journal
https://read.qxmd.com/read/38602336/detection-of-ptdp-43-via-routine-muscle-biopsy-a-promising-diagnostic-biomarker-for-amyotrophic-lateral-sclerosis
#1
JOURNAL ARTICLE
Qi-Jie Zhang, Jie Lin, You-Liang Wang, Long Chen, Ying Ding, Fu-Ze Zheng, Huan-Huan Song, Ao-Wei Lv, Yu-Ying Li, Qi-Fu Guo, Min-Ting Lin, Wei Hu, Liu-Qing Xu, Wen-Long Zhao, Ling Fang, Meng-Chao Cui, Zhi-Fei Fu, Wan-Jin Chen, Jing Zhang, Zhi-Qiang Wang, Ning Wang, Ying Fu
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, pathologically characterized by TDP-43 aggregates. Recent evidence has been indicated that phosphorylated TDP-43 (pTDP-43) is present not only in motor neurons but also in muscle tissues. However, it is unclear whether testing pTDP-43 aggregation in muscle tissue would assist in the diagnosis of ALS. We propose three key questions: (i) Is aggregation of pTDP-43 detectable in routine biopsied muscles? (ii) Can detection of pTDP-43 aggregation discriminate between ALS and non-ALS patients? (iii) Can pTDP-43 aggregation be observed in the early stages of ALS? We conducted a diagnostic study comprising 2 groups: an ALS group in which 18 cases underwent muscle biopsy screened from a registered ALS cohort consisting of 802 patients and a non-ALS control group, in which we randomly selected 54 muscle samples from a biospecimen bank of 684 patients...
April 11, 2024: Brain Pathology
https://read.qxmd.com/read/38600765/a-supratentorial-mass-in-a-young-adult-with-25%C3%A2-years-of-follow-up
#2
Francesca Baciorri, Samantha Sarcognato, Francesco Di Paola, Evelina Miele, Sabrina Rossi
No abstract text is available yet for this article.
April 10, 2024: Brain Pathology
https://read.qxmd.com/read/38565263/a-comprehensive-histomolecular-characterization-of-meningioangiomatosis-further-evidence-for-a-precursor-neoplastic-lesion
#3
JOURNAL ARTICLE
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Philipp Sievers, Felix Sahm, Volodia Dangouloff-Ros, Nathalie Boddaert, Lauren Hasty, Oumaima Aboubakr, Alice Métais, Fabrice Chrétien, Alexandre Roux, Johan Pallud, Thomas Blauwblomme, Kévin Beccaria, Franck Bourdeaut, Stéphanie Puget, Pascale Varlet
Meningioangiomatosis (MAM) remains a poorly understood lesion responsible for epileptic disease. In the past, MAM was primarily described in the context of neurofibromatosis type 2 before being mainly reported sporadically. Moreover, the malformative or tumoral nature is still debated. Because a subset of MAM are associated with meningiomas, some authors argue that MAM corresponds to an infiltration pattern of these tumors. For these reasons, MAM has not been added to the World Health Organization (WHO) Classification of Central Nervous System Tumors as a specific entity...
April 2, 2024: Brain Pathology
https://read.qxmd.com/read/38527786/a-mass-in-the-pineal-region-of-a-young-woman
#4
Lorraina J Robinson, Eric Goold, David Anderson, Robert C Rennert, William T Couldwell, Changhong Xing
No abstract text is available yet for this article.
March 25, 2024: Brain Pathology
https://read.qxmd.com/read/38523251/nab2-stat6-fusions-and-genome-wide-dna-methylation-profiling-predictors-of-patient-outcomes-in-meningeal-solitary-fibrous-tumors
#5
JOURNAL ARTICLE
Kathryn L Eschbacher, Quynh T Tran, Evgeny A Moskalev, Sarah Jenkins, Karen Fritchie, Robert Stoehr, Alissa Caron, Michael J Link, Paul D Brown, Andrew Guajardo, Daniel J Brat, Ashley Wu, Sandro Santagata, David N Louis, Priscilla K Brastianos, Alexander B Kaplan, Brian Alexander, Sabrina Rossi, Fabio Ferrarese, David R Raleigh, Minh P Nguyen, John Gross, Jose Velazquez Vega, Fausto Rodriguez, Arie Perry, Maria Martinez-Lage, Brent A Orr, Florian Haller, Caterina Giannini
Meningeal solitary fibrous tumors (SFT) are rare and have a high frequency of local recurrence and distant metastasis. In a cohort of 126 patients (57 female, 69 male; mean age at surgery 53.0 years) with pathologically confirmed meningeal SFTs with extended clinical follow-up (median 9.9 years; range 15 days-43 years), we performed extensive molecular characterization including genome-wide DNA methylation profiling (n = 80) and targeted TERT promoter mutation testing (n = 98)...
March 24, 2024: Brain Pathology
https://read.qxmd.com/read/38504469/oligodendrocyte-progenitor-cells-fate-after-neonatal-asphyxia-puzzling-implications-for-the-development-of-hypoxic-ischemic-encephalopathy
#6
JOURNAL ARTICLE
Justyna Janowska, Justyna Gargas, Karolina Zajdel, Michal Wieteska, Kamil Lipinski, Malgorzata Ziemka-Nalecz, Malgorzata Frontczak-Baniewicz, Joanna Sypecka
Premature birth or complications during labor can cause temporary disruption of cerebral blood flow, often followed by long-term disturbances in brain development called hypoxic-ischemic (HI) encephalopathy. Diffuse damage to the white matter is the most frequently detected pathology in this condition. We hypothesized that oligodendrocyte progenitor cell (OPC) differentiation disturbed by mild neonatal asphyxia may affect the viability, maturation, and physiological functioning of oligodendrocytes. To address this issue, we studied the effect of temporal HI in the in vivo model in P7 rats with magnetic resonance imaging (MRI), microscopy techniques and biochemical analyses...
March 19, 2024: Brain Pathology
https://read.qxmd.com/read/38454310/astrocytic-phagocytosis-in-the-medial-prefrontal-cortex-jeopardises-postoperative-memory-consolidation-in-mice
#7
JOURNAL ARTICLE
Xin Ma, Yuan Le, Lin Hu, Wen Ouyang, Cheng Li, Daqing Ma, Jianbin Tong
Memory impairment is one of the main characteristics of postoperative cognitive dysfunction. It remains elusive how postoperative pathological changes of the brain link to the memory impairment. The clinical setting of perioperation was mimicked via partial hepatectomy under sevoflurane anaesthesia together with preoperative restraint stress (Hep-Sev-stress) in mice. Memory changes were assessed with fear conditioning. The medial prefrontal cortex (mPFC)-dorsal hippocampus connectivity was evaluated with injecting neurotracer 28 days before surgery...
March 7, 2024: Brain Pathology
https://read.qxmd.com/read/38454306/dysregulation-of-the-renin-angiotensin-system-in-vascular-dementia
#8
JOURNAL ARTICLE
H M Tayler, O A Skrobot, D H Baron, P G Kehoe, J S Miners
The renin-angiotensin system (RAS) regulates systemic and cerebral blood flow and is dysregulated in dementia. The major aim of this study was to determine if RAS signalling is dysregulated in vascular dementia. We measured markers of RAS signalling in white matter underlying the frontal and occipital cortex in neuropathologically confirmed cases of vascular dementia (n = 42), Alzheimer's disease (n = 50), mixed AD/VaD (n = 50) and age-matched controls (n = 50)...
March 7, 2024: Brain Pathology
https://read.qxmd.com/read/38454090/neuropathological-stage-dependent-proteome-mapping-of-the-olfactory-tract-in-alzheimer-s-disease-from-early-olfactory-related-omics-signatures-to-computational-repurposing-of-drug-candidates
#9
JOURNAL ARTICLE
Paz Cartas-Cejudo, Adriana Cortés, Mercedes Lachén-Montes, Elena Anaya-Cubero, Elena Puerta, Maite Solas, Joaquín Fernández-Irigoyen, Enrique Santamaría
Alzheimer's disease (AD) is the most common form of dementia, characterized by an early olfactory dysfunction, progressive memory loss, and behavioral deterioration. Albeit substantial progress has been made in characterizing AD-associated molecular and cellular events, there is an unmet clinical need for new therapies. In this study, olfactory tract proteotyping performed in controls and AD subjects (n = 17/group) showed a Braak stage-dependent proteostatic impairment accompanied by the progressive modulation of amyloid precursor protein and tau functional interactomes...
March 7, 2024: Brain Pathology
https://read.qxmd.com/read/38418081/huntingtin-cag-repeats-in-neuropathologically-confirmed-tauopathies-novel-insights
#10
JOURNAL ARTICLE
Sergio Pérez-Oliveira, Juan Castilla-Silgado, Cèlia Painous, Iban Aldecoa, Manuel Menéndez-González, Marta Blázquez-Estrada, Daniela Corte, Cristina Tomás-Zapico, Yaroslau Compta, Esteban Muñoz, Albert Lladó, Mircea Balasa, Gemma Aragonès, Pablo García-González, Maitée Rosende-Roca, Mercè Boada, Agustín Ruíz, Pau Pastor, Beatriz De la Casa-Fages, Alberto Rabano, Raquel Sánchez-Valle, Laura Molina-Porcel, Victoria Álvarez
Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening. We genotyped the HTT gene CAG repeat number and APOE-ℰ isoforms in a cohort of patients with neuropathological diagnoses of tauopathies (n=588), including 34 corticobasal degeneration (CBD), 98 progressive supranuclear palsy (PSP) and 456 Alzheimer's disease (AD)...
February 28, 2024: Brain Pathology
https://read.qxmd.com/read/38374326/ranking-and-filtering-of-neuropathology-features-in-the-machine-learning-evaluation-of-dementia-studies
#11
JOURNAL ARTICLE
Mohammed D Rajab, Teruka Taketa, Stephen B Wharton, Dennis Wang
Early diagnosis of dementia diseases, such as Alzheimer's disease, is difficult because of the time and resources needed to perform neuropsychological and pathological assessments. Given the increasing use of machine learning methods to evaluate neuropathology features in the brains of dementia patients, it is important to investigate how the selection of features may be impacted and which features are most important for the classification of dementia. We objectively assessed neuropathology features using machine learning techniques for filtering features in two independent ageing cohorts, the Cognitive Function and Aging Studies (CFAS) and Alzheimer's Disease Neuroimaging Initiative (ADNI)...
February 19, 2024: Brain Pathology
https://read.qxmd.com/read/38355114/a-7-year-old-boy-presented-with-temporal-lobe-lesion
#12
Manli Zhao, Tingting Huang, Xueping Xiang, Yang Liu, Weizhong Gu, Lei Liu, Hongfeng Tang, Jinghong Xu, Jianhua Mao
No abstract text is available yet for this article.
February 14, 2024: Brain Pathology
https://read.qxmd.com/read/38354695/astrocyte-derived-interleukin-31-causes-poor-prognosis-in-elderly-patients-with-intracerebral-hemorrhage
#13
JOURNAL ARTICLE
Rui Jiang, Zhichao Lu, Chenxing Wang, WenJun Tu, Qi Yao, Jiabing Shen, Xingjia Zhu, Ziheng Wang, Yixun Chen, Yang Yang, Kaijiang Kang, Peipei Gong
The incidence of intracerebral hemorrhage (ICH) is increasing every year, with very high rates of mortality and disability. The prognosis of elderly ICH patients is extremely unfavorable. Interleukin, as an important participant in building the inflammatory microenvironment of the central nervous system after ICH, has long been the focus of neuroimmunology research. However, there are no studies on the role IL31 play in the pathologic process of ICH. We collected para-lesion tissue for immunofluorescence and flow cytometry from the elderly and young ICH patients who underwent surgery...
February 14, 2024: Brain Pathology
https://read.qxmd.com/read/38316409/a-24-year-old-woman-with-a-recurrent-intracranial-mass
#14
Yan Peng, Wei Zhao, Dachuan Zhang, Xie Gao, Yongqiang Shi, Qing Li, Jian Wang
No abstract text is available yet for this article.
February 5, 2024: Brain Pathology
https://read.qxmd.com/read/38308041/transient-receptor-potential-vanilloid-1-inhibition-reduces-brain-damage-by-suppressing-neuronal-apoptosis-after-intracerebral-hemorrhage
#15
JOURNAL ARTICLE
Chien-Cheng Chen, Chia-Hua Ke, Chun-Hu Wu, Hung-Fu Lee, Yuan Chao, Min-Chien Tsai, Song-Kun Shyue, Szu-Fu Chen
Intracerebral hemorrhage (ICH) induces a complex sequence of apoptotic cascades and inflammatory responses, leading to neurological impairment. Transient receptor potential vanilloid 1 (TRPV1), a nonselective cation channel with high calcium permeability, has been implicated in neuronal apoptosis and inflammatory responses. This study used a mouse ICH model and neuronal cultures to examine whether TRPV1 activation exacerbates brain damage and neurological deficits by promoting neuronal apoptosis and neuroinflammation...
February 2, 2024: Brain Pathology
https://read.qxmd.com/read/38270230/apolipoprotein-e-genotyping-in-formalin-fixed-and-paraffin-embedded-post-mortem-brain-tissue
#16
LETTER
James Minshull, Yvonne Davidson, Federico Roncaroli, Andrew C Robinson
Formalin-fixed paraffin-embedded (FFPE) brain tissue held in tissue banks constitutes a valuable research resource, especially when associated with clinical annotations and longitudinal psychometric testing. Apolipoprotein-E (APOE) genotyping is important to fully characterise this resource, however older FFPE tissue may not be suitable for genotyping. We performed polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assays on DNA extracted from post-mortem FFPE brain tissue ranging from 2-19 years old...
January 25, 2024: Brain Pathology
https://read.qxmd.com/read/38254312/the-relation-between-btk-expression-and-iron-accumulation-of-myeloid-cells-in-multiple-sclerosis
#17
JOURNAL ARTICLE
Anja Steinmaurer, Christian Riedl, Theresa König, Giulia Testa, Ulrike Köck, Jan Bauer, Hans Lassmann, Romana Höftberger, Thomas Berger, Isabella Wimmer, Simon Hametner
Activation of Bruton's tyrosine kinase (BTK) has been shown to play a crucial role in the proinflammatory response of B cells and myeloid cells upon engagement with B cell, Fc, Toll-like receptor, and distinct chemokine receptors. Previous reports suggest BTK actively contributes to the pathogenesis of multiple sclerosis (MS). The BTK inhibitor Evobrutinib has been shown to reduce the numbers of gadolinium-enhancing lesions and relapses in relapsing-remitting MS patients. In vitro, BTK inhibition resulted in reduced phagocytic activity and modulated BTK-dependent inflammatory signaling of microglia and macrophages...
January 22, 2024: Brain Pathology
https://read.qxmd.com/read/38247340/proteomic-analysis-identifies-hsp90aa1-ptk2b-and-anxa2-in-the-human-entorhinal-cortex-in-alzheimer-s-disease-potential-role-in-synaptic-homeostasis-and-a%C3%AE-pathology-through-microglial-and-astroglial-cells
#18
JOURNAL ARTICLE
Veronica Astillero-Lopez, Sandra Villar-Conde, Melania Gonzalez-Rodriguez, Alicia Flores-Cuadrado, Isabel Ubeda-Banon, Daniel Saiz-Sanchez, Alino Martinez-Marcos
Alzheimer's disease (AD), the most prevalent neurodegenerative disorder worldwide, is clinically characterized by cognitive deficits. Neuropathologically, AD brains accumulate deposits of amyloid-β (Aβ) and tau proteins. Furthermore, these misfolded proteins can propagate from cell to cell in a prion-like manner and induce native proteins to become pathological. The entorhinal cortex (EC) is among the earliest areas affected by tau accumulation along with volume reduction and neurodegeneration. Neuron-glia interactions have recently come into focus; however, the role of microglia and astroglia in the pathogenesis of AD remains unclear...
January 22, 2024: Brain Pathology
https://read.qxmd.com/read/38246596/induced-pluripotent-stem-cell-models-as-a-tool-to-investigate-and-test-fluid-biomarkers-in-alzheimer-s-disease-and-frontotemporal-dementia
#19
REVIEW
Julie J McInvale, Peter Canoll, Gunnar Hargus
Neurodegenerative diseases are increasing in prevalence and comprise a large socioeconomic burden on patients and their caretakers. The need for effective therapies and avenues for disease prevention and monitoring is of paramount importance. Fluid biomarkers for neurodegenerative diseases have gained a variety of uses, including informing participant selection for clinical trials, lending confidence to clinical diagnosis and disease staging, determining prognosis, and monitoring therapeutic response. Their role is expected to grow as disease-modifying therapies start to be available to a broader range of patients and as prevention strategies become established...
January 21, 2024: Brain Pathology
https://read.qxmd.com/read/37972988/degeneration-of-olivospinal-tract-in-the-upper-cervical-spinal-cord-of-multiple-system-atrophy-patients-reappraisal-of-helweg-s-triangular-tract
#20
JOURNAL ARTICLE
Takashi Ando, Yuichi Riku, Akio Akagi, Hiroaki Miyahara, Takashi Uematsu, Ikuko Aiba, Jun Sone, Masahisa Katsuno, Mari Yoshida, Yasushi Iwasaki
Multiple system atrophy (MSA) is an adult-onset neurodegenerative disorder that presents with variable combinations of autonomic dysfunction, cerebellar ataxia, parkinsonism, and pyramidal signs. The inferior olivary nucleus is targeted in MSA, with a phenotype of olivopontocerebellar atrophy in particular, and involvement of the olivocerebellar tract is well known. However, degeneration of the olivospinal tract has not been studied in MSA. We examined 97 spinal cords from consecutively autopsied patients with MSA...
May 2024: Brain Pathology
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