Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease
Mitochondrial dysfunction has been implicated in multiple neurodegenerative diseases but remains largely unexplored in Creutzfeldt-Jakob disease. Here, we characterize the mitochondrial respiratory chain at th...Acta Neuropathologica Communications 2020 8:50Induction of aquaporin 4-reactive antibodies in Lewis rats immunized with aquaporin 4 mimotopes
Most cases of neuromyelitis optica spectrum disorders (NMOSD) harbor pathogenic autoantibodies against the water channel aquaporin 4 (AQP4). Binding of these antibodies to AQP4 on astrocytes initiates damage t...Acta Neuropathologica Communications 2020 8:49Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative diso...Acta Neuropathologica Communications 2020 8:48Abnormal mitosis in reactive astrocytes
Although abnormal mitosis with disarranged metaphase chromosomes or many micronuclei in astrocytes (named “Alzheimer I type astrocytes” and later “Creutzfeldt-Peters cells”) have been known for nearly 100 year...Acta Neuropathologica Communications 2020 8:47Insulin-like growth factor-1 overexpression increases long-term survival of posttrauma-born hippocampal neurons while inhibiting ectopic migration following traumatic brain injury
Cellular damage associated with traumatic brain injury (TBI) manifests in motor and cognitive dysfunction following injury. Experimental models of TBI reveal cell death in the granule cell layer (GCL) of the h...Acta Neuropathologica Communications 2020 8:46Biological links between traumatic brain injury and Parkinson’s disease
Parkinson’s Disease (PD) is a progressive neurodegenerative disorder with no cure. Clinical presentation is characterized by postural instability, resting tremors, and gait problems that result from progressiv...Acta Neuropathologica Communications 2020 8:45Tacr3 in the lateral habenula differentially regulates orofacial allodynia and anxiety-like behaviors in a mouse model of trigeminal neuralgia
Trigeminal neuralgia (TN) is debilitating and is usually accompanied by mood disorders. The lateral habenula (LHb) is considered to be involved in the modulation of pain and mood disorders, and the present stu...Acta Neuropathologica Communications 2020 8:44Diversity in Aβ deposit morphology and secondary proteome insolubility across models of Alzheimer-type amyloidosis
A hallmark pathology of Alzheimer’s disease (AD) is the formation of amyloid β (Aβ) deposits that exhibit diverse localization and morphologies, ranging from diffuse to cored-neuritic deposits in brain parench...Acta Neuropathologica Communications 2020 8:43Annexin A2–STAT3–Oncostatin M receptor axis drives phenotypic and mesenchymal changes in glioblastoma
Glioblastoma (GBM) is characterized by extensive tumor cell invasion, angiogenesis, and proliferation. We previously established subclones of GBM cells with distinct invasive phenotypes and identified annexin ...Acta Neuropathologica Communications 2020 8:42KLF4K409Q–mutated meningiomas show enhanced hypoxia signaling and respond to mTORC1 inhibitor treatment
Meningioma represents the most common primary brain tumor in adults. Recently several non-NF2 mutations in meningioma have been identified and correlated with certain pathological subtypes, locations and clinical...Acta Neuropathologica Communications 2020 8:41The molecular characteristics of spinal cord gliomas with or without H3 K27M mutation
Due to the rare incidence of spinal cord astrocytomas, their molecular features remain unclear. Here, we characterized the landscapes of mutations in H3 K27M, isocitrate dehydrogenase 1 (IDH1) R132H, BRAF V600E, ...Acta Neuropathologica Communications 2020 8:40Neuropathological correlates of parkinsonian disorders in a large Dutch autopsy series
The clinical diagnosis in patients with parkinsonian disorders can be challenging, and a definite diagnosis requires neuropathological confirmation. The aim of this study was to examine whether a clinical diag...Acta Neuropathologica Communications 2020 8:39Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme biosynthesis due to a pathogenic mutation in the Hmbs gene, resulting in half-normal activity of hydroxymethylbilane synthase. Fact...Acta Neuropathologica Communications 2020 8:38- Acta Neuropathologica Communications 2020 8:37
Astrocytes rescue neuronal health after cisplatin treatment through mitochondrial transfer
Neurodegenerative disorders, including chemotherapy-induced cognitive impairment, are associated with neuronal mitochondrial dysfunction. Cisplatin, a commonly used chemotherapeutic, induces neuronal mitochond...Acta Neuropathologica Communications 2020 8:36Altered secretory and neuroprotective function of the choroid plexus in progressive multiple sclerosis
The choroid plexus (CP) is a key regulator of the central nervous system (CNS) homeostasis through its secretory, immunological and barrier properties. Accumulating evidence suggests that the CP plays a pivota...Acta Neuropathologica Communications 2020 8:35Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy
Autosomal dominant missense mutations in BICD2 cause Spinal Muscular Atrophy Lower Extremity Predominant 2 (SMALED2), a developmental disease of motor neurons. BICD2 is a key component of the cytoplasmic dynein/d...Acta Neuropathologica Communications 2020 8:34Histological correlates of postmortem ultra-high-resolution single-section MRI in cortical cerebral microinfarcts
The identification of cerebral microinfarctions with magnetic resonance imaging (MRI) and histological methods remains challenging in aging and dementia. Here, we matched pathological changes in the microvascu...Acta Neuropathologica Communications 2020 8:33CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model
Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders of the peripheral nervous system. CMT is subdivided into two main types: a demyelinating form, known as CMT1, and an axonal form...Acta Neuropathologica Communications 2020 8:32Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier – phenotypic variability in autosomal dominant Alzheimer’s disease
The discovery of mutations associated with familial forms of Alzheimer’s disease (AD), has brought imperative insights into basic mechanisms of disease pathogenesis and progression and has allowed researchers ...Acta Neuropathologica Communications 2020 8:31Pediatric low-grade glioma in the era of molecular diagnostics
Low grade gliomas are the most frequent brain tumors in children and encompass a spectrum of histologic entities which are currently assigned World Health Organisation grades I and II. They differ substantiall...Acta Neuropathologica Communications 2020 8:30Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients
Multiple system atrophy (MSA) is a rare disease with a fatal outcome. To date, little is known about the molecular processes underlying disease development. Its clinical overlap with related neurodegenerative ...Acta Neuropathologica Communications 2020 8:29Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape
Peripheral metastases of glioblastoma (GBM) are very rare despite the ability of GBM cells to pass through the blood-brain barrier and be disseminated through the peripheral blood. Here, we describe a detailed...Acta Neuropathologica Communications 2020 8:28Low-grade developmental and epilepsy associated brain tumors: a critical update 2020
Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as l...Acta Neuropathologica Communications 2020 8:27Meta-analysis of human prefrontal cortex reveals activation of GFAP and decline of synaptic transmission in the aging brain
Despite ongoing research efforts, mechanisms of brain aging are still enigmatic and need to be elucidated for a better understanding of age-associated cognitive decline. The aim of this study is to investigate...Acta Neuropathologica Communications 2020 8:26Hippocampal tau oligomerization early in tau pathology coincides with a transient alteration of mitochondrial homeostasis and DNA repair in a mouse model of tauopathy
Insoluble intracellular aggregation of tau proteins into filaments and neurodegeneration are histopathological hallmarks of Alzheimer disease (AD) and other tauopathies. Recently, prefibrillar, soluble, oligom...Acta Neuropathologica Communications 2020 8:25Correction to: Inflammation of the choroid plexus in progressive multiple sclerosis: accumulation of granulocytes and T cells
The original publication of this article [1] contained an incorrect author name. The correct and incorrect information is shown in this correction article. The original article has been updated.Acta Neuropathologica Communications 2020 8:24The original article was published in Acta Neuropathologica Communications 2020 8:9- Acta Neuropathologica Communications 2020 8:23
A single ultrasensitive assay for detection and discrimination of tau aggregates of Alzheimer and Pick diseases
Multiple neurodegenerative diseases are characterized by aggregation of tau molecules. Adult humans express six isoforms of tau that contain either 3 or 4 microtubule binding repeats (3R or 4R tau). Different ...Acta Neuropathologica Communications 2020 8:22FGFR- gene family alterations in low-grade neuroepithelial tumors
The discovery of fibroblast growth factor receptor (FGFR) gene family alterations as drivers of primary brain tumors has generated significant excitement, both as potential therapeutic targets as well as defin...Acta Neuropathologica Communications 2020 8:21Single-nucleus RNA-seq identifies Huntington disease astrocyte states
Huntington Disease (HD) is an inherited movement disorder caused by expanded CAG repeats in the Huntingtin gene. We have used single nucleus RNASeq (snRNASeq) to uncover cellular phenotypes that change in the ...Acta Neuropathologica Communications 2020 8:19Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal re...Acta Neuropathologica Communications 2020 8:18Early-onset impairment of the ubiquitin-proteasome system in dopaminergic neurons caused by α-synuclein
Parkinson’s disease is a progressive neurodegenerative disorder characterised by the accumulation of misfolded α-synuclein in selected brain regions, including the substantia nigra pars compacta (SNpc), where ...Acta Neuropathologica Communications 2020 8:17Subdural haematomas drain into the extracranial lymphatic system through the meningeal lymphatic vessels
Subdural haematomas (SDHs) are characterized by rapidly or gradually accumulated haematomas between the arachnoid and dura mater. The mechanism of haematoma clearance has not been clearly elucidated until now....Acta Neuropathologica Communications 2020 8:16The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas
A subset of gliomas has DNA repair defects that lead to hypermutated genomes. While such tumors are resistant to alkylating chemotherapies, they may also express more mutant neoantigens on their cell surfaces,...Acta Neuropathologica Communications 2020 8:15Thalamostriatal degeneration contributes to dystonia and cholinergic interneuron dysfunction in a mouse model of Huntington’s disease
Huntington’s disease (HD) is an autosomal dominant trinucleotide repeat disorder characterized by choreiform movements, dystonia and striatal neuronal loss. Amongst multiple cellular processes, abnormal neurot...Acta Neuropathologica Communications 2020 8:14H3F3A mutant allele specific imbalance in an aggressive subtype of diffuse midline glioma, H3 K27M-mutant
Diffuse midline glioma, H3 K27M-mutant is a lethal brain tumor located in the thalamus, brain stem, or spinal cord. H3 K27M encoded by the mutation of a histone H3 gene such as H3F3A plays a pivotal role in the t...Acta Neuropathologica Communications 2020 8:8Pre-clinical characterisation of E2814, a high-affinity antibody targeting the microtubule-binding repeat domain of tau for passive immunotherapy in Alzheimer’s disease
Tau deposition in the brain is a pathological hallmark of many neurodegenerative disorders, including Alzheimer’s disease (AD). During the course of these tauopathies, tau spreads throughout the brain via syna...Acta Neuropathologica Communications 2020 8:13Tau-tubulin kinase 1 and amyloid-β peptide induce phosphorylation of collapsin response mediator protein-2 and enhance neurite degeneration in Alzheimer disease mouse models
The accumulation of phosphorylated tau protein (pTau) in the entorhinal cortex (EC) is the earliest tau pathology in Alzheimer’s disease (AD). Tau tubulin kinase-1 (TTBK1) is a neuron-specific tau kinase and e...Acta Neuropathologica Communications 2020 8:12
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