Lipid-specific IgMs induce antiviral responses in the CNS: implications for progressive multifocal leukoencephalopathy in multiple sclerosis
Progressive multi-focal leukoencephalopathy (PML) is a potentially fatal encephalitis caused by JC polyomavirus (JCV). PML principally affects people with a compromised immune system, such as patients with mul...Acta Neuropathologica Communications 2020 8:135- Acta Neuropathologica Communications 2020 8:134
Prominent microglial inclusions in transgenic mouse models of α-synucleinopathy that are distinct from neuronal lesions
Alpha-synucleinopathies are a group of progressive neurodegenerative disorders, characterized by intracellular deposits of aggregated α-synuclein (αS). The clinical heterogeneity of these diseases is thought t...Acta Neuropathologica Communications 2020 8:133P53 aggregation, interactions with tau, and impaired DNA damage response in Alzheimer’s disease
The transcription factor, p53, is critical for many important cellular functions involved in genome integrity, including cell cycle control, DNA damage response, and apoptosis. Disruption of p53 results in a w...Acta Neuropathologica Communications 2020 8:132Demonstrating a reduced capacity for removal of fluid from cerebral white matter and hypoxia in areas of white matter hyperintensity associated with age and dementia
White matter hyperintensities (WMH) occur in association with dementia but the aetiology is unclear. Here we test the hypothesis that there is a combination of impaired elimination of interstitial fluid from t...Acta Neuropathologica Communications 2020 8:131Co-expression of NMDA-receptor subunits NR1, NR2A, and NR2B in dysplastic neurons of teratomas in patients with paraneoplastic NMDA-receptor-encephalitis: a retrospective clinico-pathology study of 159 patients
To comprehensively describe the pathological features of neurons in patients with ovarian teratomas and paraneoplastic anti-NMDAR encephalitis (anti-NMDARE), emphasizing on NMDA-receptor expression and infiltr...Acta Neuropathologica Communications 2020 8:130Microglia depletion diminishes key elements of the leukotriene pathway in the brain of Alzheimer’s Disease mice
Leukotrienes (LTs) contribute to the neuropathology of chronic neurodegenerative disorders including Alzheimer’s Disease (AD), where they mediate neuroinflammation and neuronal cell-death. In consequence, bloc...Acta Neuropathologica Communications 2020 8:129Clinical, radiological and molecular characterization of intramedullary astrocytomas
Intramedullary astrocytomas (IMAs) are rare tumors, and few studies specific to the molecular alterations of IMAs have been performed. Recently, KIAA1549-BRAF fusions and the H3F3A p.K27M mutation have been descr...Acta Neuropathologica Communications 2020 8:128Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity
Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of β-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson’s di...Acta Neuropathologica Communications 2020 8:127Intramuscular injection of vectorized-scFvMC1 reduces pathological tau in two different tau transgenic models
With evidence supporting the prion-like spreading of extracellular tau as a mechanism for the initiation and progression of Alzheimer’s disease (AD), immunotherapy has emerged as a potential disease-modifying ...Acta Neuropathologica Communications 2020 8:126Distinct tissue injury patterns in juvenile dermatomyositis auto-antibody subgroups
Juvenile dermatomyositis (JDM) can be classified into clinical serological subgroups by distinct myositis-specific antibodies (MSAs). It is incompletely understood whether different MSAs are associated with di...Acta Neuropathologica Communications 2020 8:125A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology
Recent updates in the classification of central nervous system (CNS) tumors have increased the need for molecular testing. Assessment of multiple alterations in parallel, complex combinations of gene sequence ...Acta Neuropathologica Communications 2020 8:124Correction to: Brain-derived exosomes from dementia with Lewy bodies propagate α-synuclein pathology
An amendment to this paper has been published and can be accessed via the original article.Acta Neuropathologica Communications 2020 8:123The original article was published in Acta Neuropathologica Communications 2017 5:46The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD
An intronic hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This repeat is thought to elicit toxicity through RNA med...Acta Neuropathologica Communications 2020 8:122Correction to: Different aspects of Alzheimer’s disease-related amyloid β-peptide pathology and their relationship to amyloid positron emission tomography imaging and dementia
An amendment to this paper has been published and can be accessed via the original article.Acta Neuropathologica Communications 2020 8:121The original article was published in Acta Neuropathologica Communications 2019 7:178BCAS1-positive immature oligodendrocytes are affected by the α-synuclein-induced pathology of multiple system atrophy
Multiple system atrophy (MSA) is pathologically characterized by the presence of fibrillar α-synuclein-immunoreactive inclusions in oligodendrocytes. Although the myelinating process of oligodendrocytes can be...Acta Neuropathologica Communications 2020 8:120Different effects of constitutive and induced microbiota modulation on microglia in a mouse model of Alzheimer’s disease
It was recently revealed that gut microbiota promote amyloid-beta (Aβ) burden in mouse models of Alzheimer’s disease (AD). However, the underlying mechanisms when using either germ-free (GF) housing conditions...Acta Neuropathologica Communications 2020 8:119Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer’s-like mouse models
The deposition of neurotoxic amyloid-β (Aβ) peptides in extracellular plaques in the brain parenchyma is one of the most prominent neuropathological features of Alzheimer’s disease (AD), and considered to be c...Acta Neuropathologica Communications 2020 8:118Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids
Tissue accumulation of abnormal aggregates of amyloidogenic proteins such as prion protein, α-synuclein, and tau represents the hallmark of most common neurodegenerative disorders and precedes the onset of sym...Acta Neuropathologica Communications 2020 8:117Loss of Tdp-43 disrupts the axonal transcriptome of motoneurons accompanied by impaired axonal translation and mitochondria function
Protein inclusions containing the RNA-binding protein TDP-43 are a pathological hallmark of amyotrophic lateral sclerosis and other neurodegenerative disorders. The loss of TDP-43 function that is associated w...Acta Neuropathologica Communications 2020 8:116A dual-genotype oligoastrocytoma with histologic, molecular, radiological and time-course features
A case of a true dual-genotype IDH-mutant oligoastrocytoma with two different cell types within a single mass in a young woman is presented. Imaging findings of the left frontal infiltrating glioma predicted the ...Acta Neuropathologica Communications 2020 8:115Meningioma cells express primary cilia but do not transduce ciliary Hedgehog signals
Meningiomas are the most common primary intracranial tumors, but treatment options for meningioma patients are limited due to incomplete understanding of tumor biology. A small percentage of meningiomas harbor...Acta Neuropathologica Communications 2020 8:114Orbital Rosai-Dorfman disease initially diagnosed as IgG4-related disease: a case report
Inflammatory orbital lesions include a broad list of diagnoses, many of them with overlapping clinical and radiographic features. They often present a diagnostic conundrum, even to the most experienced orbital...Acta Neuropathologica Communications 2020 8:113- Acta Neuropathologica Communications 2020 8:112
Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma
Diffuse midline gliomas (DMGs) are aggressive pediatric brain tumors with dismal prognosis due to therapy-resistant tumor growth and invasion. We performed the first integrated histologic/genomic/proteomic ana...Acta Neuropathologica Communications 2020 8:111C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease
A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (ALS). The C9orf72 gene product forms...Acta Neuropathologica Communications 2020 8:110The unfolded protein response is activated in the olfactory system in Alzheimer’s disease
Olfactory dysfunction is an early and prevalent symptom of Alzheimer’s disease (AD) and the olfactory bulb is a nexus of beta-amyloid plaque and tau neurofibrillary tangle (NFT) pathology during early AD progr...Acta Neuropathologica Communications 2020 8:109Fyn depletion ameliorates tauP301L-induced neuropathology
The Src family non-receptor tyrosine kinase Fyn has been implicated in neurodegeneration of Alzheimer’s disease through interaction with amyloid β (Aβ). However, the role of Fyn in the pathogenesis of primary ...Acta Neuropathologica Communications 2020 8:108Molecular and clinicopathologic features of gliomas harboring NTRK fusions
Fusions involving neurotrophic tyrosine receptor kinase (NTRK) genes are detected in ≤2% of gliomas and can promote gliomagenesis. The remarkable therapeutic efficacy of TRK inhibitors, which are among the first ...Acta Neuropathologica Communications 2020 8:107Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation
During brain development, the nucleus of migrating neurons follows the centrosome and translocates into the leading process. Defects in these migratory events, which affect neuronal migration, cause lissenceph...Acta Neuropathologica Communications 2020 8:106Molecular 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 8:86
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