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Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-20 Ann-Kristin Afflerbach, Anne Albers, Anton Appelt, Leonille Schweizer, Werner Paulus, Michael Bockmayr, Ulrich Schüller, Christian Thomas
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Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-19 Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A. Finch, Matthew C. Baker, Cyril Pottier, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F. Gendron, Dennis W. Dickson, Rosa Rademakers, Marka van Blitterswijk
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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-18 Esmat Karimi, Jochen Gohlke, Mila van der Borgh, Johan Lindqvist, Zaynab Hourani, Justin Kolb, Stacy Cossette, Michael W. Lawlor, Coen Ottenheijm, Henk Granzier
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Histologic correlates of “Choroidal abnormalities” in Neurofibromatosis type 1 (NF1) Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-12 Anat O. Stemmer-Rachamimov, Liana Kozanno, Scott R. Plotkin, Justin T. Jordan, Joseph F. 3rd Rizzo
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Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-10 Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Michael E. Belloy, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Bengisu Turgutalp, Gauthaman Sukumar, Camille Alba, Elisa Martinez McGrath, Daniel N. Hupalo, Dagmar Bacikova, Yann Le Guen, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Tal Nuriel, Nilüfer Ertekin-Taner, Andrew F. Teich, Dennis W. Dickson
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Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-07
Abstract Despite considerable research efforts, it is still not clear which mechanisms underlie neuronal cell death in neurodegenerative diseases. During the last 20 years, multiple pathways have been identified that can execute regulated cell death (RCD). Among these RCD pathways, apoptosis, necroptosis, pyroptosis, ferroptosis, autophagy-related cell death, and lysosome-dependent cell death have
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Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-07
Abstract Mutations in the pivotal metabolic isocitrate dehydrogenase (IDH) enzymes are recognized to drive the molecular footprint of diffuse gliomas, and patients with IDH mutant gliomas have overall favorable outcomes compared to patients with IDH wild-type tumors. However, survival still varies widely among patients with IDH mutated tumors. Here, we aimed to characterize molecular signatures that
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Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-06
Abstract Transcription factor EB (TFEB) is a master regulator of genes involved in the maintenance of autophagic and lysosomal homeostasis, processes which have been implicated in the pathogenesis of GBA-related and sporadic Parkinson’s disease (PD), and dementia with Lewy bodies (DLB). TFEB activation results in its translocation from the cytosol to the nucleus. Here, we investigated TFEB subcellular
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Characterization of monoamine oxidase-B (MAO-B) as a biomarker of reactive astrogliosis in Alzheimer’s disease and related dementias Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-03 Methasit Jaisa-aad, Clara Muñoz-Castro, Molly A. Healey, Bradley T. Hyman, Alberto Serrano-Pozo
Reactive astrogliosis accompanies the two neuropathological hallmarks of Alzheimer’s disease (AD)—Aβ plaques and neurofibrillary tangles—and parallels neurodegeneration in AD and AD-related dementias (ADRD). Thus, there is growing interest in developing imaging and fluid biomarkers of reactive astrogliosis for AD/ADRD diagnosis and prognostication. Monoamine oxidase-B (MAO-B) is emerging as a target
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Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-01
Abstract Human microglia are critically involved in Alzheimer’s disease (AD) progression, as shown by genetic and molecular studies. However, their role in tau pathology progression in human brain has not been well described. Here, we characterized 32 human donors along progression of AD pathology, both in time—from early to late pathology—and in space—from entorhinal cortex (EC), inferior temporal
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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-31 Felipe Correa-da-Silva, Jenny Carter, Xin-Yuan Wang, Rui Sun, Ekta Pathak, José Manuel Monroy Kuhn, Sonja C. Schriever, Clarissa M. Maya-Monteiro, Han Jiao, Martin J. Kalsbeek, Pedro M. M. Moraes-Vieira, Johan J. P. Gille, Margje Sinnema, Constance T. R. M. Stumpel, Leopold M. G. Curfs, Dirk Jan Stenvers, Paul T. Pfluger, Dominik Lutter, Alberto M. Pereira, Andries Kalsbeek, Eric Fliers, Dick F. Swaab
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder of genetic etiology, characterized by paternal deletion of genes located at chromosome 15 in 70% of cases. Two distinct genetic subtypes of PWS deletions are characterized, where type I (PWS T1) carries four extra haploinsufficient genes compared to type II (PWS T2). PWS T1 individuals display more pronounced physiological and cognitive
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Correction: Abeta targets of the biosimilar antibodies of Bapineuzumab, Crenezumab, Solanezumab in comparison to an antibody against N-truncted Abeta in sporadic Alzheimer disease cases and mouse models Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-25 Yvonne Bouter, Jose Socrates Lopez Noguerola, Petra Tucholla, Gabriela A. N. Crespi, Michael W. Parker, Jens Wiltfang, Luke A. Miles, Thomas A. Bayer
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Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-25 Tuancheng Feng, Huan Du, Cha Yang, Ya Wang, Fenghua Hu
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A muscarinic receptor antagonist reverses multiple indices of diabetic peripheral neuropathy: preclinical and clinical studies using oxybutynin Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-25 Carolina M. Casselini, Henri K. Parson, Katie E. Frizzi, Alex Marquez, Darrell R. Smith, Lucie Guernsey, Rakesh Nemmani, Alireza Tayarani, Corinne G. Jolivalt, Jessica Weaver, Paul Fernyhough, Aaron I. Vinik, Nigel A. Calcutt
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TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-25
Abstract TMEM106B is a risk modifier of multiple neurological conditions, where a single coding variant and multiple non-coding SNPs influence the balance between susceptibility and resilience. Two key questions that emerge from past work are whether the lone T185S coding variant contributes to protection, and if the presence of TMEM106B is helpful or harmful in the context of disease. Here, we address
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Disentangling and quantifying the relative cognitive impact of concurrent mixed neurodegenerative pathologies Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-23 Carolina Maldonado-Díaz, Satomi Hiya, Raquel T. Yokoda, Kurt Farrell, Gabriel A. Marx, Justin Kauffman, Elena V. Daoud, Mitzi M. Gonzales, Alicia S. Parker, Leyla Canbeldek, Lakshmi Shree Kulumani Mahadevan, John F. Crary, Charles L. White, Jamie M. Walker, Timothy E. Richardson
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Gene transcript fusions are associated with clinical outcomes and molecular groups of meningiomas Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-20 Naomi Zakimi, Minh P. Nguyen, David R. Raleigh
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Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-13 Christine Marques, Aaron Held, Katherine Dorfman, Joon Sung, Catherine Song, Amey S. Kavuturu, Corey Aguilar, Tommaso Russo, Derek H. Oakley, Mark W. Albers, Bradley T. Hyman, Leonard Petrucelli, Clotilde Lagier-Tourenne, Brian J. Wainger
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MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-12 Hong Xu, Qi Qiu, Peng Hu, Kevt’her Hoxha, Elliot Jang, Mia O’Reilly, Christopher Kim, Zhuohao He, Nicholas Marotta, Lakshmi Changolkar, Bin Zhang, Hao Wu, Gerard D. Schellenberg, Brian Kraemer, Kelvin C. Luk, Edward B. Lee, John Q. Trojanowski, Kurt R. Brunden, Virginia M.-Y. Lee
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Role of GBA variants in Lewy body disease neuropathology Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-12
Abstract Rare and common GBA variants are risk factors for both Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). However, the degree to which GBA variants are associated with neuropathological features in Lewy body disease (LBD) is unknown. Herein, we assessed 943 LBD cases and examined associations of 15 different neuropathological outcomes with common and rare GBA variants. Neuropathological
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Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-12
Abstract Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (SMN1) gene (localized on 5q). In consequence, cells lack expression of the corresponding protein. This pathophysiological condition is clinically associated with motor neuron (MN) degeneration leading to severe muscular atrophy. Additionally, vulnerability
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Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-11
Abstract Parkinson’s disease (PD) starts at the molecular and cellular level long before motor symptoms appear, yet there are no early-stage molecular biomarkers for diagnosis, prognosis prediction, or monitoring therapeutic response. This lack of biomarkers greatly impedes patient care and translational research—l-DOPA remains the standard of care more than 50 years after its introduction. Here, we
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The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-09 Alex D. Waldman, Cecilia Catania, Marco Pisa, Mark Jenkinson, Michael J. Lenardo, Gabriele C. DeLuca
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Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-05 Lingyu Liu, Yuqing Liu, Jing Chen, Tao Jiang, Xing Liu, Ke-Nan Zhang
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RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-05 Holly Spence, Fergal M. Waldron, Rebecca S. Saleeb, Anna-Leigh Brown, Olivia M. Rifai, Martina Gilodi, Fiona Read, Kristine Roberts, Gillian Milne, Debbie Wilkinson, Judi O’Shaughnessy, Annalisa Pastore, Pietro Fratta, Neil Shneider, Gian Gaetano Tartaglia, Elsa Zacco, Mathew H. Horrocks, Jenna M. Gregory
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Astroglial calcium signaling and homeostasis in tuberous sclerosis complex Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-28 Alessia Romagnolo, Giulia Dematteis, Mirte Scheper, Mark J. Luinenburg, Angelika Mühlebner, Wim Van Hecke, Marcello Manfredi, Veronica De Giorgis, Simone Reano, Nicoletta Filigheddu, Valeria Bortolotto, Laura Tapella, Jasper J. Anink, Liesbeth François, Stefanie Dedeurwaerdere, James D. Mills, Armando A. Genazzani, Dmitry Lim, Eleonora Aronica
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Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-27 Sharmistha Mitra, Baozhi Chen, John M. Shelton, Silvia Nitschke, Jun Wu, Lindsay Covington, Mathew Dear, Tori Lynn, Mayank Verma, Felix Nitschke, Yasuhiro Fuseya, Kazuhiro Iwai, Bret M. Evers, Berge A. Minassian
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Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-26 Abigail Alexander, Victor E. Alvarez, Bertrand R. Huber, Michael L. Alosco, Jesse Mez, Yorghos Tripodis, Raymond Nicks, Douglas I. Katz, Brigid Dwyer, Daniel H. Daneshvar, Brett Martin, Joseph Palmisano, Lee E. Goldstein, John F. Crary, Christopher Nowinski, Robert C. Cantu, Neil W. Kowall, Robert A. Stern, Ivana Delalle, Ann C. McKee, Thor D. Stein
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MET receptor serves as a promising target in melanoma brain metastases Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-22 Torben Redmer, Elisa Schumann, Kristin Peters, Martin E. Weidemeier, Stephan Nowak, Henry W. S. Schroeder, Anna Vidal, Helena Radbruch, Annika Lehmann, Susanne Kreuzer-Redmer, Karsten Jürchott, Josefine Radke
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PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-16 Paraskevi Tziortzouda, Jolien Steyaert, Wendy Scheveneels, Adria Sicart, Katarina Stoklund Dittlau, Adriana Margarida Barbosa Correia, Thibaut Burg, Arun Pal, Andreas Hermann, Philip Van Damme, Thomas G. Moens, Ludo Van Den Bosch
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Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-14 Nauman Malik, Mohi-Uddin Miah, Alessandro Galgani, Kirsty McAleese, Lauren Walker, Fiona E. LeBeau, Johannes Attems, Tiago F. Outeiro, Alan Thomas, David J. Koss
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The niche matters: origin, function and fate of CNS-associated macrophages during health and disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-12 Adrià Dalmau Gasull, Martina Glavan, Sai K. Reddy Samawar, Kishan Kapupara, Joe Kelk, Marina Rubio, Stefano Fumagalli, Lydia Sorokin, Denis Vivien, Marco Prinz
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The contribution of β-amyloid, Tau and α-synuclein to blood–brain barrier damage in neurodegenerative disorders Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-12
Abstract Central nervous system (CNS) accumulation of fibrillary deposits made of Amyloid β (Aβ), hyperphosphorylated Tau or α-synuclein (α-syn), present either alone or in the form of mixed pathology, characterizes the most common neurodegenerative diseases (NDDs) as well as the aging brain. Compelling evidence supports that acute neurological disorders, such as traumatic brain injury (TBI) and stroke
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Endothelial cells and macrophages as allies in the healthy and diseased brain Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-12 Adam Denes, Cathrin E. Hansen, Uemit Oezorhan, Sara Figuerola, Helga E. de Vries, Lydia Sorokin, Anna M. Planas, Britta Engelhardt, Markus Schwaninger
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Pineal parenchymal tumors of intermediate differentiation: in need of a stringent definition to avoid confusion. Scientific commentary on ‘Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics’ Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-10 Alexandre Vasiljevic
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“RYR1 and the cerebellum”: scientific commentary on “Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium ‘Leak’ in Tremor Pathophysiology” Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-07 Heinz Jungbluth, Dennis T. Famili, Rick C. Helmich, Stefano Previtali, Nicol C. Voermans
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Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-06
Abstract Synapse loss correlates with cognitive decline in Alzheimer’s disease, and soluble oligomeric amyloid beta (Aβ) is implicated in synaptic dysfunction and loss. An important knowledge gap is the lack of understanding of how Aβ leads to synapse degeneration. In particular, there has been difficulty in determining whether there is a synaptic receptor that binds Aβ and mediates toxicity. While
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Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-03
Abstract The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks of several neurodegenerative diseases and provide a defining criterion for the neuropathologic diagnosis of Limbic-predominant Age-related TDP-43 Encephalopathy (LATE). LATE neuropathologic changes (LATE-NC) are often comorbid with other neurodegenerative pathologies including Alzheimer’s disease neuropathologic
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New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-03 Yong Guo, Verena Endmayr, Anastasia Zekeridou, Andrew McKeon, Frank Leypoldt, Katharina Hess, Alicja Kalinowska-Lyszczarz, Andrea Klang, Akos Pakozdy, Elisabeth Höftberger, Simon Hametner, Carmen Haider, Désirée De Simoni, Sönke Peters, Ellen Gelpi, Christoph Röcken, Stefan Oberndorfer, Hans Lassmann, Claudia F. Lucchinetti, Romana Höftberger
Anti-glial fibrillary acidic protein (GFAP) meningoencephalomyelitis (autoimmune GFAP astrocytopathy) is a new autoimmune central nervous system (CNS) disease diagnosable by the presence of anti-GFAP autoantibodies in the cerebrospinal fluid and presents as meningoencephalomyelitis in the majority of patients. Only few neuropathological reports are available and little is known about the pathogenic
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Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-02 Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn Scherpelz, Marie Y. Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A. Hübner, Markus J. Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger
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Similar brain proteomic signatures in Alzheimer’s disease and epilepsy Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-30 Dominique Leitner, Geoffrey Pires, Tomas Kavanagh, Evgeny Kanshin, Manor Askenazi, Beatrix Ueberheide, Orrin Devinsky, Thomas Wisniewski, Eleanor Drummond
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Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6 Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-29 Tsz Chui Sophia Leung, Eviatar Fields, Namrata Rana, Ru Yi Louisa Shen, Alexandra E. Bernstein, Anna A. Cook, Daniel E. Phillips, Alanna J. Watt
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Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-27 Cinthya Aguero, Maeva Dhaynaut, Ana C. Amaral, S.-H. Moon, Ramesh Neelamegam, Margaret Scapellato, Carlos Carazo-Casas, Sunny Kumar, Georges El Fakhri, Keith Johnson, Matthew P. Frosch, Marc D. Normandin, Teresa Gómez-Isla
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Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-24
Abstract The diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated approach is still novel and some molecular ependymoma subtypes are quite rare, few studies have correlated integrated pathology and clinical outcome, often focusing on small series of single
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Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-24 Swenja Gödicke, Catena Kresbach, Max Ehlert, Denise Obrecht, Lea Altendorf, Karoline Hack, Katja von Hoff, Helena Carén, Viktoria Melcher, Kornelius Kerl, Bernhard Englinger, Mariella Filbin, Kristian W. Pajtler, Johannes Gojo, Torsten Pietsch, Stefan Rutkowski, Ulrich Schüller
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Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-24 Sina Neyazi, Erika Yamazawa, Karoline Hack, Shota Tanaka, Genta Nagae, Catena Kresbach, Takayoshi Umeda, Alicia Eckhardt, Kenji Tatsuno, Lara Pohl, Taijun Hana, Michael Bockmayr, Phyo Kim, Mario M. Dorostkar, Toshihiro Takami, Denise Obrecht, Keisuke Takai, Abigail K. Suwala, Takashi Komori, Shweta Godbole, Annika K. Wefers, Ryohei Otani, Julia E. Neumann, Fumi Higuchi, Leonille Schweizer, Yuta Nakanishi
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Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-20 Richard Drexler, Robin Khatri, Ulrich Schüller, Alicia Eckhardt, Alice Ryba, Thomas Sauvigny, Lasse Dührsen, Malte Mohme, Tammo Ricklefs, Helena Bode, Fabian Hausmann, Tobias B. Huber, Stefan Bonn, Hannah Voß, Julia E. Neumann, Dana Silverbush, Volker Hovestadt, Mario L. Suvà, Katrin Lamszus, Jens Gempt, Manfred Westphal, Dieter H. Heiland, Sonja Hänzelmann, Franz L. Ricklefs
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A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-20 Elnaz Fazeli, Daniel D. Child, Stephanie A. Bucks, Miki Stovarsky, Gabrielle Edwards, Shannon E. Rose, Chang-En Yu, Caitlin Latimer, Yu Kitago, Thomas Bird, Suman Jayadev, Olav M. Andersen, Jessica E. Young
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Performance of a seed amplification assay for misfolded alpha-synuclein in cerebrospinal fluid and brain tissue in relation to Lewy body disease stage and pathology burden Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-19
Abstract The development of in vitro seed amplification assays (SAA) detecting misfolded alpha-synuclein (αSyn) in cerebrospinal fluid (CSF) and other tissues has provided a pathology-specific biomarker for Lewy body disease (LBD). However, αSyn SAA diagnostic performance in early pathological stages or low Lewy body (LB) pathology load has only been assessed in small cohorts. Moreover, the relationship
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Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2 Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-19 Felix Kleefeld, Rita Horvath, Iago Pinal-Fernandez, Andrew L. Mammen, Maria Casal-Dominguez, Denisa Hathazi, Sarah Melchert, Katrin Hahn, Albert Sickmann, Claudia Muselmann-Genschow, Andreas Hentschel, Corinna Preuße, Andreas Roos, Benedikt Schoser, Werner Stenzel
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Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-17 Weiguanliu Zhang, Christina D. Orrú, Aaron Foutz, Mingxuan Ding, Jue Yuan, Syed Zahid Ali Shah, Jing Zhang, Keisi Kotobelli, Maria Gerasimenko, Tricia Gilliland, Wei Chen, Michelle Tang, Mark Cohen, Jiri Safar, Bin Xu, Dao-Jun Hong, Li Cui, Andrew G. Hughson, Lawrence B. Schonberger, Curtis Tatsuoka, Shu G. Chen, Justin J. Greenlee, Zerui Wang, Brian S. Appleby, Byron Caughey, Wen-Quan Zou
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Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-16
Abstract Pituitary neuroendocrine tumors (PitNETs) are classified according to cell lineage, which requires immunohistochemistry for adenohypophyseal hormones and the transcription factors (TFs) PIT1, SF1, and TPIT. According to the current WHO 2022 classification, PitNETs with co-expression of multiple TFs are termed “plurihormonal”. Previously, PIT1/SF1 co-expression was prevailingly reported in
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Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-12 Christopher Nelke, Simone Schmid, Felix Kleefeld, Christina B. Schroeter, Hans-Hilmar Goebel, Sarah Hoffmann, Corinna Preuße, Heike Kölbel, Sven G. Meuth, Tobias Ruck, Werner Stenzel
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Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-09 Meng-Han Tsai, Hao-Chen Ke, Wan-Cian Lin, Fang-Shin Nian, Chia-Wei Huang, Haw-Yuan Cheng, Chi-Sin Hsu, Tiziana Granata, Chien-Hui Chang, Barbara Castellotti, Shin-Yi Lin, Fabio M. Doniselli, Cheng-Ju Lu, Silvana Franceschetti, Francesca Ragona, Pei-Shan Hou, Laura Canafoglia, Chien-Yi Tung, Mei-Hsuan Lee, Won-Jing Wang, Jin-Wu Tsai
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Distinct tau and alpha-synuclein molecular signatures in Alzheimer’s disease with and without Lewy bodies and Parkinson’s disease with dementia Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-10 Bram L. van der Gaag, Natasja A. C. Deshayes, John J. P. Breve, John G. J. M. Bol, Allert J. Jonker, Jeroen J. M. Hoozemans, Jean-Philippe Courade, Wilma D. J. van de Berg
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CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-06 Juan Lantero-Rodriguez, Laia Montoliu-Gaya, Andrea L. Benedet, Agathe Vrillon, Julien Dumurgier, Emmanuel Cognat, Wagner S. Brum, Nesrine Rahmouni, Jenna Stevenson, Stijn Servaes, Joseph Therriault, Bruno Becker, Gunnar Brinkmalm, Anniina Snellman, Hanna Huber, Hlin Kvartsberg, Nicholas J. Ashton, Henrik Zetterberg, Claire Paquet, Pedro Rosa-Neto, Kaj Blennow
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New evidence suggests SARS-CoV-2 neuroinvasion along the nervus terminalis rather than the olfactory pathway Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-06 Christopher S. von Bartheld, Rafal Butowt
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Improved prognostic stratification of patients with isocitrate dehydrogenase-mutant astrocytoma Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-06 Michael Weller, Jörg Felsberg, Bettina Hentschel, Dorothee Gramatzki, Nadezhda Kubon, Marietta Wolter, Matthias Reusche, Patrick Roth, Dietmar Krex, Ulrich Herrlinger, Manfred Westphal, Joerg C. Tonn, Luca Regli, Claude-Alain Maurage, Andreas von Deimling, Torsten Pietsch, Emilie Le Rhun, Guido Reifenberger
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Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-04 Ana Rita Agra Almeida Quadros, Zhaozhi Li, Xue Wang, I. Sandra Ndayambaje, Sandeep Aryal, Nandini Ramesh, Matthew Nolan, Rojashree Jayakumar, Yi Han, Hannah Stillman, Corey Aguilar, Hayden J. Wheeler, Theresa Connors, Jone Lopez-Erauskin, Michael W. Baughn, Ze’ev Melamed, Melinda S. Beccari, Laura Olmedo Martínez, Michael Canori, Chao-Zong Lee, Laura Moran, Isabelle Draper, Alan S. Kopin, Derek H.
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p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003 Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-04 Lewis W. Taylor, Elizabeth M. Simzer, Claire Pimblett, Oscar T. T. Lacey-Solymar, Robert I. McGeachan, Soraya Meftah, Jamie L. Rose, Maxwell P. Spires-Jones, Kristján Holt, James H. Catterson, Henner Koch, Imran Liaquat, Jonathan H. Clarke, John Skidmore, Colin Smith, Sam A. Booker, Paul M. Brennan, Tara L. Spires-Jones, Claire S. Durrant