8,390 results match your criteria Acta neuropathologica[Journal]


Microvascular injury and hypoxic damage: emerging neuropathological signatures in COVID-19.

Acta Neuropathol 2020 Jul 8. Epub 2020 Jul 8.

Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00401-020-02190-2DOI Listing

Correction to: Somatic mutations in neurons during aging and neurodegeneration.

Acta Neuropathol 2020 Jul 6. Epub 2020 Jul 6.

Department of Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER, Maastricht, The Netherlands.

In the original article, the panels "Brain organoids" and "Transgenics" were included in Fig. 5 without permission. Read More

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http://dx.doi.org/10.1007/s00401-020-02186-yDOI Listing

Vesicle trafficking and lipid metabolism in synucleinopathy.

Acta Neuropathol 2020 Jun 30. Epub 2020 Jun 30.

Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.

The neuronal protein α-synuclein (αS) is central to the pathogenesis of Parkinson's disease and other progressive brain diseases such as Lewy body dementia and multiple system atrophy. These diseases, collectively referred to as 'synucleinopathies', have long been considered purely proteinopathies: diseases characterized by the misfolding of a protein into small and large aggregates mainly consisting of that protein (in this case: α-synuclein). However, recent morphological insights into Lewy bodies, the hallmark neuropathology of human synucleinopathies, suggests these lesions are also rich in vesicles and other membranous organelles. Read More

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http://dx.doi.org/10.1007/s00401-020-02177-zDOI Listing

ETMR: a tumor entity in its infancy.

Acta Neuropathol 2020 Jun 29. Epub 2020 Jun 29.

Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.

Embryonal tumor with Multilayered Rosettes (ETMR) is a relatively rare but typically deadly type of brain tumor that occurs mostly in infants. Since the discovery of the characteristic chromosome 19 miRNA cluster (C19MC) amplification a decade ago, the methods for diagnosing this entity have improved and many new insights in the molecular landscape of ETMRs have been acquired. All ETMRs, despite their highly heterogeneous histology, are characterized by specific high expression of the RNA-binding protein LIN28A, which is, therefore, often used as a diagnostic marker for these tumors. Read More

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http://dx.doi.org/10.1007/s00401-020-02182-2DOI Listing

Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.

Acta Neuropathol 2020 Jun 29. Epub 2020 Jun 29.

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA.

Polygenic inheritance plays a central role in Parkinson disease (PD). A priority in elucidating PD etiology lies in defining the biological basis of genetic risk. Unraveling how risk leads to disruption will yield disease-modifying therapeutic targets that may be effective. Read More

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http://dx.doi.org/10.1007/s00401-020-02181-3DOI Listing

SFPQ and Tau: critical factors contributing to rapid progression of Alzheimer's disease.

Acta Neuropathol 2020 Jun 23. Epub 2020 Jun 23.

Department of Neurology, University Medical Center Göttingen and the German Center for Neurodegenerative Diseases (DZNE), Robert-Koch-Straße 40, 37075, Göttingen, Germany.

Dysfunctional RNA-binding proteins (RBPs) have been implicated in several neurodegenerative disorders. Recently, this paradigm of RBPs has been extended to pathophysiology of Alzheimer's disease (AD). Here, we identified disease subtype specific variations in the RNA-binding proteome (RBPome) of sporadic AD (spAD), rapidly progressive AD (rpAD), and sporadic Creutzfeldt Jakob disease (sCJD), as well as control cases using RNA pull-down assay in combination with proteomics. Read More

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http://dx.doi.org/10.1007/s00401-020-02178-yDOI Listing

Enhanced axonal response of mitochondria to demyelination offers neuroprotection: implications for multiple sclerosis.

Acta Neuropathol 2020 Jun 22. Epub 2020 Jun 22.

Centre for Clinical Brain Sciences, University of Edinburgh, Chancellor's Building, 49 Little France Crescent, Edinburgh, EH16 4SB, UK.

Axonal loss is the key pathological substrate of neurological disability in demyelinating disorders, including multiple sclerosis (MS). However, the consequences of demyelination on neuronal and axonal biology are poorly understood. The abundance of mitochondria in demyelinated axons in MS raises the possibility that increased mitochondrial content serves as a compensatory response to demyelination. Read More

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http://dx.doi.org/10.1007/s00401-020-02179-xDOI Listing

The KBTBD6/7-DRD2 axis regulates pituitary adenoma sensitivity to dopamine agonist treatment.

Acta Neuropathol 2020 Jun 22. Epub 2020 Jun 22.

Department of Neurosurgery, Center of Pituitary Tumor, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

Pituitary adenoma (PA) is one of the most common intracranial tumors, and approximately 40% of all PAs are prolactinomas. Dopamine agonists (DAs), such as cabergoline (CAB), have been successfully used in the treatment of prolactinomas. The expression of dopamine type 2 receptor (DRD2) determines the therapeutic effect of DAs, but the molecular mechanisms of DRD2 regulation are not fully understood. Read More

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http://dx.doi.org/10.1007/s00401-020-02180-4DOI Listing
June 2020
10.762 Impact Factor

Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.

Acta Neuropathol 2020 Jun 19. Epub 2020 Jun 19.

German Center for Neurodegenerative Diseases (DZNE), Munich, 81377, Munich, Germany.

Expansion of a (GC) repeat in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the link of the five repeat-encoded dipeptide repeat (DPR) proteins to neuroinflammation, TDP-43 pathology, and neurodegeneration is unclear. Poly-PR is most toxic in vitro, but poly-GA is far more abundant in patients. To directly compare these in vivo, we created congenic poly-GA and poly-PR mice. Read More

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http://dx.doi.org/10.1007/s00401-020-02176-0DOI Listing

Correction to: Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes.

Acta Neuropathol 2020 Jun 19. Epub 2020 Jun 19.

Center for Genetic Medicine Research, Children's National Medical Center, 111 Michigan Ave., NW, Washington, DC, 20010, USA.

The original version of this article unfortunately contained a mistake. Read More

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http://dx.doi.org/10.1007/s00401-020-02162-6DOI Listing

ATP10B and the risk for Parkinson's disease.

Acta Neuropathol 2020 Jun 15. Epub 2020 Jun 15.

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute On Aging, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00401-020-02172-4DOI Listing

Reply: ATP10B and the risk for Parkinson's disease.

Acta Neuropathol 2020 Jun 15. Epub 2020 Jun 15.

VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-020-02173-3DOI Listing

Prion propagation estimated from brain diffusion MRI is subtype dependent in sporadic Creutzfeldt-Jakob disease.

Acta Neuropathol 2020 Jun 13. Epub 2020 Jun 13.

Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a transmissible brain proteinopathy. Five main clinicopathological subtypes (sCJD-MM(V)1, -MM(V)2C, -MV2K, -VV1, and -VV2) are currently distinguished. Histopathological evidence suggests that the localisation of prion aggregates and spongiform lesions varies among subtypes. Read More

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http://dx.doi.org/10.1007/s00401-020-02168-0DOI Listing

HIF-1α is involved in blood-brain barrier dysfunction and paracellular migration of bacteria in pneumococcal meningitis.

Acta Neuropathol 2020 Jun 11. Epub 2020 Jun 11.

Institute for Medical Microbiology and Infection Control, Goethe University, Frankfurt am Main, Germany.

Bacterial meningitis is a deadly disease most commonly caused by Streptococcus pneumoniae, leading to severe neurological sequelae including cerebral edema, seizures, stroke, and mortality when untreated. Meningitis is initiated by the transfer of S. pneumoniae from blood to the brain across the blood-cerebrospinal fluid barrier or the blood-brain barrier (BBB). Read More

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http://dx.doi.org/10.1007/s00401-020-02174-2DOI Listing

Patient-derived orthotopic xenografts of pediatric brain tumors: a St. Jude resource.

Acta Neuropathol 2020 Jun 10. Epub 2020 Jun 10.

Department of Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Pediatric brain tumors are the leading cause of cancer-related death in children. Patient-derived orthotopic xenografts (PDOX) of childhood brain tumors have recently emerged as a biologically faithful vehicle for testing novel and more effective therapies. Herein, we provide the histopathological and molecular analysis of 37 novel PDOX models generated from pediatric brain tumor patients treated at St. Read More

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http://dx.doi.org/10.1007/s00401-020-02171-5DOI Listing

Neuropathology of COVID-19: a spectrum of vascular and acute disseminated encephalomyelitis (ADEM)-like pathology.

Acta Neuropathol 2020 07 24;140(1):1-6. Epub 2020 May 24.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

We report the neuropathological findings of a patient who died from complications of COVID-19. The decedent was initially hospitalized for surgical management of underlying coronary artery disease. He developed post-operative complications and was evaluated with chest imaging studies. Read More

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http://dx.doi.org/10.1007/s00401-020-02166-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245994PMC

Spatial enrichment of cellular states in glioblastoma.

Acta Neuropathol 2020 Jul 24;140(1):85-87. Epub 2020 May 24.

Departments of Pathology and Neurosurgery, Marlene and Stewart Greenebaum Comprehensive Cancer Center, University of Maryland School of Medicine, 655 W. Baltimore St., Bressler Research Bldg., Room 8-039, Baltimore, MD, 21201, USA.

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http://dx.doi.org/10.1007/s00401-020-02165-3DOI Listing

Evidence of distinct α-synuclein strains underlying disease heterogeneity.

Acta Neuropathol 2020 May 21. Epub 2020 May 21.

Department of Biology, Institute for Applied Life Sciences, University of Massachusetts Amherst, Amherst, MA, USA.

Synucleinopathies are a group of neurodegenerative disorders caused by the misfolding and self-templating of the protein α-synuclein, or the formation of α-synuclein prions. Each disorder differs by age of onset, presenting clinical symptoms, α-synuclein inclusion morphology, and neuropathological distribution. Explaining this disease-specific variability, the strain hypothesis postulates that each prion disease is encoded by a distinct conformation of the misfolded protein, and therefore, each synucleinopathy is caused by a unique α-synuclein structure. Read More

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http://dx.doi.org/10.1007/s00401-020-02163-5DOI Listing

Frequent inactivating mutations of the PBAF complex gene PBRM1 in meningioma with papillary features.

Acta Neuropathol 2020 Jul 13;140(1):89-93. Epub 2020 May 13.

Translational Neuro‑Oncology Laboratory, Department of Neurosurgery, Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1007/s00401-020-02161-7DOI Listing

Distribution patterns of tau pathology in progressive supranuclear palsy.

Acta Neuropathol 2020 May 7. Epub 2020 May 7.

German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

Progressive supranuclear palsy (PSP) is a 4R-tauopathy predominated by subcortical pathology in neurons, astrocytes, and oligodendroglia associated with various clinical phenotypes. In the present international study, we addressed the question of whether or not sequential distribution patterns can be recognized for PSP pathology. We evaluated heat maps and distribution patterns of neuronal, astroglial, and oligodendroglial tau pathologies and their combinations in different clinical subtypes of PSP in postmortem brains. Read More

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http://dx.doi.org/10.1007/s00401-020-02158-2DOI Listing
May 2020
10.762 Impact Factor

Histological features of gadolinium deposition in the brain, a case report.

Acta Neuropathol 2020 Apr 30. Epub 2020 Apr 30.

Department of Anatomic Pathology, University of Wisconsin-Madison, Madison, USA.

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http://dx.doi.org/10.1007/s00401-020-02159-1DOI Listing

The structural differences between patient-derived α-synuclein strains dictate characteristics of Parkinson's disease, multiple system atrophy and dementia with Lewy bodies.

Acta Neuropathol 2020 Jun 30;139(6):977-1000. Epub 2020 Apr 30.

Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Leuven, Belgium.

Synucleinopathies, such as Parkinson's disease (PD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB), are defined by the presence of α-synuclein (αSYN) aggregates throughout the nervous system but diverge from one another with regard to their clinical and pathological phenotype. The recent generation of pure fibrillar αSYN polymorphs with noticeable differences in structural and phenotypic traits has led to the hypothesis that different αSYN strains may be in part responsible for the heterogeneous nature of synucleinopathies. To further characterize distinct αSYN strains in the human brain, and establish a structure-pathology relationship, we pursued a detailed comparison of αSYN assemblies derived from well-stratified patients with distinct synucleinopathies. Read More

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http://dx.doi.org/10.1007/s00401-020-02157-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244622PMC

Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies.

Acta Neuropathol 2020 Jul 27;140(1):49-62. Epub 2020 Apr 27.

IRCCS, Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.

The clinical diagnosis of synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), is challenging, especially at an early disease stage, due to the heterogeneous and often non-specific clinical manifestations. The discovery of reliable specific markers for synucleinopathies would consequently be of great aid to the diagnosis and management of these disorders. Real-Time Quaking-Induced Conversion (RT-QuIC) is an ultrasensitive technique that has been previously used to detect self-templating amyloidogenic proteins in the cerebrospinal fluid (CSF) and other biospecimens in prion disease and synucleinopathies. Read More

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http://dx.doi.org/10.1007/s00401-020-02160-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299922PMC

Biological sex and DNA repair deficiency drive Alzheimer's disease via systemic metabolic remodeling and brain mitochondrial dysfunction.

Acta Neuropathol 2020 Jul 24;140(1):25-47. Epub 2020 Apr 24.

Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.

Alzheimer's disease (AD) is an incurable neurodegenerative disease that is more prevalent in women. The increased risk of AD in women is not well understood. It is well established that there are sex differences in metabolism and that metabolic alterations are an early component of AD. Read More

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http://dx.doi.org/10.1007/s00401-020-02152-8DOI Listing

MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease.

Acta Neuropathol 2020 Jul 18;140(1):63-80. Epub 2020 Apr 18.

Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.

Polyglutamine (polyQ) tract expansion leads to proteotoxic misfolding and drives a family of nine diseases. We study spinal and bulbar muscular atrophy (SBMA), a progressive degenerative disorder of the neuromuscular system caused by the polyQ androgen receptor (AR). Using a knock-in mouse model of SBMA, AR113Q mice, we show that E3 ubiquitin ligases which are a hallmark of the canonical muscle atrophy machinery are not induced in AR113Q muscle. Read More

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http://dx.doi.org/10.1007/s00401-020-02156-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7166004PMC

Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.

Acta Neuropathol 2020 Jun 17;139(6):1071-1088. Epub 2020 Apr 17.

Department of Pathology, University of California, San Francisco, CA, USA.

Brain tumors are the most common solid tumors of childhood, and the genetic drivers and optimal therapeutic strategies for many of the different subtypes remain unknown. Here, we identify that bithalamic gliomas harbor frequent mutations in the EGFR oncogene, only rare histone H3 mutation (in contrast to their unilateral counterparts), and a distinct genome-wide DNA methylation profile compared to all other glioma subtypes studied to date. These EGFR mutations are either small in-frame insertions within exon 20 (intracellular tyrosine kinase domain) or missense mutations within exon 7 (extracellular ligand-binding domain) that occur in the absence of accompanying gene amplification. Read More

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http://dx.doi.org/10.1007/s00401-020-02155-5DOI Listing
June 2020
10.762 Impact Factor

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathol 2020 Jun 31;139(6):1089-1104. Epub 2020 Mar 31.

Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.

RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations can destabilize RyR1 leading to calcium leak causing oxidative overload and myopathy. However, the effect of RyR1 leak has not been established in individuals with RYR1-related myopathies (RYR1-RM), a broad spectrum of rare neuromuscular disorders. Read More

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http://dx.doi.org/10.1007/s00401-020-02150-wDOI Listing

PTEN activation contributes to neuronal and synaptic engulfment by microglia in tauopathy.

Acta Neuropathol 2020 Jul 31;140(1):7-24. Epub 2020 Mar 31.

Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia.

Phosphatase and tensin homolog (PTEN) regulates synaptic density in development; however, whether PTEN also regulates synapse loss in a neurodegenerative disorder such as frontotemporal lobar degeneration with Tau deposition (FTLD-Tau) has not been explored. Here, we found that pathological Tau promotes early activation of PTEN, which precedes apoptotic caspase-3 cleavage in the rTg4510 mouse model of FTLD-Tau. We further demonstrate increased synaptic and neuronal exposure of the apoptotic signal phosphatidylserine that tags neuronal structures for microglial uptake, thereby linking PTEN activation to synaptic and neuronal structure elimination. Read More

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http://dx.doi.org/10.1007/s00401-020-02151-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300099PMC

Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic.

Acta Neuropathol 2020 Jun 30;139(6):965-976. Epub 2020 Mar 30.

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology Queen Square, London, WC1N 3BG, United Kingdom.

Widespread dietary exposure of the population of Britain to bovine spongiform encephalopathy (BSE) prions in the 1980s and 1990s led to the emergence of variant Creutzfeldt-Jakob Disease (vCJD) in humans. Two previous appendectomy sample surveys (Appendix-1 and -2) estimated the prevalence of abnormal prion protein (PrP) in the British population exposed to BSE to be 237 per million and 493 per million, respectively. The Appendix-3 survey was recommended to measure the prevalence of abnormal PrP in population groups thought to have been unexposed to BSE. Read More

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http://dx.doi.org/10.1007/s00401-020-02153-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244468PMC

Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.

Acta Neuropathol 2020 Jun 26;139(6):1045-1070. Epub 2020 Mar 26.

Centre for Prions and Protein Folding Diseases, University of Alberta, 204 Brain and Aging Research Building, Edmonton, T6G 2M8, Canada.

Tau protein accumulation is a common denominator of major dementias, but this process is inhomogeneous, even when triggered by the same germline mutation. We considered stochastic misfolding of human tau conformers followed by templated conversion of native monomers as an underlying mechanism and derived sensitive conformational assays to test this concept. Assessments of brains from aged TgTau transgenic mice revealed a prodromal state and three distinct signatures for misfolded tau. Read More

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http://dx.doi.org/10.1007/s00401-020-02148-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244472PMC
June 2020
10.762 Impact Factor

Correction to: Niacin-mediated rejuvenation of macrophage/microglia enhances remyelination of the aging central nervous system.

Acta Neuropathol 2020 05;139(5):911

Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, 3330 Hospital Drive, Calgary, AB, T2N 4N1, Canada.

The article Niacin‑mediated rejuvenation of macrophage/microglia enhances remyelination of the aging central nervous system, written by Khalil S. Rawji, Adam M.H. Read More

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http://dx.doi.org/10.1007/s00401-020-02146-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181532PMC

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Acta Neuropathol 2020 Jun 14;139(6):1001-1024. Epub 2020 Mar 14.

Center for Molecular Neurology, VIB, University of Antwerp, Universiteitsplein 1, 2610, Antwerpen, Belgium.

Parkinson's disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta and the occurrence of α-synuclein-positive Lewy bodies in surviving neurons. Here, we performed whole exome sequencing in 52 early-onset PD patients and identified 3 carriers of compound heterozygous mutations in the ATP10B P4-type ATPase gene. Genetic screening of a Belgian PD and dementia with Lewy bodies (DLB) cohort identified 4 additional compound heterozygous mutation carriers (6/617 PD patients, 0. Read More

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http://dx.doi.org/10.1007/s00401-020-02145-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244618PMC

Correction to: Overlapping genetic architecture between Parkinson disease and melanoma.

Acta Neuropathol 2020 05;139(5):963

Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave. CB8134, St. Louis, MO, 63110, USA.

The original version of this article unfortunately contained a mistake. Supplementary Tables 3 and 4 are not available with the rest of the supplementary material available online. Read More

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http://dx.doi.org/10.1007/s00401-020-02143-9DOI Listing

Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas.

Acta Neuropathol 2020 Jun 13;139(6):1105-1107. Epub 2020 Mar 13.

Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1007/s00401-020-02141-xDOI Listing

PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment.

Acta Neuropathol 2020 Jun 12;139(6):1025-1044. Epub 2020 Mar 12.

Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Bonn, Germany.

A rare coding variant (rs72824905, p.P522R) conferring protection against Alzheimer's disease (AD) was identified in the gene encoding the enzyme phospholipase-C-γ2 (PLCG2) that is highly expressed in microglia. To explore the protective nature of this variant, we employed latent process linear mixed models to examine the association of p. Read More

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http://dx.doi.org/10.1007/s00401-020-02138-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244617PMC
June 2020
10.762 Impact Factor

Complement deposition at the neuromuscular junction in seronegative myasthenia gravis.

Acta Neuropathol 2020 Jun 10;139(6):1119-1122. Epub 2020 Mar 10.

Department of Neurology and NeuroCure Clinical Research Center, Berlin Institute of Health (BIH), Charité-Universitätsmedizin, Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s00401-020-02147-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244604PMC

DNA methylation age acceleration is associated with ALS age of onset and survival.

Acta Neuropathol 2020 May 7;139(5):943-946. Epub 2020 Mar 7.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Ave., Toronto, ON, M5T 2S8, Canada.

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http://dx.doi.org/10.1007/s00401-020-02131-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181538PMC

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Acta Neuropathol 2020 Jun 2;139(6):1115-1118. Epub 2020 Mar 2.

Department of Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s00401-020-02139-5DOI Listing

rs4147929 variant minor allele increases ABCA7 gene expression and ABCA7 shows increased gene expression in Alzheimer's disease patients compared with controls.

Acta Neuropathol 2020 May 29;139(5):937-940. Epub 2020 Feb 29.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Room 1037, Donghuajinzuo, Guanganmennei Street, XiCheng District, Beijing, 100053, China.

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http://dx.doi.org/10.1007/s00401-020-02135-9DOI Listing

Expression of ABCA7 in Alzheimer's disease.

Authors:
Kristel Sleegers

Acta Neuropathol 2020 May 28;139(5):941-942. Epub 2020 Feb 28.

Neurodegenerative Brain Diseases Group, VIB-Center for Molecular Neurology, University of Antwerp-CDE, Universiteitsplein 1, 2610, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-020-02136-8DOI Listing

Histopathology of diffusion-weighted imaging-positive lesions in cerebral amyloid angiopathy.

Acta Neuropathol 2020 May 27;139(5):799-812. Epub 2020 Feb 27.

MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital and Harvard Medical School, 114 16th Street, Charlestown, MA, 02129, USA.

Small subclinical hyperintense lesions are frequently encountered on brain diffusion-weighted imaging (DWI) scans of patients with cerebral amyloid angiopathy (CAA). Interpretation of these DWI+ lesions, however, has been limited by absence of histopathological examination. We aimed to determine whether DWI+ lesions represent acute microinfarcts on histopathology in brains with advanced CAA, using a combined in vivo MRI-ex vivo MRI-histopathology approach. Read More

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http://dx.doi.org/10.1007/s00401-020-02140-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185568PMC