journal
Journals Neuropathology and Applied Neu...

Neuropathology and Applied Neurobiology

https://read.qxmd.com/read/38112248/filipin-complex-reactive-brain-lesions-a-cautionary-tale
#21
JOURNAL ARTICLE
Adeline A Lau, Paul J Trim, Barbara M King, Sofia Hassiotis, Ya Hui Hung, Ashley I Bush, Marten F Snel, Kim M Hemsley
OBJECTIVE: Filipin complex is an autooxidation-prone fluorescent histochemical stain used in the diagnosis of Niemann-Pick Disease Type C (NP-C), a neurodegenerative lysosomal storage disorder. It is also widely used by researchers examining the distribution and accumulation of unesterified cholesterol in cell and animal models of neurodegenerative diseases including NP-C and Sanfilippo syndrome (mucopolysaccharidosis IIIA; MPS IIIA). Recently, it has been suggested to be useful in studying Alzheimer's and Huntington's disease...
December 19, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38112166/analysis-of-a-pituitary-tumour-with-histological-features-of-central-neurocytoma-points-towards-the-emergence-of-a-new-entity-recognizable-by-a-specific-epigenetic-signature
#22
JOURNAL ARTICLE
Catherine Godfraind, Marie Coutelier, Daniel Pissaloux, Fabien Forest, Fanny Vandenbos, Martin Hasselblatt, Jean Boutonnat, Aurélien Coste, Sylvie Lantuejoul, Anne Mc Leer
No abstract text is available yet for this article.
December 19, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38112165/molecular-refinement-of-pilocytic-astrocytoma-in-adult-patients
#23
JOURNAL ARTICLE
Helena Bode, Catena Kresbach, Dörthe Holdhof, Mario M Dorostkar, Patrick N Harter, Jürgen Hench, Stephan Frank, Abigail K Suwala, Leonille Schweizer, Alicia Eckhardt, Sina Neyazi, Michael Bockmayr, Annika K Wefers, Ulrich Schüller
AIM: Pilocytic astrocytomas (PA) in adults are rare and may be challenging to identify based only on histomorphology. Compared to their paediatric counterparts, they are reportedly molecularly more diverse and associated with a worse prognosis. We aimed to describe the characteristics of adult PAs more precisely by comprehensively profiling a series of 79 histologically diagnosed adult cases (≥18 years). METHODS: We performed global DNA methylation profiling and DNA and RNA panel sequencing, and integrated the results with clinical data...
December 19, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38102845/lmnb1-duplication-mediated-nuclear-architecture-alteration-and-demyelination-of-cerebral-white-matter-in-a-patient-with-adld
#24
JOURNAL ARTICLE
Vincent Roy, Isabella Bienjonetti, Alyssa Brodeur, Laurence Dion-Albert, Lydia Touzel-Deschênes, Peter V Gould, Stephan Saikali, Robert Jr Laforce, François Gros-Louis
No abstract text is available yet for this article.
December 15, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38093468/identifying-diagnostic-and-prognostic-factors-in-cerebral-amyloid-angiopathy-related-inflammation-a-systematic-analysis-of-published-and-seven-new-cases
#25
JOURNAL ARTICLE
Levente Szalardy, Bernadett Fakan, Rita Maszlag-Torok, Emil Ferencz, Zita Reisz, Bence L Radics, Sandor Csizmadia, Laszlo Szpisjak, Adam Annus, Denes Zadori, Gabor G Kovacs, Peter Klivenyi
AIMS: Cerebral amyloid angiopathy-related inflammation (CAA-RI) is a potentially reversible manifestation of CAA, histopathologically characterised by transmural and/or perivascular inflammatory infiltrates. We aimed to identify clinical, radiological, and laboratory variables capable of improving or supporting the diagnosis of or predicting/influencing the prognosis of CAA-RI and to retrospectively evaluate different therapeutic approaches. METHODS: We present clinical and neuroradiological observations in seven unpublished CAA-RI cases, including neuropathological findings in two definite cases...
December 13, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38093348/wnt-activated-myc-amplified-medulloblastoma-displaying-intratumoural-heterogeneity
#26
JOURNAL ARTICLE
S Green, T Hoover, D Doss, K Davidow, A W Walter, C E Cottrell, S Mahapatra
No abstract text is available yet for this article.
December 13, 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38148722/the-importance-of-patient-centred-drug-development-for-amyotrophic-lateral-sclerosis
#27
LETTER
Matthew C Kiernan, Glenda M Halliday, Dominic B Rowe, Rachel H Tan
No abstract text is available yet for this article.
December 2023: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/37812040/quantitative-cellular-changes-in-multiple-system-atrophy-brains
#28
REVIEW
Alberte M Andersen, Sanne S Kaalund, Lisbeth Marner, Lisette Salvesen, Bente Pakkenberg, Mikkel V Olesen
Multiple system atrophy (MSA) is a neurodegenerative disorder characterised 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 summarise 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...
December 2023: 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
#29
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
#30
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/37889099/cu-ii-atsm-significantly-decreases-microglial-reactivity-in-patients-with-sporadic-amyotrophic-lateral-sclerosis
#31
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/37771048/morphological-alterations-of-the-neuronal-golgi-apparatus-upon-seizures
#32
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
#33
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
#34
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
#35
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
#36
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
#37
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/37565253/methyl-donor-supplementation-reduces-phospho-tau-fyn-and-demethylated-pp2a-levels-and-mitigates-learning-and-motor-deficits-in-a-mouse-model-of-tauopathy
#38
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
#39
(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
#40
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
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