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Adaptive immune changes associate with clinical progression of Alzheimer’s disease Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-24 Lynn van Olst, Alwin Kamermans, Sem Halters, Susanne M. A. van der Pol, Ernesto Rodriguez, Inge M. W. Verberk, Sanne G. S. Verberk, Danielle W. R. Wessels, Carla Rodriguez-Mogeda, Jan Verhoeff, Dorine Wouters, Jan Van den Bossche, Juan J. Garcia-Vallejo, Afina W. Lemstra, Maarten E. Witte, Wiesje M. van der Flier, Charlotte E. Teunissen, Helga E. de Vries
Alzheimer’s disease (AD) is the most frequent cause of dementia. Recent evidence suggests the involvement of peripheral immune cells in the disease, but the underlying mechanisms remain unclear. We comprehensively mapped peripheral immune changes in AD patients with mild cognitive impairment (MCI) or dementia compared to controls, using cytometry by time-of-flight (CyTOF). We found an adaptive immune
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Stage-dependent immunity orchestrates AQP4 antibody-guided NMOSD pathology: a role for netting neutrophils with resident memory T cells in situ Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-24 Akihiro Nakajima, Fumihiro Yanagimura, Etsuji Saji, Hiroshi Shimizu, Yasuko Toyoshima, Kaori Yanagawa, Musashi Arakawa, Mariko Hokari, Akiko Yokoseki, Takahiro Wakasugi, Kouichirou Okamoto, Hirohide Takebayashi, Chihiro Fujii, Kyoko Itoh, Yo-ichi Takei, Shinji Ohara, Mitsunori Yamada, Hitoshi Takahashi, Masatoyo Nishizawa, Hironaka Igarashi, Akiyoshi Kakita, Osamu Onodera, Izumi Kawachi
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BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair Acta Neuropathol. (IF 12.7) Pub Date : 2024-04-24 Anastasia Geladaris, Sebastian Torke, Darius Saberi, Yasemin B. Alankus, Frank Streit, Sabrina Zechel, Christine Stadelmann-Nessler, Andreas Fischer, Ursula Boschert, Darius Häusler, Martin S. Weber
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Regulation of human microglial gene expression and function via RNAase-H active antisense oligonucleotides in vivo in Alzheimer’s disease Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-24 Lina Vandermeulen, Ivana Geric, Laura Fumagalli, Mohamed Kreir, Ashley Lu, Annelies Nonneman, Jessie Premereur, Leen Wolfs, Rafaela Policarpo, Nicola Fattorelli, An De Bondt, Ilse Van Den Wyngaert, Bob Asselbergh, Mark Fiers, Bart De Strooper, Constantin d’Ydewalle, Renzo Mancuso
Microglia play important roles in maintaining brain homeostasis and neurodegeneration. The discovery of genetic variants in genes predominately or exclusively expressed in myeloid cells, such as Apolipoprotein E (APOE) and triggering receptor expressed on myeloid cells 2 (TREM2), as the strongest risk factors for Alzheimer’s disease (AD) highlights the importance of microglial biology in the brain
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Morbidity and mortality risks associated with valproate withdrawal in young men and women with epilepsy Brain (IF 14.5) Pub Date : 2024-04-24 Gashirai K Mbizvo, Tommaso Bucci, Gregory Y H Lip, Anthony G Marson
Valproate is the most effective treatment for idiopathic generalised epilepsy. Current guidance precludes its use in women of childbearing potential, unless other treatments are ineffective or not tolerated, because of high teratogenicity. This risk was recently extended to men. New guidance will limit use both in men and women aged <55 years, resulting in withdrawal of valproate from men already taking
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A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings Brain (IF 14.5) Pub Date : 2024-04-24 Hannah Baumeister, Jacob W Vogel, Philip S Insel, Luca Kleineidam, Steffen Wolfsgruber, Melina Stark, Helena M Gellersen, Renat Yakupov, Matthias C Schmid, Falk Lüsebrink, Frederic Brosseron, Gabriel Ziegler, Silka D Freiesleben, Lukas Preis, Luisa-Sophie Schneider, Eike J Spruth, Slawek Altenstein, Andrea Lohse, Klaus Fliessbach, Ina R Vogt, Claudia Bartels, Björn H Schott, Ayda Rostamzadeh, Wenzel
Memory clinic patients are a heterogeneous population representing various aetiologies of pathological aging. It is unknown if divergent spatiotemporal progression patterns of brain atrophy, as previously described in Alzheimer’s disease (AD) patients, are prevalent and clinically meaningful in this group of older adults. To uncover distinct atrophy subtypes, we applied the Subtype and Stage Inference
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Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders Brain (IF 14.5) Pub Date : 2024-04-23 Anne T Berg, Christopher H Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J E Kaiser, Katherine Paltell, Amanda N Nili, Jean-Marc DeKeyser, Tatiana V Abramova, Gerry Nesbitt, Shawn Egan, Carlos G Vanoye, Alfred L George
SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel NaV1.2 are rare with clinically heterogeneous expressions that include epilepsy, autism, and multiple severe to profound impairments and other conditions. To advance understanding of the clinical phenotypes and their relation to channel function, 81 patients (36, 44% female, median age 5.4 years) with 69 unique
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Leptin receptor reactivation restores brain function in early-life Lepr-deficient mice Brain (IF 14.5) Pub Date : 2024-04-23 Caroline Fernandes, Leticia Forny-Germano, Mayara M Andrade, Natalia M Lyra E Silva, Angela M Ramos-Lobo, Fernanda Meireles, Fernanda Tovar-Moll, Jean Christophe Houzel, Jose Donato, Fernanda G De Felice
Obesity is a chronic disease caused by excessive fat accumulation that impacts the body and brain health. Insufficient leptin or leptin receptor (LepR) are involved in the disease pathogenesis. Leptin is involved with several neurological processes, and it has critical developmental roles. We have previously demonstrated that leptin deficiency in early life leads to permanent developmental problems
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Thalamic epileptic spikes disrupt sleep spindles in patients with epileptic encephalopathy Brain (IF 14.5) Pub Date : 2024-04-23 Anirudh Wodeyar, Dhinakaran Chinappen, Dimitris Mylonas, Bryan Baxter, Dara S Manoach, Uri T Eden, Mark A Kramer, Catherine J Chu
In severe epileptic encephalopathies, epileptic activity contributes to progressive cognitive dysfunction. Epileptic encephalopathies share the trait of spike-wave activation during non-rapid eye movement sleep (EE-SWAS), a sleep stage dominated by sleep spindles, brain oscillations known to coordinate offline memory consolidation. Epileptic activity has been proposed to hijack the circuits driving
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Detecting Misfolded α‐Synuclein in Blood Years before the Diagnosis of Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-23 Annika Kluge, Eva Schaeffer, Josina Bunk, Michael Sommerauer, Sinah Röttgen, Claudia Schulte, Benjamin Roeben, Anna‐Katharina von Thaler, Julius Welzel, Ralph Lucius, Sebastian Heinzel, Wei Xiang, Gerhard W. Eschweiler, Walter Maetzler, Ulrike Suenkel, Daniela Berg
BackgroundIdentifying individuals with Parkinson's disease (PD) already in the prodromal phase of the disease has become a priority objective for opening a window for early disease‐modifying therapies.ObjectiveThe aim was to evaluate a blood‐based α‐synuclein seed amplification assay (α‐syn SAA) as a novel biomarker for diagnosing PD in the prodromal phase.MethodsIn the TREND study (University of Tuebingen)
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Adult‐Onset Dystonia and Hypertrophic Cardiomyopathy in Patient with a De Novo 16q12.2q21 Deletion Mov. Disord. (IF 8.6) Pub Date : 2024-04-23 Shaochen Qin, Yifeng Li, Yanjing Li, Yiwen Wu
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Effects of Tirofiban on Neurological Deterioration in Patients With Acute Ischemic Stroke: A Randomized Clinical Trial. JAMA Neurol. (IF 29.0) Pub Date : 2024-04-22 Wenbo Zhao, Sijie Li, Chuanhui Li, Chuanjie Wu, Junmei Wang, Lifei Xing, Yue Wan, Jinhui Qin, Yaoming Xu, Ruixian Wang, Changming Wen, Aihua Wang, Lan Liu, Jing Wang, Haiqing Song, Wuwei Feng, Qingfeng Ma, Xunming Ji
Evidence supports using antiplatelet therapy in patients with acute ischemic stroke. However, neurological deterioration remains common under the currently recommended antiplatelet regimen, leading to poor clinical outcomes.
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Cold-Induced Reflex Epilepsy. JAMA Neurol. (IF 29.0) Pub Date : 2024-04-22 Cathy Meng Fei Li, David Dongkyung Kim, Seyed M Mirsattari
This case report describes a woman cold-induced reflex seizures.
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A 24-Year-Old Man With Spastic Ataxia and Hypodontia JAMA Neurol. (IF 29.0) Pub Date : 2024-04-22 Lissa Marien, Panagiota Tsitsi, Gert Cypers
A 24-year-old man presented with progressive gait instability, marked spinal cord atrophy, and dental radiography showing the absence of several elements, microdontia, and taurodontia. What is your diagnosis?
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Multivariate mapping of low-resilient neurocognitive systems within and around low-grade gliomas Brain (IF 14.5) Pub Date : 2024-04-22 Sam Ng, Sylvie Moritz-Gasser, Anne-Laure Lemaitre, Hugues Duffau, Guillaume Herbet
Accumulating evidence suggests that the brain exhibits a remarkable capacity for functional compensation in response to neurological damage, a resilience potential that is deeply rooted in the malleable features of its underlying anatomo-functional architecture. This propensity is particularly exemplified by diffuse low-grade gliomas (DLGGs), a subtype of primary brain tumour. However, functional plasticity
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Pathologic and cognitive correlates of plasma biomarkers in neurodegenerative disease Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-22 Katheryn A. Q. Cousins, Jeffrey S. Phillips, Sandhitsu R. Das, Kyra O'Brien, Thomas F. Tropea, Alice Chen‐Plotkin, Leslie M. Shaw, Ilya M. Nasrallah, Dawn Mechanic‐Hamilton, Corey T. McMillan, David J. Irwin, Edward B. Lee, David A. Wolk
INTRODUCTIONWe investigate pathological correlates of plasma phosphorylated tau 181 (p‐tau181), glial fibrillary acidic protein (GFAP), and neurofilament light chain (NfL) across a clinically diverse spectrum of neurodegenerative disease, including normal cognition (NormCog) and impaired cognition (ImpCog).METHODSParticipants were NormCog (n = 132) and ImpCog (n = 461), with confirmed β‐amyloid (Aβ+/‐)
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Overrepresentation of APOE ε4 carriers in genome‐wide association studies of memory function and memory decline Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-22 Md Shafiqur Rahman
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Linking white matter hyperintensities to regional cortical thinning, amyloid deposition, and synaptic density loss in Alzheimer's disease Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-22 Junfang Zhang, Haijuan Chen, Jie Wang, Qi Huang, Xiaomeng Xu, Wenjing Wang, Wei Xu, Yihui Guan, Jun Liu, Joanna M Wardlaw, Yulei Deng, Fang Xie, Binyin Li
INTRODUCTIONWe investigated the association between white matter hyperintensities (WMH) and regional cortical thickness, amyloid and tau deposition, and synaptic density in the WMH‐connected cortex using multimodal images.METHODSWe included 107 participants (59 with Alzheimer's disease [AD]; 27 with mild cognitive impairment; 21 cognitively normal controls) with amyloid beta (Aβ) positivity on amyloid
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Cortical microinfarcts in adults with Down syndrome assessed with 3T‐MRI Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-22 Mateus Rozalem Aranha, Victor Montal, Hilde van den Brink, Jordi Pegueroles, Maria Carmona‐Iragui, Laura Videla, Lucia Maure Blesa, Bessy Benejam, Javier Arranz, Sílvia Valldeneu, Isabel Barroeta, Susana Fernández, Laia Ribas, Daniel Alcolea, Sofía González‐Ortiz, Núria Bargalló, Geert Jan Biessels, Rafael Blesa, Alberto Lleó, Artur Martins Coutinho, Cláudia Costa Leite, Alexandre Bejanin, Juan Fortea
BACKGROUNDCortical microinfarcts (CMI) were attributed to cerebrovascular disease and cerebral amyloid angiopathy (CAA). CAA is frequent in Down syndrome (DS) while hypertension is rare, yet no studies have assessed CMI in DS.METHODSWe included 195 adults with DS, 63 with symptomatic sporadic Alzheimer's disease (AD), and 106 controls with 3T magnetic resonance imaging. We assessed CMI prevalence in
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Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-22 Gazi Saadmaan, Maria Carolina Dalmasso, Alfredo Ramirez, Mikko Hiltunen, Nina Kemppainen, Jenni Lehtisalo, Francesca Mangialasche, Tiia Ngandu, Juha Rinne, Hilkka Soininen, Ruth Stephen, Miia Kivipelto, Alina Solomon
INTRODUCTIONWe assessed a genetic risk score for Alzheimer's disease (AD‐GRS) and apolipoprotein E (APOE4) in an exploratory neuroimaging substudy of the FINGER trial.METHODS1260 at‐risk older individuals without dementia were randomized to multidomain lifestyle intervention or health advice. N = 126 participants underwent magnetic resonance imaging (MRI), and N = 47 positron emission tomography (PET)
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Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-04-22 Ian H. Harding, Muhammad Ikhsan Nur Karim, Louisa P. Selvadurai, Louise A. Corben, Martin B. Delatycki, Serena Monti, Francesco Saccà, Nellie Georgiou‐Karistianis, Sirio Cocozza, Gary F. Egan
BackgroundThe dentate nuclei of the cerebellum are key sites of neuropathology in Friedreich ataxia (FRDA). Reduced dentate nucleus volume and increased mean magnetic susceptibility, a proxy of iron concentration, have been reported by magnetic resonance imaging studies in people with FRDA. Here, we investigate whether these changes are regionally heterogeneous.MethodsQuantitative susceptibility mapping
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Long‐Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non‐Degenerative Dystonia: A Cohort Study and a Meta‐Analysis Mov. Disord. (IF 8.6) Pub Date : 2024-04-22 Valentina Duga, Riccardo Giossi, Luigi Michele Romito, Mario Stanziano, Vincenzo Levi, Celeste Panteghini, Giovanna Zorzi, Nardo Nardocci
BackgroundThe evidence in the effectiveness of deep brain stimulation in children with medication‐refractory non‐degenerative monogenic dystonia is heterogeneous and long‐term results are sparse.ObjectivesThe objective is to describe long‐term outcomes in a single‐center cohort and compare our results with a meta‐analysis cohort form literature.MethodsWe performed a retrospective single‐center cohort
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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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Spatial enrichment and genomic analyses reveal the link of NOMO1 with amyotrophic lateral sclerosis Brain (IF 14.5) Pub Date : 2024-04-21 Jingyan Guo, Linya You, Yu Zhou, Jiali Hu, Jiahao Li, Wanli Yang, Xuelin Tang, Yimin Sun, Yuqi Gu, Yi Dong, Xi Chen, Christine Sato, Lorne Zinman, Ekaterina Rogaeva, Jian Wang, Yan Chen, Ming Zhang
Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease with uncertain genetic predisposition in most sporadic cases. Spatial architecture of cell types and gene expression is the basis of cell-cell interactions, biological function and disease pathology, but is not well investigated in human motor cortex, a key ALS relevant brain region. Recent studies indicated single nucleus transcriptomic
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Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline? Brain (IF 14.5) Pub Date : 2024-04-21 Maria H Eriksson, Freya Prentice, Rory J Piper, Konrad Wagstyl, Sophie Adler, Aswin Chari, John Booth, Friederike Moeller, Krishna Das, Christin Eltze, Gerald Cooray, Ana Perez Caballero, Lara Menzies, Amy McTague, Sara Shavel-Jessop, Martin M Tisdall, J Helen Cross, Patricia Martin Sanfilippo, Torsten Baldeweg
Neuropsychological impairments are common in children with drug-resistant epilepsy. It has been proposed that epilepsy surgery may alleviate these impairments by providing seizure freedom; however, findings from prior studies have been inconsistent. We mapped long-term neuropsychological trajectories in children before and after undergoing epilepsy surgery, to measure the impact of disease course and
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Critical Alzheimer's disease legislation advances in Congress Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-21
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Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant Mov. Disord. (IF 8.6) Pub Date : 2024-04-21 Elena Freri, Laura Canafoglia, Claudia Ciaccio, Davide Rossi Sebastiano, Davide Caputo, Roberta Solazzi, Francesca L. Sciacca, Maria Iascone, Ferruccio Panzica, Tiziana Granata, Silvana Franceschetti, Nardo Nardocci
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Bilateral Simultaneous Magnetic Resonance–Guided Focused Ultrasound Pallidotomy for Life‐Threatening Status Dystonicus Mov. Disord. (IF 8.6) Pub Date : 2024-04-20 Vincenzo Levi, Mario Stanziano, Carmela Pinto, Federica Zibordi, Davide Fedeli, Valentina Caldiera, Roberto Cilia, Nico Golfrè Andreasi, Arianna Braccia, Carla Carozzi, Elisa Ciceri, Marina Grisoli, Marco Gemma, Vittoria Nazzi, Francesco DiMeco, Roberto Eleopra, Giovanna Zorzi
BackgroundInvasive treatments like radiofrequency stereotactic lesioning or deep brain stimulation of the globus pallidus internus can resolve drug‐resistant status dystonicus (SD). However, these open procedures are not always feasible in patients with SD.ObjectiveThe aim was to report the safety and efficacy of simultaneous asleep bilateral transcranial magnetic resonance–guided focused ultrasound
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Melatonin: a ferroptosis inhibitor with potential therapeutic efficacy for the post-COVID-19 trajectory of accelerated brain aging and neurodegeneration Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-19 Asmaa Yehia, Osama A. Abulseoud
The unprecedented pandemic of COVID-19 swept millions of lives in a short period, yet its menace continues among its survivors in the form of post-COVID syndrome. An exponentially growing number of COVID-19 survivors suffer from cognitive impairment, with compelling evidence of a trajectory of accelerated aging and neurodegeneration. The novel and enigmatic nature of this yet-to-unfold pathology demands
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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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Increased frequency and mortality in persons with neurological disorders during COVID-19 Brain (IF 14.5) Pub Date : 2024-04-18 Candace M Marsters, Jeffrey A Bakal, Grace Y Lam, Finlay A McAlister, Christopher Power
Determining the frequency and outcomes of neurological disorders associated with COVID-19 is imperative for understanding risks as well as recognition of emerging neurological disorders. We investigated the susceptibility and impact of SARS-CoV-2 infection among persons with premorbid neurological disorder rs, as well as the post-infection incidence of neurological sequelae in a case-control population-based
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Different learning aberrations relate to delusion-like beliefs with different contents Brain (IF 14.5) Pub Date : 2024-04-18 Rosa Rossi-Goldthorpe, Steven M Silverstein, James M Gold, Jason Schiffman, James A Waltz, Trevor F Williams, Albert R Powers, Scott W Woods, Richard E Zinbarg, Vijay A Mittal, Lauren M Ellman, Gregory P Strauss, Elaine F Walker, Jason A Levin, Santiago Castiello, Joshua Kenney, Philip R Corlett
The prediction error account of delusions has had success. However, its explanation of delusions with different contents has been lacking. Persecutory delusions and paranoia are the common unfounded beliefs that others have harmful intentions towards us. Other delusions include believing that one’s thoughts or actions are under external control, or that events in the world have specific personal meaning
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Presynaptic density determined by SV2A PET is closely associated with postsynaptic metabotropic glutamate receptor 5 availability and independent of amyloid pathology in early cognitive impairment Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-18 Jie Wang, Qi Huang, Kun He, Junpeng Li, Tengfei Guo, Yang Yang, Zengping Lin, Songye Li, Greet Vanderlinden, Yiyun Huang, Koen Van Laere, Yihui Guan, Qihao Guo, Ruiqing Ni, Binying Li, Fang Xie
INTRODUCTIONMetabotropic glutamate receptor 5 (mGluR5) is involved in regulating integrative brain function and synaptic transmission. Aberrant mGluR5 signaling and relevant synaptic failure play a key role in the pathophysiological mechanism of Alzheimer's disease (AD).METHODSTen cognitively impaired (CI) individuals and 10 healthy controls (HCs) underwent [18F]SynVesT‐1 and [18F]PSS232 positron emission
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Cognitively healthy centenarians are genetically protected against Alzheimer's disease Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-18 Niccolo’ Tesi, Sven van der Lee, Marc Hulsman, Natasja M. van Schoor, Martijn Huisman, Yolande Pijnenburg, Wiesje M. van der Flier, Marcel Reinders, Henne Holstege
BACKGROUNDAlzheimer's disease (AD) prevalence increases with age, yet a small fraction of the population reaches ages > 100 years without cognitive decline. We studied the genetic factors associated with such resilience against AD.METHODSGenome‐wide association studies identified 86 single nucleotide polymorphisms (SNPs) associated with AD risk. We estimated SNP frequency in 2281 AD cases, 3165 age‐matched
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Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-16 Maurice Pasternak, Saira S. Mirza, Nicholas Luciw, Henri J. M. M. Mutsaerts, Jan Petr, David Thomas, David Cash, Martina Bocchetta, Maria Carmela Tartaglia, Sara B. Mitchell, Sandra E. Black, Morris Freedman, David Tang-Wai, Ekaterina Rogaeva, Lucy L. Russell, Arabella Bouzigues, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Robert Laforce, Pietro Tiraboschi, Barbara Borroni, Daniela Galimberti
Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers.
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Genetics of immune response to Epstein-Barr virus: prospects for multiple sclerosis pathogenesis Brain (IF 14.5) Pub Date : 2024-04-17 Jesse Huang, Katarina Tengvall, Izaura Bomfim Lima, Anna Karin Hedström, Julia Butt, Nicole Brenner, Alexandra Gyllenberg, Pernilla Stridh, Mohsen Khademi, Ingemar Ernberg, Faiez Al Nimer, Ali Manouchehrinia, Jan Hillert, Lars Alfredsson, Oluf Andersen, Peter Sundström, Tim Waterboer, Tomas Olsson, Ingrid Kockum
Epstein-Barr virus (EBV) infection has been advocated as a prerequisite for developing multiple sclerosis (MS) and possibly the propagation of the disease. However, the precise mechanisms for such influences are still unclear. A large-scale study investigating the host genetics of EBV serology and related clinical manifestations, such as infectious mononucleosis (IM), may help us better understand
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Racial and ethnic differences in plasma biomarker eligibility for a preclinical Alzheimer's disease trial Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-17 Doris Patricia Molina‐Henry, Rema Raman, Andy Liu, Oliver Langford, Keith Johnson, Leona K. Shum, Crystal M. Glover, Shobha Dhadda, Michael Irizarry, Gustavo Jimenez‐Maggiora, Joel B. Braunstein, Kevin Yarasheski, Venky Venkatesh, Tim West, Philip B. Verghese, Robert A. Rissman, Paul Aisen, Joshua D. Grill, Reisa A. Sperling
INTRODUCTIONIn trials of amyloid‐lowering drugs for Alzheimer's disease (AD), differential eligibility may contribute to under‐inclusion of racial and ethnic underrepresented groups. We examined plasma amyloid beta 42/40 and positron emission tomography (PET) amyloid eligibility for the ongoing AHEAD Study preclinical AD program (NCT04468659).METHODSUnivariate logistic regression models were used to
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White matter hyperintensities and the surrounding normal appearing white matter are associated with water channel disruption in the oldest old Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-17 Lisa C. Silbert, Natalie E. Roese, Victoria Krajbich, Justin Hurworth, David Lahna, Daniel L. Schwartz, Hiroko H. Dodge, Randall L. Woltjer
INTRODUCTIONAge‐related magnetic resonance imaging (MRI) T2 white matter hyperintensities (WMHs) are common and associated with neurological decline. We investigated the histopathological underpinnings of MRI WMH and surrounding normal appearing white matter (NAWM), with a focus on astroglial phenotypes.METHODSBrain samples from 51 oldest old Oregon Alzheimer's Disease Research Center participants
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MINocyclinE to Reduce inflammation and blood‐brain barrier leakage in small Vessel diseAse (MINERVA): A phase II, randomized, double‐blind, placebo‐controlled experimental medicine trial Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-17 Robin B. Brown, Daniel J. Tozer, Laurence Loubière, Eric L. Harshfield, Young T. Hong, Tim D. Fryer, Guy B. Williams, Martin J. Graves, Franklin I. Aigbirhio, John T. O'Brien, Hugh S. Markus
INTRODUCTIONCerebral small vessel disease (SVD) is a common cause of stroke/vascular dementia with few effective treatments. Neuroinflammation and increased blood‐brain barrier (BBB) permeability may influence pathogenesis. In rodent models, minocycline reduced inflammation/BBB permeability. We determined whether minocycline had a similar effect in patients with SVD.METHODSMINERVA was a single‐center
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Yeast Prion Protein Sup35 Initiates α‐Synuclein Pathology in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-17 Youcui Wang, Hui Li, Ning Song, Junxia Xie
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Neuronal activity drives glymphatic waste clearance Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-15 Lisa Kiani
Two new studies show that clearance of waste, including pathogenic amyloid, through the glymphatic system is driven by synchronized neuronal activity.
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Gut microbiota-host lipid crosstalk in Alzheimer’s disease: implications for disease progression and therapeutics Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-16 Ya-Xi Luo, Ling-Ling Yang, Xiu-Qing Yao
Trillions of intestinal bacteria in the human body undergo dynamic transformations in response to physiological and pathological changes. Alterations in their composition and metabolites collectively contribute to the progression of Alzheimer’s disease. The role of gut microbiota in Alzheimer’s disease is diverse and complex, evidence suggests lipid metabolism may be one of the potential pathways.
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Anxiety in Alzheimer's disease rats is independent of memory and impacted by genotype, age, sex, and exercise Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-16 Danielle C. Lopez, Zachary J. White, Stephanie E. Hall
INTRODUCTIONAlzheimer's disease (AD) is characterized by cognitive impairments; however, heightened anxiety often accompanies and, in some cases, exacerbates cognitive its. The present study aims to understand the influence of multiple variables on anxiety‐like behavior in TgF344‐AD rats and determine whether anxiety impacts memory performance.METHODSAn elevated plus maze was used to assess anxiety‐like
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Peripheral HMGB1 is linked to O3 pathology of disease‐associated astrocytes and amyloid Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-16 Chandrama Ahmed, Hendrik J. Greve, Carla Garza‐Lombo, Jamie A. Malley, James A. Johnson, Adrian L. Oblak, Michelle L. Block
INTRODUCTIONOzone (O3) is an air pollutant associated with Alzheimer's disease (AD) risk. The lung–brain axis is implicated in O3‐associated glial and amyloid pathobiology; however, the role of disease‐associated astrocytes (DAAs) in this process remains unknown.METHODSThe O3‐induced astrocyte phenotype was characterized in 5xFAD mice by spatial transcriptomics and proteomics. Hmgb1fl/fl LysM‐Cre+
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Mitovesicles secreted into the extracellular space of brains with mitochondrial dysfunction impair synaptic plasticity Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-14 Pasquale D’Acunzo, Elentina K. Argyrousi, Jonathan M. Ungania, Yohan Kim, Steven DeRosa, Monika Pawlik, Chris N. Goulbourne, Ottavio Arancio, Efrat Levy
Hypometabolism tied to mitochondrial dysfunction occurs in the aging brain and in neurodegenerative disorders, including in Alzheimer’s disease, in Down syndrome, and in mouse models of these conditions. We have previously shown that mitovesicles, small extracellular vesicles (EVs) of mitochondrial origin, are altered in content and abundance in multiple brain conditions characterized by mitochondrial
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Entering Medicine as a Physician and a Patient JAMA Neurol. (IF 29.0) Pub Date : 2024-04-15 Frederick Thomas Gibson
This essay describes the author’s experience with the line between life and death and what the fragility of life means for patients and their medical teams.
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A Rare Neurological Presentation of Kikuchi-Fujimoto Disease JAMA Neurol. (IF 29.0) Pub Date : 2024-04-15 Murva Asad, Arpan R. Mehta, Dermot Mallon
This case report describes a 17-year-old boy with reduced consciousness and T2-weighted hyperintensity, focal diffusion restriction, and microhemorrhages within the deep gray nuclei and surrounding white matter.
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Clinicopathologic Heterogeneity and Glial Activation Patterns in Alzheimer Disease JAMA Neurol. (IF 29.0) Pub Date : 2024-04-15 Naomi Kouri, Isabelle Frankenhauser, Zhongwei Peng, Sydney A. Labuzan, Baayla D. C. Boon, Christina M. Moloney, Cyril Pottier, Daniel P. Wickland, Kelsey Caetano-Anolles, Nick Corriveau-Lecavalier, Jessica F. Tranovich, Ashley C. Wood, Kelly M. Hinkle, Sarah J. Lincoln, A. J. Spychalla, Matthew L. Senjem, Scott A. Przybelski, Erica Engelberg-Cook, Christopher G. Schwarz, Rain S. Kwan, Elizabeth R.
ImportanceFactors associated with clinical heterogeneity in Alzheimer disease (AD) lay along a continuum hypothesized to associate with tangle distribution and are relevant for understanding glial activation considerations in therapeutic advancement.ObjectivesTo examine clinicopathologic and neuroimaging characteristics of disease heterogeneity in AD along a quantitative continuum using the corticolimbic
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Subtitled speech: the neural mechanisms of ticker-tape synaesthesia Brain (IF 14.5) Pub Date : 2024-04-15 Fabien Hauw, Benoît Béranger, Laurent Cohen
Reading acquisition modifies areas of the brain associated with vision, with language, and their connections. Those changes enable reciprocal translation between orthography, and word sounds and meaning. Individual variability in the pre-existing cerebral substrate contributes to the range of eventual reading abilities, extending to atypical developmental patterns, including dyslexia and reading-related
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Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus Mov. Disord. (IF 8.6) Pub Date : 2024-04-15 Lindsey M. Vogt, Kathryn Yang, Gabriel Tse, Vicente Quiroz, Zainab Zaman, Laura Wang, Rasha Srouji, Amy Tam, Elicia Estrella, Shannon Manzi, Alfonso Fasano, Weston T. Northam, Scellig Stone, Mahendranath Moharir, Hernan Gonorazky, Brian McAlvin, Monica Kleinman, Kerri L. LaRovere, Carolina Gorodetsky, Darius Ebrahimi‐Fakhari
Status dystonicus is the most severe form of dystonia with life‐threatening complications if not treated promptly. We present consensus recommendations for the initial management of acutely worsening dystonia (including pre–status dystonicus and status dystonicus), as well as refractory status dystonicus in children. This guideline provides a stepwise approach to assessment, triage, interdisciplinary
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Magnetic Resonance‐Guided Focused Ultrasound (MRgFUS)‐Thalamotomy for Essential Tremor: Lesion Location and Clinical Outcomes Mov. Disord. (IF 8.6) Pub Date : 2024-04-15 Alana Arcadi, Iciar Aviles‐Olmos, Lain Hermes Gonzalez‐Quarante, Arantza Gorospe, Adolfo Jiménez‐Huete, Marta Macías de la Corte, Olga Parras, Antonio Martin‐Bastida, Mario Riverol, Rafael Villino, Jorge Guridi, Maria C. Rodríguez‐Oroz
BackgroundFactors predicting clinical outcomes after MR‐guided focused ultrasound (MRgFUS)‐thalamotomy in patients with essential tremor (ET) are not well known.ObjectiveTo examine the clinical outcomes and their relationship with patients' baseline demographic and clinical features and lesion characteristics at 6‐month follow‐up in ET patients.MethodsA total of 127 patients were prospectively evaluated
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Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism Mov. Disord. (IF 8.6) Pub Date : 2024-04-15 Joshua Laß, Theresa Lüth, Kathleen Schlüter, Susen Schaake, Björn‐Hergen Laabs, Christoph Much, Roland Dominic Jamora, Raymond L. Rosales, Gerard Saranza, Cid Czarina E. Diesta, Christopher E. Pearson, Inke R. König, Norbert Brüggemann, Christine Klein, Ana Westenberger, Joanne Trinh
BackgroundX‐Linked dystonia‐parkinsonism (XDP) is an adult‐onset neurodegenerative disorder characterized by rapidly progressive dystonia and parkinsonism. Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) were recently found within the TAF1 SVA repeat tract and were shown to associate with repeat stability and age at onset in XDP, specifically the AGGG [5′‐SINE‐VN
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Neurofilaments as biomarkers in neurological disorders — towards clinical application Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-12 Michael Khalil, Charlotte E. Teunissen, Sylvain Lehmann, Markus Otto, Fredrik Piehl, Tjalf Ziemssen, Stefan Bittner, Maria Pia Sormani, Thomas Gattringer, Samir Abu-Rumeileh, Simon Thebault, Ahmed Abdelhak, Ari Green, Pascal Benkert, Ludwig Kappos, Manuel Comabella, Hayrettin Tumani, Mark S. Freedman, Axel Petzold, Kaj Blennow, Henrik Zetterberg, David Leppert, Jens Kuhle
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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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GPNMB Biomarker Levels in GBA1 Carriers with Lewy Body Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-04-13 Eliza M. Brody, Yunji Seo, EunRan Suh, Noor Amari, Whitney G. Hartstone, R. Tyler Skrinak, Hanwen Zhang, Maria E. Diaz‐Ortiz, Daniel Weintraub, Thomas F. Tropea, Vivianna M. Van Deerlin, Alice S. Chen‐Plotkin
BackgroundThe GPNMB single‐nucleotide polymorphism rs199347 and GBA1 variants both associate with Lewy body disorder (LBD) risk. GPNMB encodes glycoprotein nonmetastatic melanoma protein B (GPNMB), a biomarker for GBA1‐associated Gaucher's disease.ObjectiveThe aim of this study was to determine whether GPNMB levels (1) differ in LBD with and without GBA1 variants and (2) associate with rs199347 genotype
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Addressing disparities in neurology by identifying gaps in hospital care Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-12 Lisa Kiani
Nature Reviews Neurology is interviewing individuals who are driving efforts to address disparities in neurology through a broad spectrum of diversity, equity and inclusion initiatives. We spoke with neurosurgeon Sonia Mejía Pérez from Mexico about her work to address gaps in hospital care for individuals from minority groups, such as LGBT+ people.
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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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Adaptive coding of reward in schizophrenia, its change over time and relation to apathy Brain (IF 14.5) Pub Date : 2024-04-12 Mariia Kaliuzhna, Fabien Carruzzo, Noémie Kuenzi, Philippe N Tobler, Matthias Kirschner, Tal Geffen, Teresa Katthagen, Kerem Böge, Marco M Zierhut, Florian Schlagenhauf, Stefan Kaiser
Adaptive coding of reward is the process by which neurons adapt their response to the context of available compensations. Higher rewards lead to a stronger brain response, but the increase of the response depends on the range of available rewards. A steeper increase is observed in a narrow range, and a more gradual slope in a wider range. In schizophrenia, adaptive coding appears affected in different