Read by QxMD icon Read

Neuropathology and Applied Neurobiology

Rita Guerreiro, Tatiana Orme, Adam C Naj, Amanda B Kuzma, Gerard D Schellenberg, J Bras
Murray and colleagues [1] reported the occurrence of pathologically-confirmed Alzheimer's disease (AD) in cases harbouring the TREM2 p.R47H variant only when APOE ε4 alleles were also present. They suggested that the presence of an ε4 APOE allele is necessary for the development of AD pathology in TREM2 p.R47H carriers. This is an important hypothesis as it can have significant impact on individual risk assessment and on understanding the mechanisms of disease. This article is protected by copyright. All rights reserved...
September 19, 2018: Neuropathology and Applied Neurobiology
Lilli Winter, Andreas Unger, Carolin Berwanger, Marina Spörrer, Matthias Türk, Frederic Chevessier, Karl-Heinz Strucksberg, Ursula Schlötzer-Schrehardt, Ilka Wittig, Wolfgang H Goldmann, Katrin Marcus, Wolfgang A Linke, Christoph S Clemen, Rolf Schröder
AIMS: We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin. METHODS: We used hetero- and homozygous R349P desmin knock-in mice for analyses and for crossbreeding with p53 knock-out mice to generate immortalized R349P desmin knock-in skeletal muscle myoblasts and myotubes...
September 4, 2018: Neuropathology and Applied Neurobiology
B Baldo, S Gabery, R Soylu-Kucharz, R Y Cheong, J B Henningsen, E Englund, C McLean, D Kirik, G Halliday, Å Petersén
AIMS: Metabolic dysfunction is involved in modulating the disease process in Huntington disease (HD) but the underlying mechanisms are not known. The aim of this study was to investigate if the metabolic regulators sirtuins are affected in HD. METHODS: Quantitative real-time polymerase chain reactions were used to assess levels of SIRT1-3 and downstream targets in post mortem brain tissue from HD patients and control cases as well as after selective hypothalamic expression of mutant huntingtin (HTT) using recombinant adeno-associated viral vectors in mice...
July 18, 2018: Neuropathology and Applied Neurobiology
A K L Liu, E J Lim, I Ahmed, R C-C Chang, R K B Pearce, S M Gentleman
Although the nucleus of the vertical limb of the diagonal band of Broca (nvlDBB) is the second largest cholinergic nucleus in the basal forebrain, after the nucleus basalis of Meynert, it has not generally been a focus for studies of neurodegenerative disorders. However, the nvlDBB has an important projection to the hippocampus and discrete lesions of the rostral basal forebrain have been shown to disrupt retrieval memory function, a major deficit seen in patients with Lewy body disorders. One reason for its neglect is that the anatomical boundaries of the nvlDBB are ill defined and this area of the brain is not part of routine diagnostic sampling protocols...
July 13, 2018: Neuropathology and Applied Neurobiology
A P Kiely, J S Miners, R Courtney, C Strand, S Love, J L Holton
AIMS: There is evidence that accumulation of α-synuclein (α-syn) in Parkinson's disease (PD) and dementia with Lewy bodies (DLB) results from impaired removal of α-syn rather than its overproduction. Kallikrein-6 (KLK6), calpain-1 (CAPN1) and cathepsin-D (CTSD) are among a small number of proteases that cleave α-syn and are dysregulated in PD and DLB. Our aim in this study was to determine whether protease activity is altered in another α-synucleinopathy, multiple system atrophy (MSA), and might thereby modulate the regional distribution of α-syn accumulation...
July 11, 2018: Neuropathology and Applied Neurobiology
J A Cotter, A R Judkins
No abstract text is available yet for this article.
October 2018: Neuropathology and Applied Neurobiology
S Lehmann, E Esch, P Hartmann, A Goswami, S Nikolin, J Weis, C Beyer, S Johann
AIMS: Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of motoneurons and progressive muscle wasting. Inflammatory processes, mediated by non-neuronal cells, such as glial cells, are known to contribute to disease progression. Inflammasomes consist of pattern recognition receptors (PRRs), apoptosis-associated speck-like protein (ASC) and caspase 1 and are essential for interleukin (IL) processing and a rapid immune response after tissue damage. Recently, we described inflammasome activation in the spinal cord of ALS patients and in SOD1(G93A) ALS mice...
October 2018: Neuropathology and Applied Neurobiology
A Hoshi, A Tsunoda, T Yamamoto, M Tada, A Kakita, Y Ugawa
AIMS: Glutamate neurotoxicity plays an important role in the pathogenesis of various neurodegenerative disorders. Many studies have demonstrated that glutamate transporter-1 (GLT-1), the dominant astrocytic glutamate transporter, is significantly reduced in the cerebral cortex of patients with Alzheimer's disease (AD), suggesting that glutamate-mediated excitotoxicity might contribute to the pathogenesis of AD. In a previous study, we have demonstrated marked alterations in the expression of the astrocytic water channel protein aquaporin-4 (AQP4) in relation to amyloid β deposition in human AD brains...
October 2018: Neuropathology and Applied Neurobiology
A Franceschini, R Strammiello, S Capellari, A Giese, P Parchi
AIMS: The aim of this study was to describe the regional profiles of microglial activation in sporadic Creutzfeldt-Jakob disease (sCJD) subtypes and analyse the influence of prion strain, disease duration and codon 129 genotype. METHODS: We studied the amount/severity and distribution of activated microglia, protease-resistant prion protein (PrPSc ) spongiform change, and astrogliosis in eight regions of 57 brains, representative of the entire spectrum of sCJD subtypes...
October 2018: Neuropathology and Applied Neurobiology
A Murakami, M Nakamura, S Kaneko, W-L Lin, D W Dickson, H Kusaka
AIMS: The human epidermal growth factor receptor family consists of four members that belong to the ErbB lineage of proteins (ErbB1-4). Neuregulin-1 (NRG1)/ErbB signalling regulates brain development and function. Abnormalities in this signalling have been implicated in the aetiology or development of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis. So, we aimed at investigating whether the expression of NRG1 or ErbB proteins are altered in progressive supranuclear palsy (PSP)...
October 2018: Neuropathology and Applied Neurobiology
P Štrafela, J Pleško, J Magdič, B Koritnik, A Zupan, D Glavač, M Bresjanac, M Popović
AIMS: This report presents the clinical course, neuropathology and ultrastructure of neuronal tau inclusions of four Slovene relatives with P364S MAPT mutation. METHODS: The clinical history of three out of four P364S MAPT mutation carriers was taken. After formalin fixation, thorough sampling of the central nervous system was followed by paraffin embedding, H&E, Gallyas, Bielschowsky and immunostaining with AT8, anti-3R, anti-4R tau, anti-amyloid-β, anti-TDP43 and anti-alpha-synuclein antibodies...
October 2018: Neuropathology and Applied Neurobiology
D Kirschenbaum, C Hedberg-Oldfors, A Oldfors, E Scherer, H Budka
No abstract text is available yet for this article.
October 2018: Neuropathology and Applied Neurobiology
B Gille, M De Schaepdryver, J Goossens, L Dedeene, J De Vocht, E Oldoni, A Goris, L Van Den Bosch, B Depreitere, K G Claeys, J Tournoy, P Van Damme, K Poesen
AIMS: Amyotrophic lateral sclerosis (ALS) is the most common motor neuron degeneration disease with a diagnostic delay of about 1 year after symptoms onset. In ALS, blood neurofilament light chain (NfL) levels are elevated, but it is not entirely clear what drives this increase and what the diagnostic performance of serum NfL is in terms of predictive values and likelihood ratios. The aims of this study were to further explore the prognostic and diagnostic performances of serum NfL to discriminate between patients with ALS and ALS mimics, and to investigate the relationship between serum NfL with motor neuron degeneration...
June 16, 2018: Neuropathology and Applied Neurobiology
J J Pruzin, P T Nelson, E L Abner, Z Arvanitakis
Type 2 diabetes (T2D) and Alzheimer's disease (AD) are both highly prevalent diseases worldwide, and each is associated with high-morbidity and high-mortality. Numerous clinical studies have consistently shown that T2D confers a two-fold increased risk for a dementia, including dementia attributable to AD. Yet, the mechanisms underlying this relationship, especially nonvascular mechanisms, remain debated. Cerebral vascular disease (CVD) is likely to be playing a role. But increased AD neuropathologic changes (ADNC), specifically neuritic amyloid plaques (AP) and neurofibrillary tangles (NFT), are also posited mechanisms...
June 2018: Neuropathology and Applied Neurobiology
S Dooves, M Bugiani, L E Wisse, T E M Abbink, M S van der Knaap, V M Heine
AIM: Vanishing White Matter (VWM) is a devastating leucoencephalopathy without effective treatment options. Patients have mutations in the EIF2B1-5 genes, encoding the five subunits of eIF2B, a guanine exchange factor that is an important regulator of protein translation. We recently developed mouse models for VWM that replicate the human disease. To study disease improvement after treatment in these mice, it is essential to have sensitive biomarkers related to disease stage. The Bergmann glia of the cerebellum, an astrocytic subpopulation, translocate into the molecular layer in symptomatic VWM mice and patients...
June 2018: Neuropathology and Applied Neurobiology
A H Hainsworth, S Lee, P Foot, A Patel, W W Poon, A E Knight
AIMS: The spatial resolution of light microscopy is limited by the wavelength of visible light (the 'diffraction limit', approximately 250 nm). Resolution of sub-cellular structures, smaller than this limit, is possible with super resolution methods such as stochastic optical reconstruction microscopy (STORM) and super-resolution optical fluctuation imaging (SOFI). We aimed to resolve subcellular structures (axons, myelin sheaths and astrocytic processes) within intact white matter, using STORM and SOFI...
June 2018: Neuropathology and Applied Neurobiology
S Russi, D Sansonno, S Monaco, S Mariotto, S Ferrari, F Pavone, G Lauletta, F Dammacco
AIMS: Peripheral neuropathy (PN), the major neurological complication of chronic HCV infection, is frequently associated with mixed cryoglobulinaemia (MC) and small-vessel systemic vasculitis. While humoral and cell-mediated immune mechanisms are suspected to act together in an aberrant immune response that results in peripheral nerve damage, the role of HCV remains largely speculative. The possible demonstration of HCV in peripheral nerve tissue would obviously assume important pathogenic implications...
June 2018: Neuropathology and Applied Neurobiology
C Bridel, M J A Koel-Simmelink, L Peferoen, C Derada Troletti, S Durieux, R Gorter, E Nutma, P Gami, E Iacobaeus, L Brundin, J Kuhle, H Vrenken, J Killestein, S R Piersma, T V Pham, H E De Vries, S Amor, C R Jimenez, C E Teunissen
AIMS: Cell matrix modulating protein SPARCL-1 is highly expressed by astrocytes during CNS development and following acute CNS damage. Applying NanoLC-MS/MS to CSF of RRMS and SPMS patients, we identified SPARCL-1 as differentially expressed between these two stages of MS, suggesting a potential as CSF biomarker to differentiate RRMS from SPMS and a role in MS pathogenesis. METHODS: This study examines the potential of SPARCL-1 as CSF biomarker discriminating RRMS from SPMS in three independent cohorts (n = 249), analyses its expression pattern in MS lesions (n = 26), and studies its regulation in cultured human brain microvasculature endothelial cells (BEC) after exposure to MS-relevant inflammatory mediators...
June 2018: Neuropathology and Applied Neurobiology
D Carassiti, D R Altmann, N Petrova, B Pakkenberg, F Scaravilli, K Schmierer
AIMS: Indices of brain volume [grey matter, white matter (WM), 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...
June 2018: Neuropathology and Applied Neurobiology
A L Görtz, L A N Peferoen, W H Gerritsen, J M van Noort, M Bugiani, S 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...
June 2018: Neuropathology and Applied Neurobiology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"