Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the...Acta Neuropathologica Communications 2019 7:187Attenuation of neuroinflammation reverses Adriamycin-induced cognitive impairments
Numerous clinical studies have established the debilitating neurocognitive side effects of chemotherapy in the treatment of breast cancer, often referred as chemobrain. We hypothesize that cognitive impairment...Acta Neuropathologica Communications 2019 7:186Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing
Many biology-based precision drugs are available that neutralize aberrant molecular pathways in cancer. Molecular heterogeneity and the lack of reliable companion diagnostic biomarkers for many drugs makes tar...Acta Neuropathologica Communications 2019 7:185Exosome release and neuropathology induced by α-synuclein: new insights into protective mechanisms of Drp1 inhibition
Targeting alpha-synuclein (α-syn) as a therapeutic strategy for Parkinson’s disease (PD) has been intensively pursued largely due to its well-recognized pathogenic role. Since its discovery as the first famili...Acta Neuropathologica Communications 2019 7:184Alzheimer’s disease tau is a prominent pathology in LRRK2 Parkinson’s disease
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson’s disease (PD). While the clinical presentation of LRRK2 mutation carriers is similar to that of idiopathic PD (iP...Acta Neuropathologica Communications 2019 7:183DNA repair deficiency and senescence in concussed professional athletes involved in contact sports
Mild traumatic brain injury (mTBI) leads to diverse symptoms including mood disorders, cognitive decline, and behavioral changes. In some individuals, these symptoms become chronic and persist in the long-term...Acta Neuropathologica Communications 2019 7:182Improved risk-stratification for posterior fossa ependymoma of childhood considering clinical, histological and genetic features – a retrospective analysis of the HIT ependymoma trial cohort
Risk stratification of children with ependymomas of the posterior fossa in current therapeutic protocols is mainly based on clinical criteria. We aimed to identify independent outcome predictors for this disea...Acta Neuropathologica Communications 2019 7:181Increased soluble amyloid-beta causes early aberrant brain network hypersynchronisation in a mature-onset mouse model of amyloidosis
Alzheimer’s disease (AD) is the most common form of dementia in the elderly. According to the amyloid hypothesis, the accumulation and deposition of amyloid-beta (Aβ) peptides play a key role in AD. Soluble Aβ...Acta Neuropathologica Communications 2019 7:180Correction to: c-MYC overexpression induces choroid plexus papillomas through a T-cell mediated inflammatory mechanism
In the original version of this article [1], there was 1 error in the affiliation of the European Institute of Oncology (affiliation 3). In this correction article the updated affiliation is shown for clarific...Acta Neuropathologica Communications 2019 7:179The original article was published in Acta Neuropathologica Communications 2019 7:95Different aspects of Alzheimer’s disease-related amyloid β-peptide pathology and their relationship to amyloid positron emission tomography imaging and dementia
Alzheimer’s disease (AD)-related amyloid β-peptide (Aβ) pathology in the form of amyloid plaques and cerebral amyloid angiopathy (CAA) spreads in its topographical distribution, increases in quantity, and unde...Acta Neuropathologica Communications 2019 7:178N368-Tau fragments generated by legumain are detected only in trace amount in the insoluble Tau aggregates isolated from AD brain
Intraneuronal insoluble inclusions made of Tau protein are neuropathological hallmarks of Alzheimer Disease (AD). Cleavage of Tau by legumain (LGMN) has been proposed to be crucial for aggregation of Tau into ...Acta Neuropathologica Communications 2019 7:177- Acta Neuropathologica Communications 2019 7:176
The level of activity of the alternative lengthening of telomeres correlates with patient age in IDH-mutant ATRX-loss-of-expression anaplastic astrocytomas
All cancer cells need to maintain functional telomeres to sustain continuous cell division and proliferation. In human diffuse gliomas, functional telomeres are maintained due either to reactivation of telomer...Acta Neuropathologica Communications 2019 7:175Microglial motility in Alzheimer’s disease and after Aβ42 immunotherapy: a human post-mortem study
Microglial function is highly dependent on cell motility, with baseline motility required for homeostatic surveillance activity and directed motility to migrate towards a source of injury. Experimental evidenc...Acta Neuropathologica Communications 2019 7:174Region-specific interneuron demyelination and heightened anxiety-like behavior induced by adolescent binge alcohol treatment
Adolescent binge drinking represents a major public health challenge and can lead to persistent neurological and mental conditions, but the underlying pathogenic mechanisms remain poorly understood. Using a mo...Acta Neuropathologica Communications 2019 7:173Chemokines modulate the tumour microenvironment in pituitary neuroendocrine tumours
Non-tumoural cells within the tumour microenvironment (TME) influence tumour proliferation, invasiveness and angiogenesis. Little is known about TME in pituitary neuroendocrine tumours (PitNETs). We aimed to c...Acta Neuropathologica Communications 2019 7:172In vivo detection of tau fibrils and amyloid β aggregates with luminescent conjugated oligothiophenes and multiphoton microscopy
The detection of amyloid beta deposits and neurofibrillary tangles, both hallmarks of Alzheimer’s disease (AD), is key to understanding the mechanisms underlying these pathologies. Luminescent conjugated oligo...Acta Neuropathologica Communications 2019 7:171Synergistic toxicity in an in vivo model of neurodegeneration through the co-expression of human TDP-43M337V and tauT175D protein
Although it has been suggested that the co-expression of multiple pathological proteins associated with neurodegeneration may act synergistically to induce more widespread neuropathology, experimental evidence...Acta Neuropathologica Communications 2019 7:170Multiplex proteomics identifies novel CSF and plasma biomarkers of early Alzheimer’s disease
To date, the development of disease-modifying therapies for Alzheimer’s disease (AD) has largely focused on the removal of amyloid beta Aβ fragments from the CNS. Proteomic profiling of patient fluids may help...Acta Neuropathologica Communications 2019 7:169BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Che...Acta Neuropathologica Communications 2019 7:168Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology
Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management....Acta Neuropathologica Communications 2019 7:158Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of ...Acta Neuropathologica Communications 2019 7:152Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests wit...Acta Neuropathologica Communications 2019 7:167Sarm1 deletion suppresses TDP-43-linked motor neuron degeneration and cortical spine loss
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition that primarily affects the motor system and shares many features with frontotemporal dementia (FTD). Evidence suggests that ALS is a ‘...Acta Neuropathologica Communications 2019 7:166Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions
Amyotrophic lateral sclerosis (ALS) is characterized pathologically by the occurrence of phosphorylated TDP-43 (pTDP-43)-immunoreactive neuronal and glial inclusions in the central nervous system. Recent studi...Acta Neuropathologica Communications 2019 7:165[18F]-AV-1451 binding profile in chronic traumatic encephalopathy: a postmortem case series
Chronic traumatic encephalopathy (CTE) is a tauopathy associated to repetitive head trauma. There are no validated in vivo biomarkers of CTE and a definite diagnosis can only be made at autopsy. Recent studies...Acta Neuropathologica Communications 2019 7:164Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities
In this multi-institutional study we compiled a retrospective cohort of 86 posterior fossa tumors having received the diagnosis of cerebellar glioblastoma (cGBM). All tumors were reviewed histologically and su...Acta Neuropathologica Communications 2019 7:163Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo
For the proper organization of the six-layered mammalian neocortex it is required that neurons migrate radially from their place of birth towards their designated destination. The molecular machinery underlyin...Acta Neuropathologica Communications 2019 7:162Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels
A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Reduction of select or total C9orf72 t...Acta Neuropathologica Communications 2019 7:161Chronic nigral neuromodulation aggravates behavioral deficits and synaptic changes in an α-synuclein based rat model for Parkinson’s disease
Aggregation of alpha-synuclein (α-SYN) is the pathological hallmark of several diseases named synucleinopathies, including Parkinson’s disease (PD), which is the most common neurodegenerative motor disorder. A...Acta Neuropathologica Communications 2019 7:160Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants
Tau aggregation is a hallmark feature in a subset of patients with frontotemporal dementia (FTD). Early and selective loss of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterio...Acta Neuropathologica Communications 2019 7:159Correction to: Retinal pathology in experimental optic neuritis is characterized by retrograde degeneration and gliosis
In the original publication of this article [1], Fig. 10 contained two panels “C” as panel “F” was accidentally omitted. The incorrect (Fig. 1) and correct (Fig. 2) versions are published in this correction ar...Acta Neuropathologica Communications 2019 7:157The original article was published in Acta Neuropathologica Communications 2019 7:116The prognostic role of IDH mutations in homogeneously treated patients with anaplastic astrocytomas and glioblastomas
The detection of IDH mutations in patients with diffusely infiltrating malignant astrocytomas resulted in substantial modifications in the concept of WHO classification of these tumors. An important underlying...Acta Neuropathologica Communications 2019 7:156Capture at the single cell level of metabolic modules distinguishing aggressive and indolent glioblastoma cells
Glioblastoma cell ability to adapt their functioning to microenvironment changes is a source of the extensive intra-tumor heterogeneity characteristic of this devastating malignant brain tumor. A systemic view...Acta Neuropathologica Communications 2019 7:155Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, which causes dysfunction/loss of lower motor neurons and muscle weakness as well as atrophy. While SMA is primarily considered as a motor n...Acta Neuropathologica Communications 2019 7:154Plasminogen Activator Inhibitor-1 (PAI-1) deficiency predisposes to depression and resistance to treatments
Major depressive disorder (MDD) is one of the most frequent psychiatric illnesses, leading to reduced quality of life, ability to work and sociability, thus ranking among the major causes of disability and mor...Acta Neuropathologica Communications 2019 7:153Profiling the unique protective properties of intracranial arterial endothelial cells
Cardiovascular disorders, like atherosclerosis and hypertension, are increasingly known to be associated with vascular cognitive impairment (VCI). In particular, intracranial atherosclerosis is one of the main...Acta Neuropathologica Communications 2019 7:151Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers
The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most...Acta Neuropathologica Communications 2019 7:150Epigenetic downregulation of STAT6 increases HIF-1α expression via mTOR/S6K/S6, leading to enhanced hypoxic viability of glioma cells
Multifunctional signal transducer and activator of transcription (STAT) proteins play important roles in cancer. Here, we have shown that STAT6 is epigenetically silenced in some cases of malignant glioblastom...Acta Neuropathologica Communications 2019 7:149Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson’s disease brain extracts in transgenic mice
Synucleinopathies [Parkinson’s disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA)] share filamentous α-synuclein assemblies in nerve cells and glial cells. We compared the abilitie...Acta Neuropathologica Communications 2019 7:148The p75NTR neurotrophin receptor is required to organize the mature neuromuscular synapse by regulating synaptic vesicle availability
The coordinated movement of organisms relies on efficient nerve-muscle communication at the neuromuscular junction. After peripheral nerve injury or neurodegeneration, motor neurons and Schwann cells increase ...Acta Neuropathologica Communications 2019 7:147Perfusion fixation in brain banking: a systematic review
Perfusing fixatives through the cerebrovascular system is the gold standard approach in animals to prepare brain tissue for spatial biomolecular profiling, circuit tracing, and ultrastructural studies such as ...Acta Neuropathologica Communications 2019 7:146Encephalopathy induced by Alzheimer brain inoculation in a non-human primate
Alzheimer’s disease is characterized by cognitive alterations, cerebral atrophy and neuropathological lesions including neuronal loss, accumulation of misfolded and aggregated β-amyloid peptides (Aβ) and tau p...Acta Neuropathologica Communications 2019 7:126Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination
Over recent years, human autoantibodies targeting myelin oligodendrocyte glycoprotein (MOG Ab) have been associated with monophasic and relapsing central nervous system demyelination involving the optic nerves...Acta Neuropathologica Communications 2019 7:145Optimization of ultrastructural preservation of human brain for transmission electron microscopy after long post-mortem intervals
Electron microscopy (EM) provides the necessary resolution to visualize the finer structures of nervous tissue morphology, which is important to understand healthy and pathological conditions in the brain. How...Acta Neuropathologica Communications 2019 7:144Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation repeat expansion (55–200 CGG repeats) in the 5′ noncoding region of the FMR1 gene. Solitary intran...Acta Neuropathologica Communications 2019 7:143Unique α-synuclein pathology within the amygdala in Lewy body dementia: implications for disease initiation and progression
The protein α-synuclein (αsyn) forms pathologic aggregates in a number of neurodegenerative diseases including Lewy body dementia (LBD) and Parkinson’s disease (PD). It is unclear why diseases such as LBD may ...Acta Neuropathologica Communications 2019 7:142Aβ43 in human Alzheimer’s disease: effects of active Aβ42 immunization
Neuropathological follow-up of patients with Alzheimer’s disease (AD) who participated in the first clinical trial of Amyloid-β 42 (Aβ42) immunization (AN1792, Elan Pharmaceuticals) has shown that immunization...Acta Neuropathologica Communications 2019 7:141Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT
Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study, we were interested whether genetic alterations in I...Acta Neuropathologica Communications 2019 7:140Telomere alterations in neurofibromatosis type 1-associated solid tumors
The presence of Alternative lengthening of telomeres (ALT) and/or ATRX loss, as well as the role of other telomere abnormalities, have not been formally studied across the spectrum of NF1-associated solid tumo...Acta Neuropathologica Communications 2019 7:139
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