Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 24, 2023 Category: Neurology Source Type: research
PLAG1 fusions extend the spectrum of PLAG(L)-altered CNS tumors
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 23, 2023 Category: Neurology Source Type: research
Independent prognostic impact of DNA methylation class and chromosome 1p loss in WHO grade 2 and 3 meningioma undergoing adjuvant high-dose radiotherapy: comprehensive molecular analysis of EORTC 22042 –26042
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 19, 2023 Category: Neurology Source Type: research
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 18, 2023 Category: Neurology Source Type: research
The choroidal nervous system: a link between mineralocorticoid receptor and pachychoroid
AbstractCentral serous chorioretinopathy (CSCR) belongs to the pachychoroid spectrum, a pathological phenotype of the choroidal vasculature, in which blood flow is under the choroidal nervous system (ChNS) regulation. The pathogenesis of CSCR is multifactorial, with the most recognised risk factor being intake of glucocorticoids, which activate both the gluco- and the mineralocorticoid (MR) receptors. As MR over-activation is pathogenic in the retina and choroid, it could mediate the pathogenic effects of glucocorticoids in CSCR. But the role of MR signalling in pachychoroid is unknown and whether it affects the ChNS has n...
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Transcriptional mutagenesis of α-synuclein caused by DNA oxidation in Parkinson’s disease pathogenesis
In this study, we hypothesized that 8-oxodG can generate novel α-synuclein (α-SYN) mutant s with altered pathologic aggregation through a phenomenon called transcriptional mutagenesis (TM). We observed a significantly higher accumulation of 8-oxodG in the midbrain genomic DNA from PD patients compared to age-matched controls, both globally and region specifically to α-SYN. In-silico ana lysis predicted that forty-three amino acid positions can contribute to TM-derived α-SYN mutation. Here, we report a significantly higher load of TM-derived α-SYN mutants from the midbrain of PD patients compared to controls using a se...
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis
In this study, we focused on senescence of tissue-resident cells as potential driver of disease. For this purpose, we compared IBM patients to non-diseased controls and immune-mediated necrotizing myopathy patients. Histopathological analysis suggested that cellular senescence is a prominent feature of IBM, primarily affecting non-myogenic cells. In-depth analysis by single nuclei RNA sequencing allowed for the deconvolution and study of muscle-resident cell populations. Among these, we identified a specific cluster of fibro-adipogenic progenitors (FAPs) that demonstrated key hallmarks of senescence, including a pro-inflam...
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Myeloid cell iron uptake pathways and paramagnetic rim formation in multiple sclerosis
AbstractIn multiple sclerosis (MS), sustained inflammatory activity can be visualized by iron-sensitive magnetic resonance imaging (MRI) at the edges of chronic lesions. These paramagnetic rim lesions (PRLs) are associated with clinical worsening, although the cell type-specific and molecular pathways of iron uptake and metabolism are not well known. We studied two postmortem cohorts: an exploratory formalin-fixed paraffin-embedded (FFPE) tissue cohort of 18 controls and 24 MS cases and a confirmatory snap-frozen cohort of 6 controls and 14 MS cases. Besides myelin and non-heme iron imaging, the haptoglobin-hemoglobin scav...
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Detection of blood –brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-2
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Microglial contribution to the pathology of neurodevelopmental disorders in humans
AbstractMicroglia are the brain ’s resident macrophages, which guide various developmental processes crucial for brain maturation, activity, and plasticity. Microglial progenitors enter the telencephalic wall by the 4th postconceptional week and colonise the fetal brain in a manner that spatiotemporally tracks key neurodevelopme ntal processes in humans. However, much of what we know about how microglia shape neurodevelopment comes from rodent studies. Multiple differences exist between human and rodent microglia warranting further focus on the human condition, particularly as microglia are emerging as critically involve...
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
TDP-43 pathology in the retina of patients with frontotemporal lobar degeneration
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 15, 2023 Category: Neurology Source Type: research
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas
(Source: Acta Neuropathologica)
Source: Acta Neuropathologica - October 13, 2023 Category: Neurology Source Type: research
