Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes
Four molecular types of rare central nervous system (CNS) tumors have been recently identified by gene methylation profiling: CNS Neuroblastoma with FOXR2 activation (CNS NB-FOXR2), CNS Ewing Sarcoma Family Tumor...Acta Neuropathologica Communications 2020 8:105- Acta Neuropathologica Communications 2020 8:104
Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies
Neurons of the nucleus basalis of Meynert (nbM) are vulnerable to Lewy body formation and neuronal loss, which is thought to underlie cognitive dysfunction in Lewy body dementia (LBD). There is continued debat...Acta Neuropathologica Communications 2020 8:103Erythrocytic α-synuclein contained in microvesicles regulates astrocytic glutamate homeostasis: a new perspective on Parkinson’s disease pathogenesis
Parkinson’s disease is a neurodegenerative disorder characterized by the transmission and accumulation of toxic species of α-synuclein (α-syn). Extracellular vesicles (EVs) are believed to play a vital role in...Acta Neuropathologica Communications 2020 8:102High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma
We report a novel group of clinically aggressive spinal cord ependymomas characterized by Grade III histology, MYCN amplification, an absence of NF2 alterations or other recurrent pathogenic mutations, and a uniq...Acta Neuropathologica Communications 2020 8:101- Acta Neuropathologica Communications 2020 8:100
Disturbed balance in the expression of MMP9 and TIMP3 in cerebral amyloid angiopathy-related intracerebral haemorrhage
Cerebral amyloid angiopathy (CAA) is characterized by the deposition of the amyloid β (Aβ) protein in the cerebral vasculature and poses a major risk factor for the development of intracerebral haemorrhages (I...Acta Neuropathologica Communications 2020 8:99Quantitative patterns of motor cortex proteinopathy across ALS genotypes
Degeneration of the primary motor cortex is a defining feature of amyotrophic lateral sclerosis (ALS), which is associated with the accumulation of microscopic protein aggregates in neurons and glia. However, ...Acta Neuropathologica Communications 2020 8:98Excess Rab4 rescues synaptic and behavioral dysfunction caused by defective HTT-Rab4 axonal transport in Huntington’s disease
Huntington’s disease (HD) is characterized by protein inclusions and loss of striatal neurons which result from expanded CAG repeats in the poly-glutamine (polyQ) region of the huntingtin (HTT) gene. Both polyQ e...Acta Neuropathologica Communications 2020 8:97Fyn kinase inhibition reduces protein aggregation, increases synapse density and improves memory in transgenic and traumatic Tauopathy
Accumulation of misfolded phosphorylated Tau (Tauopathy) can be triggered by mutations or by trauma, and is associated with synapse loss, gliosis, neurodegeneration and memory deficits. Fyn kinase physically a...Acta Neuropathologica Communications 2020 8:96Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases
Diffuse leptomeningeal glioneuronal tumor (DLGNT) was introduced, for the first time, as a provisional entity in the 2016 WHO classification of central nervous system tumors. DLGNT mainly occur in children and...Acta Neuropathologica Communications 2020 8:95- Acta Neuropathologica Communications 2020 8:94
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause...Acta Neuropathologica Communications 2020 8:93Global alterations to the choroid plexus blood-CSF barrier in amyotrophic lateral sclerosis
The choroid plexus (CP) is a highly vascularized structure located in the ventricles that forms the blood-CSF barrier (BCSFB) and separates the blood from the cerebrospinal fluid (CSF). In addition to its role...Acta Neuropathologica Communications 2020 8:92RBM45 associates with nuclear stress bodies and forms nuclear inclusions during chronic cellular stress and in neurodegenerative diseases
The RNA binding protein (RBP) RBM45 forms nuclear and cytoplasmic inclusions in neurons and glia in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP), ...Acta Neuropathologica Communications 2020 8:91Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy
An amendment to this paper has been published and can be accessed via the original article.Acta Neuropathologica Communications 2020 8:90The original article was published in Acta Neuropathologica Communications 2020 8:72Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome
Enlarged early endosomes have been visualized in Alzheimer’s disease (AD) and Down syndrome (DS) using conventional confocal microscopy at a resolution corresponding to endosomal size (hundreds of nm). In orde...Acta Neuropathologica Communications 2020 8:89Tau Ser208 phosphorylation promotes aggregation and reveals neuropathologic diversity in Alzheimer’s disease and other tauopathies
Tau protein abnormally aggregates in tauopathies, a diverse group of neurologic diseases that includes Alzheimer’s disease (AD). In early stages of disease, tau becomes hyperphosphorylated and mislocalized, wh...Acta Neuropathologica Communications 2020 8:88A novel Cas9-targeted long-read assay for simultaneous detection of IDH1/2 mutations and clinically relevant MGMT methylation in fresh biopsies of diffuse glioma
Molecular biomarkers provide both diagnostic and prognostic results for patients with diffuse glioma, the most common primary brain tumor in adults. Here, we used a long-read nanopore-based sequencing techniqu...Acta Neuropathologica Communications 2020 8:87Phosphorylation and oligomerization of α-synuclein associated with GSK-3β activation in the rTg4510 mouse model of tauopathy
Neurodegenerative diseases are characterized by the accumulation of specific phosphorylated protein aggregates in the brain, such as hyperphosphorylated tau (hp-tau) in tauopathies and phosphorylated α-synucle...Acta Neuropathologica Communications 2020 8:86A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease
One of remarkable features of sporadic Creutzfeldt-Jakob disease (sCJD) is the great phenotypic variability. Understanding the molecular basis of this variability has important implications for the development...Acta Neuropathologica Communications 2020 8:85Transplantation of induced neural stem cells (iNSCs) into chronically demyelinated corpus callosum ameliorates motor deficits
Multiple Sclerosis (MS) causes neurologic disability due to inflammation, demyelination, and neurodegeneration. Immunosuppressive treatments can modify the disease course but do not effectively promote remyeli...Acta Neuropathologica Communications 2020 8:84Transmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes
In the human prion disease Creutzfeldt-Jakob disease (CJD), different CJD neuropathological subtypes are defined by the presence in normal prion protein (PrPC) of a methionine or valine at residue 129, by the mol...Acta Neuropathologica Communications 2020 8:83DNA methylation profiling demonstrates superior diagnostic classification to RNA-sequencing in a case of metastatic meningioma
Meningiomas are the most common primary intracranial tumors, but meningioma metastases are rare. Accordingly, the clinical workup, diagnostic testing, and molecular classification of metastatic meningioma is i...Acta Neuropathologica Communications 2020 8:82Characterization of the TNF and IL-1 systems in human brain and blood after ischemic stroke
Preclinical and clinical proof-of-concept studies have suggested the effectiveness of pharmacological modulation of inflammatory cytokines in ischemic stroke. Experimental evidence shows that targeting tumor n...Acta Neuropathologica Communications 2020 8:81Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
BCOR has been recognized as a recurrently altered gene in a subset of pediatric tumors of the central nervous system (CNS). Here, we describe a novel BCOR-CREBBP fusion event in a case of pediatric infiltrating a...Acta Neuropathologica Communications 2020 8:80The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer’s disease
Synaptojanin 1 (SYNJ1) is a brain-enriched lipid phosphatase critically involved in autophagosomal/endosomal trafficking, synaptic vesicle recycling and metabolism of phosphoinositides. Previous studies sugges...Acta Neuropathologica Communications 2020 8:79Cerebrospinal fluid penetration of targeted therapeutics in pediatric brain tumor patients
Treatment with small-molecule inhibitors, guided by precision medicine has improved patient outcomes in multiple cancer types. However, these compounds are often not effective against central nervous system (C...Acta Neuropathologica Communications 2020 8:78No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington’s disease
Prominent features of HD neuropathology are the intranuclear and cytoplasmic inclusions of huntingtin and striatal and cortical neuronal cell death. Recently, synaptic defects have been reported on HD-related ...Acta Neuropathologica Communications 2020 8:77Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease
Multiple system atrophy (MSA) is a rare adult-onset neurodegenerative disease of unknown cause, with no effective therapeutic options, and no cure. Limited work to date has attempted to characterize the transc...Acta Neuropathologica Communications 2020 8:76- Acta Neuropathologica Communications 2020 8:75
Humanized tau antibodies promote tau uptake by human microglia without any increase of inflammation
Immunotherapies targeting pathological tau have recently emerged as a promising approach for treatment of neurodegenerative disorders. We have previously showed that the mouse antibody DC8E8 discriminates betw...Acta Neuropathologica Communications 2020 8:74Meningomyeloencephalitis secondary to Mycobacterium haemophilum infection in AIDS
Infections by opportunistic non-tuberculous mycobacteria (NTM) are rising in global incidence. One emerging, slowly growing NTM is Mycobacterium haemophilum, which can cause skin, lung, bone, and soft tissue infe...Acta Neuropathologica Communications 2020 8:73Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy
Microglia are resident macrophages of the central nervous system, and their unique molecular signature is dependent upon CSF-1 signaling. Previous studies have demonstrated the importance of CSF-1R in survival...Acta Neuropathologica Communications 2020 8:72The Correction to this article has been published in Acta Neuropathologica Communications 2020 8:90- Acta Neuropathologica Communications 2020 8:71
Restoration of miR-193a expression is tumor-suppressive in MYC amplified Group 3 medulloblastoma
Medulloblastoma, a highly malignant pediatric brain tumor, consists of four molecular subgroups, namely WNT, SHH, Group 3, and Group 4. The expression of miR-193a, a WNT subgroup-specific microRNA, was found t...Acta Neuropathologica Communications 2020 8:70Correction to: Differential gene methylation and expression of HOX transcription factor family in orbitofacial neurofibroma
An amendment to this paper has been published and can be accessed via the original article.Acta Neuropathologica Communications 2020 8:69The original article was published in Acta Neuropathologica Communications 2020 8:62Transcriptional analyses of adult and pediatric adamantinomatous craniopharyngioma reveals similar expression signatures regarding potential therapeutic targets
Adamantinomatous craniopharyngioma (ACP) is a biologically benign but clinically aggressive lesion that has a significant impact on quality of life. The incidence of the disease has a bimodal distribution, wit...Acta Neuropathologica Communications 2020 8:68Behavioral and electrophysiological evidence for a neuroprotective role of aquaporin-4 in the 5xFAD transgenic mice model
Aquaporin-4 (AQP4) has been suggested to be involved in the pathogenesis of neurodegenerative diseases including Alzheimer’s disease (AD), which may be due to the modulation of neuroinflammation or the impairm...Acta Neuropathologica Communications 2020 8:67Persistent elevation of intrathecal pro-inflammatory cytokines leads to multiple sclerosis-like cortical demyelination and neurodegeneration
Analysis of isolated meninges and cerebrospinal fluid (CSF) of post-mortem MS cases has shown increased gene and protein expression for the pro-inflammatory cytokines: tumour necrosis factor (TNF) and interfer...Acta Neuropathologica Communications 2020 8:66Transmission of ALS pathogenesis by the cerebrospinal fluid
To test the hypothesis that the cerebrospinal fluid (CSF) could provide a spreading route for pathogenesis of amyotrophic lateral sclerosis (ALS), we have examined the effects of intraventricular infusion duri...Acta Neuropathologica Communications 2020 8:65RNA modifications in brain tumorigenesis
RNA modifications are emerging as critical regulators in cancer biology, thanks to their ability to influence gene expression and the predominant protein isoforms expressed during cell proliferation, migration...Acta Neuropathologica Communications 2020 8:64Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson’s disease pathogenesis
Parkinson’s disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically characterized by parkinsonism, with the latter presenting additionally a distinctive range of atypical features. Although ...Acta Neuropathologica Communications 2020 8:63Differential gene methylation and expression of HOX transcription factor family in orbitofacial neurofibroma
Although most commonly benign, neurofibromas (NFs) can have devastating functional and cosmetic effects in addition to the possibility of malignant transformation. In orbitofacial neurofibromatosis type 1, NFs...Acta Neuropathologica Communications 2020 8:62Distinct molecular patterns of TDP-43 pathology in Alzheimer’s disease: relationship with clinical phenotypes
The co-existence of multiple pathologies and proteins is a common feature in the brains of cognitively impaired elderly individuals. Transactive response DNA-binding protein (TDP-43) has been discovered to acc...Acta Neuropathologica Communications 2020 8:61Association of Aβ with ceramide-enriched astrosomes mediates Aβ neurotoxicity
Amyloid-β (Aβ) associates with extracellular vesicles termed exosomes. It is not clear whether and how exosomes modulate Aβ neurotoxicity in Alzheimer’s disease (AD). We show here that brain tissue and serum f...Acta Neuropathologica Communications 2020 8:60
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