journal
Journals Neuropathology and Applied Neu...

Neuropathology and Applied Neurobiology

https://read.qxmd.com/read/37818590/rna-sequencing-of-peripheral-blood-in-amyotrophic-lateral-sclerosis-reveals-distinct-molecular-subtypes-considerations-for-biomarker-discovery
#1
JOURNAL ARTICLE
Natalie Grima, Sidong Liu, Dean Southwood, Lyndal Henden, Andrew Smith, Albert Lee, Dominic B Rowe, Susan D'Silva, Ian P Blair, Kelly L Williams
AIM: Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease with limited therapeutic options. A key factor limiting the development of effective therapeutics is the lack of disease biomarkers. We sought to assess whether biomarkers for diagnosis, prognosis or cohort stratification could be identified by RNA sequencing (RNA-seq) of ALS patient peripheral blood. METHODS: Whole blood RNA-seq data were generated for 96 Australian sporadic ALS (sALS) cases and 48 healthy controls (NCBI GEO accession GSE234297)...
October 11, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37812061/a-high-throughput-single-cell-rna-expression-profiling-method-identifies-human-pericyte-markers
#2
JOURNAL ARTICLE
Andras Sziraki, Yu Zhong, Allison M Neltner, Dana Niedowicz, Colin B Rogers, Donna M Wilcock, Geetika Nehra, Janna H Neltner, Rebecca R Smith, Anika M Hartz, Junyue Cao, Peter T Nelson
AIMS: We sought to identify and optimize a universally available histological marker for pericytes in the human brain. Such a marker could be a useful tool for researchers. Further, identifying a gene expressed relatively specifically in human pericytes could provide new insights into the biological functions of this fascinating cell type. METHODS: We analysed single-cell RNA expression profiles derived from different human and mouse brain regions using a high-throughput and low-cost single-cell transcriptome sequencing method called EasySci...
October 9, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37812040/quantitative-cellular-changes-in-multiple-system-atrophy-brains
#3
REVIEW
Alberte M Andersen, Sanne S Kaalund, Lisbeth Marner, Lisette Salvesen, Bente Pakkenberg, Mikkel V Olesen
Multiple System Atrophy (MSA) is a neurodegenerative disorder characterized by a combined symptomatology of parkinsonism, cerebellar ataxia, autonomic failure, and corticospinal dysfunction. In brains of MSA patients, the hallmark lesion is the aggregation of misfolded alpha-synuclein in oligodendrocytes. Even though the underlying pathological mechanisms remain poorly understood, the evidence suggests that alpha-synuclein aggregation in oligodendrocytes may contribute to the neurodegeneration seen in MSA. The primary aim of this review is to summarize the published stereological data on the total number of neurons and glial cell subtypes (oligodendrocytes, astrocytes, and microglia), and volumes in brains from MSA patients...
October 9, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37771048/morphological-alterations-of-the-neuronal-golgi-apparatus-upon-seizures
#4
JOURNAL ARTICLE
Anna Skupien-Jaroszek, Andrzej A Szczepankiewicz, Andrzej Rysz, Andrzej Marchel, Ewa Matyja, Wiesława Grajkowska, Grzegorz M Wilczynski, Joanna Dzwonek
AIMS: Epilepsy is one of the most common chronic neurological disorders, affecting around 50 million people worldwide, but its underlying cellular and molecular events are not fully understood. The Golgi is a highly dynamic cellular organelle and can be fragmented into ministacks under both physiological and pathological conditions. This phenomenon has also been observed in several neurodegenerative disorders, however, the structure of the Golgi apparatus (GA) in human patients suffering from epilepsy has not been described so far...
September 28, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37766395/brain-pathology-of-lissencephaly-type-2-with-an-ispd-pathogenic-variant
#5
JOURNAL ARTICLE
Julia Keith, Patrick Shannon
No abstract text is available yet for this article.
September 27, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37740653/hippocampal-and-neocortical-braf-mutant-non-expansive-lesions-in-focal-epilepsies
#6
JOURNAL ARTICLE
Julie Lerond, Bertrand Mathon, Mélina Scopin, Lucia Nichelli, Justine Guégan, Céline Bertholle, Brigitte Izac, Muriel Andrieu, Thomas Gareau, Florian Donneger, Badreddine Mohand Oumoussa, Franck Letourneur, Suzanne Tran, Mathilde Bertrand, Isabelle Le Roux, Mehdi Touat, Sophie Dupont, Jean Christophe Poncer, Vincent Navarro, Franck Bielle
OBJECTIVE: Mesial Temporal Lobe Epilepsy-associated Hippocampal Sclerosis (MTLE-HS) is a syndrome associated with various aetiologies. We previously identified CD34-positive extravascular stellate cells (CD34+ cells) possibly related to BRAFV600E oncogenic variant in a subset of MTLE-HS. We aimed to identify the BRAFV600E oncogenic variants and characterise the CD34+ cells. METHODS: We analysed BRAFV600E oncogenic variant by digital droplet Polymerase Chain Reaction in 53 MTLE-HS samples (25 with CD34+ cells) and 9 non-expansive neocortical lesions resected during epilepsy surgery (5 with CD34+ cells)...
September 23, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37705255/an-autopsy-case-of-late-onset-spinocerebellar-atrophy-type-14
#7
JOURNAL ARTICLE
Kyoka Ogawa, Yukiko Hata, Shojiro Ichimata, Koji Yoshida, Naoki Nishida
No abstract text is available yet for this article.
September 13, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37705188/fibroblast-growth-factor-9-fgf9-mediated-neurodegeneration-implications-for-progressive-multiple-sclerosis
#8
JOURNAL ARTICLE
Katja Thümmler, Claudia Wrzos, Jonas Franz, Daniel McElroy, John J Cole, Lorna Hayden, Diana Arseni, Friedrich Schwarz, Andreas Junker, Julia M Edgar, Sebastian Kügler, Andreas Neef, Fred Wolf, Christine Stadelmann, Christopher Linington
AIMS: Fibroblast growth factor (FGF) signalling is dysregulated in multiple sclerosis (MS) and other neurological and psychiatric conditions, but there is little or no consensus as to how individual FGF family members contribute to disease pathogenesis. Lesion development in MS is associated with increased expression of FGF1, FGF2 and FGF9, all of which modulate remyelination in a variety of experimental settings. However, FGF9 is also selectively upregulated in major depressive disorder (MDD) prompting us to speculate it may also have a direct effect on neuronal function and survival...
September 13, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37705167/phosphorylation-of-map-1a-regulates-hyperphosphorylation-of-tau-in-alzheimer-s-disease-model
#9
JOURNAL ARTICLE
Biao Cai, Nan Shao, Ting Ye, Peng Zhou, Wenwen Si, Hang Song, Guangyun Wang, Junping Kou
BACKGROUND AND PURPOSE: Hyperphosphorylation of Tau is one of the important pathological features of Alzheimer's disease (AD). Therefore, studying the mechanisms behind Tau hyperphosphorylation is crucial in exploring the pathogenesis of neurological damage in AD. METHODS: In this study, after the establishment of rat models of AD, quantitative phosphoproteomics and proteomics were performed to identify proteins, showing that phosphorylation of microtubule associated protein 1A (MAP 1A) was lower in the model group...
September 13, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37889099/cu-ii-atsm-significantly-decreases-microglial-reactivity-in-patients-with-sporadic-amyotrophic-lateral-sclerosis
#10
LETTER
Jeffrey R Liddell, James B W Hilton, Peter J Crouch
No abstract text is available yet for this article.
October 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37565253/methyl-donor-supplementation-reduces-phospho-tau-fyn-and-demethylated-pp2a-levels-and-mitigates-learning-and-motor-deficits-in-a-mouse-model-of-tauopathy
#11
JOURNAL ARTICLE
Annika van Hummel, Goce Taleski, Jean-Marie Sontag, Astrid Feentje Feiten, Yazi D Ke, Lars M Ittner, Estelle Sontag
BACKGROUND: Reduced folate status and elevated levels of circulating homocysteine are modifiable risk factors for cognitive decline and dementia. Disturbances in one-carbon metabolism are associated with the pathological accumulation of phosphorylated tau, a hallmark feature of prevalent dementia, including Alzheimer's disease and subgroups of frontotemporal dementia. METHODS: Here, using transgenic TAU58/2 mouse models of human tauopathy, we tested whether dietary supplementation with L-methylfolate (the active folate form), choline and betaine can reduce tau phosphorylation and associated behavioural phenotypes...
August 11, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37644740/nanoscale-reorganisation-of-synaptic-proteins-in-alzheimer-s-disease
#12
(no author information available yet)
No abstract text is available yet for this article.
August 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37524406/first-report-of-medulloblastoma-in-a-patient-with-mutyh-associated-polyposis
#13
JOURNAL ARTICLE
Marie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, Bruno Buecher, Lisa Golmard, Voreak Suybeng, Mathias Schwartz, Ivan Bieche, Sophie Vacher, Valérie Laurence, Franck Bourdeaut, Michèle Bernier, Tom Gutman, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Chrystelle Colas
AIMS: The mutY DNA glycosylase encoded by the MUTYH gene prevents G:C→T:A transversions through the base excision repair DNA repair system. Germline biallelic pathogenic variants in MUTYH cause an adenomatous polyposis called MUTYH-associated polyposis (MAP), an autosomal recessive disease (OMIM: 608456), with an increased risk of colorectal cancer. Digestive lesions in this context show an excess of G:C→T:A transversions, individualising a specific mutational signature associated with MUTYH deficiency called signature SBS36...
July 31, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37503540/a-threshold-for-mitotic-activity-and-post-surgical-residual-volume-defines-distinct-prognostic-groups-for-astrocytoma-idh-mutant
#14
JOURNAL ARTICLE
Suzanne Tran, Alice Thomas, Ilyes Aliouat, Carine Karachi, Fernando Lozano, Karima Mokhtari, Caroline Dehais, Loïc Feuvret, Catherine Carpentier, Marine Giry, Habiba Doukani, Julie Lerond, Yannick Marie, Marc Sanson, Ahmed Idbaih, Alexandre Carpentier, Khê Hoang-Xuan, Mehdi Touat, Laurent Capelle, Franck Bielle
AIMS: The distinction between CNS WHO grade 2 and grade 3 is instrumental in choosing between observational follow-up and adjuvant treatment for resected astrocytomas IDH-mutant. However, the criteria of CNS WHO grade 2 versus 3 have not been updated since the pre-IDH era. METHODS: Maximal mitotic activity in consecutive high-power fields corresponding to 3 mm2 was examined for 118 lower-grade astrocytomas IDH-mutant. The prognostic value for time-to-treatment (TTT) and overall survival (OS) of mitotic activity and other putative prognostic factors (including age, performance status, pre-surgical tumour volume, multilobar involvement, post-surgical residual tumour volume, midline involvement) was assessed for tumours with ATRX loss and the absence of CDKN2A homozygous deletion or CDK4 amplification, contrast enhancement, histological necrosis, and microvascular proliferation...
July 28, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37495513/adult-onset-alexander-disease-with-unusual-inflammatory-features-and-a-novel-gfap-mutation-in-2-patients
#15
JOURNAL ARTICLE
Fouzia Ziad, Gert Cypers, Matthew Phillips, Piet Vanhoenacker, Arne Hostens, Satish Yadavraj, Duncan Lamont, Thomas Robertson
No abstract text is available yet for this article.
July 26, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37483117/ectopic-expression-of-neuronal-adenosine-kinase-a-biomarker-in-mesial-temporal-lobe-epilepsy-without-hippocampal-sclerosis
#16
JOURNAL ARTICLE
Mengyi Guo, Jing Wang, Zhonghua Xiong, Xiongfei Wang, Yujiao Yang, Yifan Zhang, Chongyang Tang, Jing Zhang, Yuguang Guan, Fan Chen, Kun Yao, Pengfei Teng, Jian Zhou, Feng Zhai, Detlev Boison, Guoming Luan, Tianfu Li
AIMS: Mesial temporal lobe epilepsy without hippocampal sclerosis (no-HS MTLE) refers to those MTLE patients who have neither MRI lesions nor definite pathological evidence of hippocampal sclerosis. They usually have resistance to antiepileptic drugs, difficulties in precise seizure location and poor surgical outcomes. Adenosine is a neuroprotective neuromodulator which acts as a seizure terminator in the brain. The role of adenosine in no-HS MTLE is still unclear. Further research to explore the aetiology and pathogenesis of no-HS MTLE may help to find new therapeutic targets...
July 22, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37465879/neuromuscular-junction-denervation-and-terminal-schwann-cell-loss-in-the-htdp-43-overexpression-mouse-model-of-amyotrophic-lateral-sclerosis-als
#17
JOURNAL ARTICLE
Abrar Alhindi, Megan Shand, Hannah L Smith, Ana S Leite, Yu-Ting Huang, Dinja van der Hoorn, Zara Ridgway, Kiterie M E Faller, Ross A Jones, Thomas H Gillingwater, Helena Chaytow
AIMS: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with complex aetiology. Despite evidence of neuromuscular junction (NMJ) denervation and 'dying-back' pathology in models of SOD1-dependent ALS, evidence in other genetic forms of ALS is limited by a lack of suitable animal models. TDP-43, a key mediator protein in ALS, is overexpressed in neurons in Thy1-hTDP-43WT mice. We therefore aimed to comprehensively analyse NMJ pathology in this model of ALS. METHODS: Expression of TDP-43 was assessed via western blotting...
July 19, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37462105/insights-into-the-pathological-basis-of-dementia-from-population-based-neuropathology-studies
#18
REVIEW
S B Wharton, J E Simpson, P G Ince, C D Richardson, R Merrick, F E Matthews, C Brayne
The epidemiological neuropathology perspective of population and community-based studies allows unbiased assessment of the prevalence of various pathologies and their relationships to late-life dementia. In addition, this approach provides complementary insights to conventional case-control studies, which tend to be more representative of a younger clinical cohort. The Cognitive Function and Ageing Study (CFAS) is a longitudinal study of cognitive impairment and frailty in the general United Kingdom population...
July 18, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37461203/nanoscale-reorganization-of-synaptic-proteins-in-alzheimer-s-disease
#19
JOURNAL ARTICLE
Wang-Hui Zhu, Xiao-Xu Yang, Xu-Zhuo Gou, Shu-Mei Fu, Jia-Hui Chen, Feng Gao, Yong Shen, Dan-Lei Bi, Ai-Hui Tang
AIMS: Synaptic strength depends strongly on the subsynaptic organization of presynaptic transmitter release and postsynaptic receptor densities, and their alterations are expected to underlie pathologies. While synaptic dysfunctions are common pathogenic traits of Alzheimer's disease (AD), it remains unknown whether synaptic protein nano-organization is altered in AD. Here, we systematically characterized the alterations in the subsynaptic organization in cellular and mouse models of AD...
July 17, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37431095/past-antihypertensive-medication-use-is-associated-with-lower-levels-of-small-vessel-disease-and-lower-a%C3%AE-plaque-stage-in-the-brains-of-older-individuals
#20
JOURNAL ARTICLE
Andrew J Affleck, Perminder S Sachdev, Glenda M Halliday
AIMS: This study assesses the association of antihypertensive medication use on the severities of neuropathological cerebrovascular disease (CVD excluding lobar infarction) in older individuals. METHODS: Clinical and neuropathological data were retrieved for 149 autopsy cases >75 years old with or without CVD or Alzheimer's disease and no other neuropathological diagnoses. Clinical data included hypertension status, hypertension diagnosis, antihypertensive medication use, antihypertensive medication dose (where available) and clinical dementia rating (CDR)...
July 10, 2023: Neuropathology and Applied Neurobiology
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