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Neuropathology and Applied Neurobiology

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https://www.readbyqxmd.com/read/28489313/in-utero-seizures-revealing-dentato-olivary-dysplasia-caused-by-scn2a-mutation
#1
Fanny Sauvestre, Sébastien Moutton, Catherine Badens, Bernard Broussin, Dominique Carles, Nada Houcinat, Caroline Lacoste, Florent Marguet, Christophe Pecheux, Laurent Villard, Fanny Pelluard, Annie Laquerrière, Gwenaëlle André
Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28489263/diagnostic-anoctamin-5-protein-defect-in-patients-with-ano5-mutated-muscular-dystrophy
#2
A Vihola, H Luque, M Savarese, S Penttilä, M Lindfors, F Leturcq, B Eymard, G Tasca, B Brais, T Conte, K Charton, I Richard, B Udd
AIMS: Previously, detection of ANO5 protein has been complicated by unspecific antibodies, most of which have not identified the correct protein. The aims of the study were to specify ANO5 protein expression in human skeletal muscle, and to investigate if the ANO5 protein levels are affected by different ANO5 mutations in anoctaminopathy patients. METHODS: Four different antibodies were tested for ANO5 specificity. A sample preparation method compatible with membrane proteins, combined with tissue fractionation was used to determine ANO5 expression in cell cultures expressing ANO5, in normal muscles and eight patient biopsies with six different ANO5 mutations in homozygous or compound heterozygous states, and in other dystrophies...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28455903/the-physiologic-phosphorylation-of-tau-is-critically-changed-in-fetal-brains-of-individuals-with-down-syndrome
#3
Ivan Milenkovic, Jasna Jarc, Eva Dassler, Eleonora Aronica, Anand Iyer, Homa Adle-Biassette, Anke Scharrer, Theresa Reischer, Johannes A Hainfellner, Gabor G Kovacs
AIMS: Down syndrome (DS) is a common cause of mental retardation accompanied by cognitive impairment. Comprehensive studies suggested a link between development and ageing, as nearly all individuals with DS develop Alzheimer disease (AD)-like pathology. However, there is still a paucity of data on tau in early DS to support this notion. METHODS: Using morphometric immunohistochemistry we compared tau phosphorylation in normal brains and in brains of individuals with DS from early development until early postnatal life...
April 28, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28453876/age-associated-changes-in-the-blood-brain-barrier-comparative-studies-in-human-and-mouse
#4
Emily F Goodall, Chunfang Wang, Julie E Simpson, David J Baker, David R Drew, Paul R Heath, M Jill Saffrey, Ignacio A Romero, Stephen B Wharton
AIMS: While vascular pathology is a common feature of a range of neurodegenerative diseases, we hypothesised that vascular changes occur in association with normal ageing. Therefore we aimed to characterise age-associated changes in the blood brain barrier (BBB) in human and mouse cohorts. METHODS: Immunohistochemistry and Evans Blue assays were used to characterise BBB dysfunction (tight junction protein expression and serum plasma protein accumulation), vascular pathology (pericyte loss and vascular density) and glial pathology (astrocyte and microglial density) in ageing neurological control human pre-frontal cortex (a total of 23 cases from 5 age groups representing the spectrum of young adult to old age: 20-30yrs, 31-45yrs, 46-60yrs, 61-75yrs and 75+) and C57BL/6 mice (3 month, 12 month, 18 month and 24 month, n=5/6 per group)...
April 28, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28419506/neuronal-loss-demyelination-and-volume-change-in-the-multiple-sclerosis-neocortex
#5
D Carassiti, D R Altmann, N Petrova, B Pakkenberg, F Scaravilli, K Schmierer
AIMS: Indices of brain volume (grey matter, white matter, lesions) are being used as outcomes in clinical trials of patients with multiple sclerosis (MS). We investigated the relationship between cortical volume, the number of neocortical neurons estimated using stereology, and demyelination. METHODS: Nine MS and seven control hemispheres were dissected into coronal slices. On sections stained for Giemsa, the cortex was outlined and optical disectors applied using systematic uniform random sampling...
April 18, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28403515/an-aggressive-multifocal-primary-cns-histiocytosis-with-ptpn11-shp2-mutation
#6
Qi Zhang, Areej Shibani, Bekim Sadikovic, Christopher J Howlett, Lee-Cyn Ang
Primary histiocytic tumors of the CNS are rare. The current WHO classification (2016) included 5 entities: Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and histiocytic sarcoma (HS) (1). The diagnosis usually is made based on the tumor differentiation as to the counterpart in normal histiocyte development. This article is protected by copyright. All rights reserved.
April 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28398599/hippocampal-sclerosis-and-mesial-temporal-lobe-epilepsy-in-chorea-acanthocytosis-a-case-with-clinical-pathologic-and-genetic-evaluation
#7
Karin Mente, Sun A Kim, Christopher Grunseich, Marco M Hefti, John F Crary, Adrian Danek, Barbara I Karp, Ruth H Walker
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurodegenerative disease associated with mutations in VPS13A that encodes the protein chorein. ChAc is characterized by progressive chorea, dystonia, and psychiatric symptoms, developing in young adulthood, often with acanthocytosis in peripheral blood. Tongue protrusion, or feeding dystonia, is common, as are seizures and neuropathy [1]. On neuropathology, there is basal ganglia atrophy, neuronal loss, and gliosis, especially in the caudate nucleus [2]...
April 11, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28386933/novel-conformation-selective-alpha-synuclein-antibodies-raised-against-different-in-vitro-fibril-forms-show-distinct-patterns-of-lewy-pathology-in-parkinson-s-disease
#8
Dustin J Covell, John L Robinson, Rizwan S Akhtar, Murray Grossman, Daniel Weintraub, Hannah M Bucklin, Rose M Pitkin, Dawn Riddle, Ahmed Yousef, John Q Trojanowski, Virginia M-Y Lee
AIMS: The aim of this study was to test the hypothesis that different conformations of misfolded α-synuclein (α-syn) are present in Parkinson's disease (PD) brain. METHODS: Using two previously characterized conformations of α-syn fibrils, we generated new conformation-selective, α-syn monoclonal antibodies (mAbs). We then interrogated multiple brain regions in a well-characterized autopsy cohort of PD patients (n = 49) with these mAbs, Syn7015 and Syn9029. RESULTS: Syn7015 detects Lewy bodies (LBs) and Lewy neurites (LNs) formed by pathological α-syn in all brain regions tested, and is particularly sensitive to LNs and small Lewy dots, inclusions believed to form early in the disease...
April 7, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28370398/tau-aggregates-where-when-why-and-what-consequences
#9
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
April 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28370167/tau-aggregates-where-when-why-and-what-consequences
#10
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
March 30, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28319253/heat-shock-protein-expression-in-cerebral-x-linked-adrenoleukodystrophy-reveals-astrocyte-stress-prior-to-myelin-loss
#11
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
#12
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/27859539/clinicopathologic-heterogeneity-in-frontotemporal-dementia-and-parkinsonism-linked-to-chromosome-17-ftdp-17-due-to-microtubule-associated-protein-tau-mapt-p-p301l-mutation-including-a-patient-with-globular-glial-tauopathy
#13
P Tacik, M Sanchez-Contreras, M DeTure, M E Murray, R Rademakers, O A Ross, Z K Wszolek, J E Parisi, D S Knopman, R C Petersen, D W Dickson
AIM: The p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to p.P301L mutation. METHODS: Genealogical, clinical, neuropathologic and genetic data were reviewed from eight individuals. RESULTS: The series consisted of five men and three women with an average age of death of 58 years (52-65 years) and average disease duration of 9 years (3-14 years)...
April 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27219822/k27m-mutation-in-h3f3a-in-ganglioglioma-grade-i-with-spontaneous-malignant-transformation-extends-the-histopathological-spectrum-of-the-histone-h3-oncogenic-pathway
#14
LETTER
N Joyon, A Tauziède-Espariat, A Alentorn, M Giry, D Castel, L Capelle, M Zanello, P Varlet, F Bielle
No abstract text is available yet for this article.
April 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26990710/medulloblastoma-with-extensive-nodularity-a-tumour-exclusively-of-infancy
#15
LETTER
Marco Gessi, Tobias Goschzik, Evelyn Dörner, Kathrin Söldner, Christine Schupp, Torsten Pietsch
No abstract text is available yet for this article.
April 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26946354/met-immunolabelling-is-a-useful-predictive-tool-for-met-gene-amplification-in-glioblastoma
#16
F Burel-Vandenbos, M Ngo-Mai, B Dadone, I Di Mauro, S Gimet, E Saada-Bouzid, V Bourg, F Almairac, D Fontaine, T Virolle, F Pedeutour
AIMS: MET gene amplification is rare in glioblastoma (GBM) and represents a potential target for MET inhibitors. An immunohistochemical screening may be useful to identify MET amplification. The aim of our study was to establish how MET immunolabelling correlates with MET amplification. METHODS: Three cohorts including 108 GBM (cohort 1, prospective), 104 GBM (cohort 2, retrospective) and 52 GBM (cohort 3, prospective) were investigated for MET expression by immunohistochemistry...
April 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26785938/axonal-motor-protein-kif5a-and-associated-cargo-deficits-in-multiple-sclerosis-lesional-and-normal-appearing-white-matter
#17
K Hares, J Redondo, K Kemp, C Rice, N Scolding, A Wilkins
AIMS: Understanding the causes of axonal pathology remains a key goal in the pursuit of new therapies to target disease progression in multiple sclerosis (MS). Anterograde axonal transport of many proteins vital for axonal viability is mediated by the motor protein KIF5A, which has been linked to several neurological diseases. This study aimed to investigate the expression of KIF5A protein and its associated cargoes: amyloid precursor protein (APP) and neurofilament (NF) in post mortem MS and control white matter (WM) and to determine if KIF5A expression is influenced by the presence of MS risk single nucleotide polymorphisms (SNPs) identified in the region of the KIF5A gene...
April 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26750308/altered-trafficking-of-abnormal-prion-protein-in-atypical-scrapie-prion-protein-accumulation-in-oligodendroglial-inner-mesaxons
#18
M Jeffrey, L González, M M Simmons, N Hunter, S Martin, G McGovern
AIMS: Prion diseases exist in classical and atypical disease forms. Both forms are characterized by disease-associated accumulation of a host membrane sialoglycoprotein known as prion protein (PrP(d) ). In classical forms of prion diseases, PrP(d) can accumulate in the extracellular space as fibrillar amyloid, intracellularly within lysosomes, but mainly on membranes in association with unique and characteristic membrane pathology. These membrane changes are found in all species and strains of classical prion diseases and consist of spiral, branched and clathrin-coated membrane invaginations on dendrites...
April 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
#19
M-Y Son, H Sim, Y S Son, K B Jung, M-O Lee, J-H Oh, S-K Chung, C-R Jung, J 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 harbouring 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
#20
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
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