neurosurgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
    Recent studies have demonstrated that tumor-driving alterations are often different among gliomas that originated from different brain regions and have underscored the importance of analyzing molecular characteristics of gliomas stratified by brain region. Therefore, to elucidate molecular characteristics of diffuse cerebellar gliomas (DCGs), 27 adult, mostly glioblastoma cases were analyzed. Comprehensive analysis using whole-exome sequencing, RNA sequencing, and Infinium methylation array (n = 17) demonstrated their distinct molecular profile compared to gliomas in other brain regions. Read More

    MSA prions exhibit remarkable stability and resistance to inactivation.
    Acta Neuropathol 2018 Jan 28;135(1):49-63. Epub 2017 Aug 28.
    Institute for Neurodegenerative Diseases, Weill Institute for Neurosciences, University of California, 675 Nelson Rising Lane, San Francisco, CA, 94158, USA.
    In multiple system atrophy (MSA), progressive neurodegeneration results from the protein α-synuclein misfolding into a self-templating prion conformation that spreads throughout the brain. MSA prions are transmissible to transgenic (Tg) mice expressing mutated human α-synuclein (TgM83+/-), inducing neurological disease following intracranial inoculation with brain homogenate from deceased patient samples. Noting the similarities between α-synuclein prions and PrP scrapie (PrPSc) prions responsible for Creutzfeldt-Jakob disease (CJD), we investigated MSA transmission under conditions known to result in PrPSc transmission. Read More



    The 2017 World Health Organization classification of tumors of the pituitary gland: a summary.
    Acta Neuropathol 2017 Oct 18;134(4):521-535. Epub 2017 Aug 18.
    Departments of Pathology and Neurological Surgery, University of Virginia School of Medicine, 1215 Lee Street-Room 3060-HEP, Charlottesville, VA, 22908-0214, USA.
    The 4th edition of the World Health Organization (WHO) classification of endocrine tumors has been recently released. In this new edition, major changes are recommended in several areas of the classification of tumors of the anterior pituitary gland (adenophypophysis). The scope of the present manuscript is to summarize these recommended changes, emphasizing a few significant topics. Read More

    Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.
    Acta Neuropathol 2017 Nov 14;134(5):715-728. Epub 2017 Aug 14.
    Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
    We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementary methylome data and combine these two data sets to perform a comprehensive "multi-omic" analysis to clarify the molecular mechanisms initiating RNA misregulation in ALS. We found that c9ALS and sALS patients have generally distinct but overlapping methylome profiles, and that the c9ALS- and sALS-affected genes and pathways have similar biological functions, indicating conserved pathobiology in disease. Read More

    Alpha-synuclein oligomers: a new hope.
    Acta Neuropathol 2017 Dec 12;134(6):819-838. Epub 2017 Aug 12.
    Department of Physiology, Anatomy and Genetics, Oxford Parkinson's Disease Centre, University of Oxford, South Parks Road, Oxford, OX1 3QT, UK.
    Alpha-synuclein is a protein implicated in Parkinson's disease and thought to be one of the main pathological drivers in the disease, although it remains unclear how this protein elicits its neurotoxic effects. Recent findings indicate that the assembly of toxic oligomeric species of alpha-synuclein may be one of the key processes for the pathology and spread of the disease. The absence of a sensitive in situ detection method has hindered the study of these oligomeric species and the role they play in the human brain until recently. Read More

    A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
    Acta Neuropathol 2018 Jan 5;135(1):131-148. Epub 2017 Aug 5.
    Peripheral Neuropathy Research Group, Department of Biomedical Sciences and Institute Born Bunge, University of Antwerp, Universiteitsplein 1, 2610, Antwerpen, Belgium.
    Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis lies behind these diseases. Growing evidence points towards a role of HSPB8 in chaperone-associated autophagy, which has been shown to be a determinant for the clearance of poly-glutamine aggregates in neurodegenerative diseases but also for the maintenance of skeletal muscle myofibrils. Read More

    Angiocentric glioma with MYB-QKI fusion located in the brainstem, rather than cerebral cortex.
    Acta Neuropathol 2017 Oct 3;134(4):671-673. Epub 2017 Aug 3.
    Department of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.

    RNAi screen identifies essential regulators of human brain metastasis-initiating cells.
    Acta Neuropathol 2017 Dec 1;134(6):923-940. Epub 2017 Aug 1.
    MDCL 5027, Stem Cell and Cancer Research Institute, McMaster University, 1280 Main Street West, Hamilton, ON, L8S 4K1, Canada.
    Brain metastases (BM) are the most common brain tumor in adults and are a leading cause of cancer mortality. Metastatic lesions contain subclones derived from their primary lesion, yet their functional characterization is limited by a paucity of preclinical models accurately recapitulating the metastatic cascade, emphasizing the need for a novel approach to BM and their treatment. We identified a unique subset of stem-like cells from primary human patient brain metastases, termed brain metastasis-initiating cells (BMICs). Read More

    The choroid plexus is a key cerebral invasion route for T cells after stroke.
    Acta Neuropathol 2017 Dec 31;134(6):851-868. Epub 2017 Jul 31.
    Institute for Stroke and Dementia Research, Klinikum der Universität München, Feodor-Lynen-Str. 17, 81377, Munich, Germany.
    Neuroinflammation contributes substantially to stroke pathophysiology. Cerebral invasion of peripheral leukocytes-particularly T cells-has been shown to be a key event promoting inflammatory tissue damage after stroke. While previous research has focused on the vascular invasion of T cells into the ischemic brain, the choroid plexus (ChP) as an alternative cerebral T-cell invasion route after stroke has not been investigated. Read More

    Muscle satellite cells are functionally impaired in myasthenia gravis: consequences on muscle regeneration.
    Acta Neuropathol 2017 Dec 29;134(6):869-888. Epub 2017 Jul 29.
    Sorbonne Universités, UPMC Université Paris 6, Paris, France.
    Myasthenia gravis (MG) is a neuromuscular disease caused in most cases by anti-acetyl-choline receptor (AChR) autoantibodies that impair neuromuscular signal transmission and affect skeletal muscle homeostasis. Myogenesis is carried out by muscle stem cells called satellite cells (SCs). However, myogenesis in MG had never been explored. Read More

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