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Neuropathology and Applied Neurobiology

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https://www.readbyqxmd.com/read/28319253/heat-shock-protein-expression-in-cerebral-x-linked-adrenoleukodystrophy-reveals-astrocyte-stress-prior-to-myelin-loss
#1
Anna Lena Görtz, Laura A N Peferoen, Wouter H Gerritsen, Johannes M van Noort, Marianna Bugiani, Sandra Amor
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long chain fatty acids. Inflammation in the brain white matter is a hallmark of the pathology of cerebral X-ALD, but the underlying pathogenic mechanisms are still largely unknown. In other inflammatory demyelinating disorders such as multiple sclerosis, the expression of heat shock proteins (HSPs) in combination with interferon-γ (IFN-γ) has been suggested to play a prominent role in the initiation of demyelination and inflammation...
March 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28295484/who-2016-classification-changes-and-advancements-in-the-diagnosis-of-miscellaneous-primary-cns-tumours
#2
Felix Sahm, David E Reuss, Caterina Giannini
This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal non-meningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding "hybrid nerve sheath tumours" to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term solitary SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells...
March 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28235153/distinctive-genomic-signature-of-neural-and-intestinal-organoids-from-familial-parkinson-s-disease-patient-derived-induced-pluripotent-stem-cells
#3
Mi-Young Son, Hyuna Sim, Ye Seul Son, Kwang Bo Jung, Mi-Ok Lee, Jung-Hwa Oh, Sun-Ku Chung, Cho-Rok Jung, Janghwan Kim
AIMS: The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is the most common genetic cause of Parkinson's disease (PD). There is compelling evidence that PD is not only a brain disease but also a gastrointestinal disorder; nonetheless, its pathogenesis remains unclear. We aimed to develop human neural and intestinal tissue models of PD patients harboring an LRRK2 mutation to understand the link between LRRK2 and PD pathology by investigating the gene expression signature. METHODS: We generated PD patient-specific induced pluripotent stem cells (iPSCs) carrying an LRRK2 G2019S mutation (LK2GS) and then differentiated into three-dimensional (3D) human neuroectodermal spheres (hNESs) and human intestinal organoids (hIOs)...
February 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28218954/response-to-comment-on-human-adult-neurogenesis-across-the-ages-an-immunohistochemical-study
#4
LETTER
C V Dennis, L S Suh, M L Rodriguez, J J Kril, G T Sutherland
It is with great interest that we read the comment by Marucci [1] referring to our publication "Human adult neurogenesis across the ages: An immunohistochemical study" [2]. Since the seminal paper of Eriksson et al. in 1998, human adult neurogenesis has become a major area of research in neuroscience [3]. Although an age-related decline in human adult neurogenesis is not disputed, opinions differ on the functional significance of the residual neuroblasts. This article is protected by copyright. All rights reserved...
February 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28218953/glial-papillary-tumour-of-the-spinal-cord-with-smarcb1-ini1-loss-and-favourable-long-term-outcome
#5
Martin Hasselblatt, Anastasia Dewi Kurniawan, Stephanie Rozsnoki, Pascal D Johann, Susanne Bens, Florian Oyen, Reinhard Schneppenheim, Reiner Siebert, David Capper, Marcel Kool, Christoph Schul, Werner Paulus
Rhabdoid phenotype and biallelic mutations of the SMARCB1 gene causing loss of SMARCB1/INI1 protein expression are the hallmark of atypical teratoid/rhabdoid tumour (AT/RT), a highly malignant central nervous system tumour mainly affecting infants [1]. Loss of SMARCB1/INI1 protein expression has also been described in a variety of other rhabdoid and non-rhabdoid tumour entities including cribriform neuroepithelial tumour (CRINET) [2], poorly differentiated chordoma [3] as well as rhabdoid peripheral nerve sheath tumour [4] and familial schwannomatosis [5]...
February 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28181693/frontotemporal-lobar-degeneration-tdp-with-multiple-system-atrophy-phenocopy-syndrome
#6
Ana Luísa Sousa, Ricardo Taipa, Niall Quinn, Tamas Revesz, Manuel Melo Pires, Marina Magalhães
Multiple system atrophy (MSA) is a neurodegenerative disorder presenting with parkinsonism, cerebellar involvement, autonomic dysfunction and pyramidal signs (1). Two main clinical subtypes of MSA are recognized: a parkinsonian-type (MSA-P) associated with predominant nigrostriatal degeneration and a cerebellar-type (MSA-C) with predominant olivopontocerebellar atrophy. A 'definite' diagnosis requires pathological confirmation with demonstration of glial cytoplasmic inclusions comprising alpha-synuclein protein aggregates (1)...
February 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28117917/quantifying-the-accretion-of-hyperphosphorylated-tau-in-the-locus-coeruleus-and-dorsal-raphe-nucleus-the-pathological-building-blocks-of-early-alzheimer-s-disease
#7
Alexander J Ehrenberg, Austin K Nguy, Panos Theofilas, Sara Dunlop, Claudia K Suemoto, Ana T D L Alho, Renata Paraizo Leite, Roberta Diehl Rodriguez, Maria B Mejia, Udo Rüb, Jose M Farfel, Renata Eloah de Lucena Ferretti-Rebustini, Camila F Nascimento, Ricardo Nitrini, Carlos Augusto Pasquallucci, Wilson Jacob-Filho, Bruce Miller, William W Seeley, Helmut Heinsen, Lea T Grinberg
AIMS: Hyperphosphorylated tau-neuronal cytoplasmic inclusions (ht-NCI) are the best protein correlate of clinical decline in Alzheimer's disease (AD). Qualitative evidence identifies ht-NCI accumulating in the isodendritic core before the entorhinal cortex. Here, we used unbiased stereology to quantify ht-NCI burden in the locus coeruleus and dorsal raphe nucleus, aiming to characterize the impact of AD pathology in these nuclei with a focus on early stages. METHODS: We utilized unbiased stereology in a sample of 48 well-characterized subjects enriched for controls and early AD stages...
January 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28117912/locus-coeruleus-at-asymptomatic-early-and-middle-braak-stages-of-neurofibrillary-tangle-pathology
#8
Pol Andrés-Benito, Victor Fernández-Dueñas, Margarita Carmona, Luis Alberto Escobar, Benjamín Torrejón-Escribano, Ester Aso, Francisco Ciruela, Isidro Ferrer
AIMS: The present study analyzes molecular characteristics of the locus coeruleus (LC) and projections to the amygdala and hippocampus at asymptomatic early and middle Braak stages of neurofibrillary tangle (NFT) pathology. METHODS: Immunohistochemistry, whole transcriptome arrays and RT-qPCR in LC, and western blotting in hippocampus and amygdala in a cohort of asymptomatic individuals at stages I-IV of NFT pathology were used. RESULTS: NFTs in the LC increased in parallel with co-localized expression of tau-kinases; increased neuroketal adducts and decreased superoxide dismutase 1 in neurons with hyper-phosphorylated tau, and decreased VDAC in neurons containing truncated tau were found...
January 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28054381/rhabdoid-component-emerging-as-a-subclonal-evolution-of-paediatric-glioneuronal-tumours
#9
A Bertrand, C Rondenet, J Masliah-Planchon, P Leblond, A de la Fourchardière, D Pissaloux, K Aït-Raïs, D Lequin, A Jouvet, P Freneaux, H Sevestre, D Ranchere-Vince, A Tauziede-Espariat, C-A Maurage, K Silva, G Pierron, O Delattre, P Varlet, D Frappaz, F Bourdeaut
AIMS: Our study aimed to expand the knowledge of a rare entity: glioma with a rhabdoid component (RC). METHODS: We collected French pediatric patients < 18 years presenting a glioma harboring a RC, either at diagnosis or during evolution. We described clinical, pathological and genetic data. RESULTS: We report 4 further cases of supratentorial pediatric patients presenting glioneuronal tumor with a RC and homozygous deletion of SMARCB1 either at diagnosis or during evolution...
January 5, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28054371/review-tau-in-biofluids-relation-to-pathology-imaging-and-clinical-features
#10
Henrik Zetterberg
Tau is a microtubule-binding protein that is important for the stability of neuronal axons. It is normally expressed within neurons and is also secreted into the brain interstitial fluid that communicates freely with cerebrospinal fluid (CSF) and, in a more restricted manner, blood via the glymphatic clearance system of the brain. In Alzheimer's disease (AD), neuroaxonal degeneration results in increased release of tau from neurons. Further, tau is truncated and phosphorylated, which leads to aggregation of tau in neurofibrillary tangles of the proximal axoplasm...
January 5, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28039950/ageing-causes-prominent-neurovascular-dysfunction-associated-with-loss-of-astrocytic-contacts-and-gliosis
#11
Jessica Duncombe, Ross J Lennen, Maurits A Jansen, Ian Marshall, Joanna M Wardlaw, Karen Horsburgh
AIMS: Normal neurovascular coupling, mediated by the fine interplay and communication of cells within the neurovascular unit, is critical for maintaining normal brain activity and cognitive function. This study investigated whether, with advancing age there is disruption of neurovascular coupling and specific cellular components of the neurovascular unit, and whether the effects of increasing amyloid (a key feature of Alzheimer's disease) would exacerbate these changes. METHODS: Wild-type mice, in which amyloid deposition is absent, were compared to transgenic APP littermates (TgSwDI) which develop age-dependent increases in amyloid...
December 31, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28039900/evidence-of-early-defects-in-cajal-retzius-cell-localisation-during-brain-development-in-a-mouse-model-of-dystroglycanopathy
#12
H S Booler, V Pagalday-Vergara, J L Williams, M Hopkinson, S C Brown
AIMS: The secondary dystroglycanopathies represent a heterogeneous group of congenital muscular dystrophies characterised by the defective glycosylation of alpha dystroglycan. These disorders are associated with mutations in at least 17 genes, including Fukutin-related protein (FKRP). At the severe end of the clinical spectrum there is substantial brain involvement, and cobblestone lissencephaly is highly suggestive of these disorders. The precise pathogenesis of this phenotype has however, remained unclear with most attention focused on the disruption to the radial glial scaffold...
December 31, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28039872/commentary-on-human-adult-neurogenesis-across-the-ages-an-immunohistochemical-study
#13
LETTER
Gianluca Marucci
I have read with great interest the paper entitled "Human adult neurogenesis across the ages: An immunohistochemical study" by Dennis et al [1]. The Authors evaluated cell proliferation and neurogenesis in the subventricular zone (SVZ) and subgranular zone (SGZ) of 23 individuals aged 0.2-59 years, using immunohistochemistry and immunofluorescence. The Authors evidenced a marked decline in neurogenesis in both neurogenic niches in early childhood and that after 3 years of age, microglia were the only proliferating cells found in either niche or in the adjacent parenchyma...
December 31, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28301090/in-this-issue
#14
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28297097/recent-advances-in-myopathology
#15
EDITORIAL
Werner Stenzel, Hans-Hilmar Goebel
No abstract text is available yet for this article.
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28244126/proceedings-of-the-118th-meeting-of-the-british-neuropathological-society-royal-college-of-physicians-london-uk-1-3-march-2017
#16
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28111795/myopathology-in-times-of-modern-imaging
#17
REVIEW
H Jungbluth
Over the last two decades, muscle (magnetic resonance) imaging has become an important complementary tool in the diagnosis and differential diagnosis of inherited neuromuscular disorders, particularly in conditions where the pattern of selective muscle involvement is often more predictive of the underlying genetic background than associated clinical and histopathological features. Following an overview of different imaging modalities, the present review will give a concise introduction to systematic image analysis and interpretation in genetic neuromuscular disorders...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28111778/sporadic-inclusion-body-myositis-a-myodegenerative-disease-or-an-inflammatory-myopathy
#18
REVIEW
C C Weihl, A L Mammen
Sporadic inclusion body myositis (sIBM) is an insidious late-onset progressive myopathy that typically affects patients over the age of 50. Clinically, patients develop a characteristic pattern of weakness that affects the forearm flexors and knee extensors. Muscle biopsy, often utilized in the diagnosis, demonstrates a chronic myopathy with mixed pathologies harbouring intramyofiber protein inclusions and endomysial inflammation. The co-existence of these pathologic features (that is, inflammation and protein aggregation) has divided the field of sIBM research into two opposing (albeit slowly unifying) camps regarding disease pathogenesis...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28075491/integrated-classification-of-inflammatory-myopathies
#19
REVIEW
Y Allenbach, O Benveniste, H-H Goebel, W Stenzel
Inflammatory myopathies comprise a multitude of diverse diseases, most often occurring in complex clinical settings. To ensure accurate diagnosis, multidisciplinary expertise is required. Here, we propose a comprehensive myositis classification that incorporates clinical, morphological and molecular data as well as autoantibody profile. This review focuses on recent advances in myositis research, in particular, the correlation between autoantibodies and morphological or clinical phenotypes that can be used as the basis for an 'integrated' classification system...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28009443/myopathology-in-the-times-of-modern-genetics
#20
REVIEW
M Schuelke, N C Øien, A Oldfors
The advent of Next Generation Sequencing (NGS) technologies has accelerated the rate of novel disease gene discovery. Analysis of the large datasets generated by whole exome sequencing, whole genome sequencing, and other NGS approaches poses a challenge to physicians and pathologists searching for disease causing variants amongst the 50 000-3 million polymorphisms typically seen in these datasets. This review describes strategies that successfully combine classical neuropathological investigation (e.g. histology, immunostaining and electron microscopy) with modern NGS technologies to pinpoint the underlying genetic cause of a disease...
February 2017: Neuropathology and Applied Neurobiology
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