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Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes Acta Neuropathol. (IF 12.7) Pub Date : 2024-05-15 Nicolas Leventoux, Satoru Morimoto, Mitsuru Ishikawa, Shiho Nakamura, Fumiko Ozawa, Reona Kobayashi, Hirotaka Watanabe, Sopak Supakul, Satoshi Okamoto, Zhi Zhou, Hiroya Kobayashi, Chris Kato, Yoshifumi Hirokawa, Ikuko Aiba, Shinichi Takahashi, Shinsuke Shibata, Masaki Takao, Mari Yoshida, Fumito Endo, Koji Yamanaka, Yasumasa Kokubo, Hideyuki Okano
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Deciphering nociplastic pain: clinical features, risk factors and potential mechanisms Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-16 Chelsea M. Kaplan, Eoin Kelleher, Anushka Irani, Andrew Schrepf, Daniel J. Clauw, Steven E. Harte
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Alzheimer blood biomarkers: practical guidelines for study design, sample collection, processing, biobanking, measurement and result reporting Mol. Neurodegener. (IF 15.1) Pub Date : 2024-05-15 Xuemei Zeng, Yijun Chen, Anuradha Sehrawat, Jihui Lee, Tara K. Lafferty, Julia Kofler, Sarah B. Berman, Robert A. Sweet, Dana L. Tudorascu, William E. Klunk, Milos D. Ikonomovic, Anna Pfister, Henrik Zetterberg, Beth E. Snitz, Anne D. Cohen, Victor L. Villemagne, Tharick A. Pascoal, M. llyas Kamboh, Oscar I. Lopez, Kaj Blennow, Thomas K. Karikari
Alzheimer’s disease (AD), the most common form of dementia, remains challenging to understand and treat despite decades of research and clinical investigation. This might be partly due to a lack of widely available and cost-effective modalities for diagnosis and prognosis. Recently, the blood-based AD biomarker field has seen significant progress driven by technological advances, mainly improved analytical
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The vascular contribution of apolipoprotein E to Alzheimer's disease Brain (IF 14.5) Pub Date : 2024-05-15 Feng Chen, Jing Zhao, Fanxia Meng, Fangping He, Jie Ni, Yuan Fu
Alzheimer’s disease, the most prevalent form of dementia, imposes a substantial societal burden. The persistent inadequacy of disease-modifying drugs targeting amyloid plaques and neurofibrillary tangles suggests the contribution of alternative pathogenic mechanisms. A frequently overlooked aspect is cerebrovascular dysfunction, which may manifest early in the progression of Alzheimer’s disease pathology
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Epidemiology and prevalence of dementia and Alzheimer's disease in American Indians: Data from the Strong Heart Study Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-15 Astrid M. Suchy‐Dicey, Kimiko Domoto‐Reilly, Lonnie Nelson, Suman Jayadev, Dedra S. Buchwald, Thomas J. Grabowski, Kristoffer Rhoads
INTRODUCTIONAccurate epidemiologic estimates for dementia are lacking for American Indians, despite substantive social and health disparities.METHODSThe Strong Heart Study, a population‐based cohort of 11 American Indian tribes, conducted detailed cognitive testing and examinations over two visits approximately 7 years apart. An expert panel reviewed case materials for consensus adjudication of cognitive
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Associations among plasma, MRI, and amyloid PET biomarkers of Alzheimer's disease and related dementias and the impact of health‐related comorbidities in a community‐dwelling cohort Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-15 Marc D. Rudolph, Courtney L. Sutphen, Thomas C. Register, Christopher T. Whitlow, Kiran K. Solingapuram Sai, Timothy M. Hughes, James R. Bateman, Jeffrey L. Dage, Kristen A. Russ, Michelle M. Mielke, Suzanne Craft, Samuel N. Lockhart
INTRODUCTIONWe evaluated associations between plasma and neuroimaging‐derived biomarkers of Alzheimer's disease and related dementias and the impact of health‐related comorbidities.METHODSWe examined plasma biomarkers (neurofilament light chain, glial fibrillary acidic protein, amyloid beta [Aβ] 42/40, phosphorylated tau 181) and neuroimaging measures of amyloid deposition (Aβ‐positron emission tomography
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Medial temporal lobe gray matter microstructure in preclinical Alzheimer's disease Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-15 Christopher Brown, Sandhitsu Das, Long Xie, Ilya Nasrallah, John Detre, Alice Chen‐Plotkin, Leslie Shaw, Corey McMillan, Paul Yushkevich, David Wolk
INTRODUCTIONTypical MRI measures of neurodegeneration have limited sensitivity in early disease stages. Diffusion MRI (dMRI) microstructural measures may allow for detection in preclinical stages.METHODSParticipants had dMRI and either beta‐amyloid PET or plasma biomarkers of Alzheimer's pathology within 18 months of MRI. Microstructure was measured in portions of the medial temporal lobe (MTL) with
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Choriocapillaris reduction accurately discriminates against early‐onset Alzheimer's disease Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-15 William Robert Kwapong, Fei Tang, Peng Liu, Ziyi Zhang, Le Cao, Zijuan Feng, Shiyun Yang, Yang Shu, Heng Xu, Ying Lu, Xinjun Zhao, Baochen Chong, Bo Wu, Ming Liu, Peng Lei, Shuting Zhang
INTRODUCTIONThis study addresses the urgent need for non‐invasive early‐onset Alzheimer's disease (EOAD) prediction. Using optical coherence tomography angiography (OCTA), we present a choriocapillaris model sensitive to EOAD, correlating with serum biomarkers.METHODSEighty‐four EOAD patients and 73 controls were assigned to swept‐source OCTA (SS‐OCTA) or the spectral domain OCTA (SD‐OCTA) cohorts
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CAR T cells offer hope in glioblastoma Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-14 Ian Fyfe
Novel CAR T cells delivered directly to the CNS could have therapeutic effects in recurrent glioblastoma, according to two early-stage trials.
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Genetic protection against Alzheimer disease Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-14 Lisa Kiani
Cognitively healthy centenarians are protected against Alzheimer disease (AD) by their advantageous genetic make-up, according to new research. Analysis of 86 single nucleotide polymorphisms associated with AD risk revealed a lower frequency of almost all risk-increasing alleles and a higher frequency of protective alleles among cognitively healthy centenarians than among people with AD. The most strongly
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Blood test for early Parkinson disease diagnosis Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-14 Lisa Kiani
A blood-based α-synuclein (α-syn) seed amplification assay (SAA) can detect Parkinson disease (PD) up to 10 years before clinical diagnosis, new research indicates. Retrospective analysis of blood samples from 12 individuals with PD showed a positive α-syn SAA in all individuals 1–10 years before their diagnosis. The SAA was negative in all healthy controls (n = 13), whereas 30% of people with isolated
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Infant microbiome predicts neurodevelopmental disorders Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-14 Lisa Kiani
A new study has identified significant differences in gut microbial communities between infants that are later diagnosed with a neurodevelopmental disorder and those that are not. The >20-year study followed a cohort of 16,440 Swedish children from birth, 1,197 of whom developed a neurodevelopmental disorder, including autism spectrum disorder, attention-deficit hyperactivity disorder or a speech disorder
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Nanoprobe for blood–brain barrier changes Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-14 Lisa Kiani
New research shows that labelling of laminin with a nanoparticle probe enables MRI assessment of blood–brain barrier (BBB) changes caused by neuroinflammation. The iron oxide-based nanoparticles were vectorized with peptide-88, which binds laminin specifically under inflammatory conditions. A comparison of MRI images from a mouse model of autoimmune encephalomyelitis (EAE) and control mice showed increased
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KATP channel mutation disrupts hippocampal network activity and nocturnal gamma shifts Brain (IF 14.5) Pub Date : 2024-05-14 Marie-Elisabeth Burkart, Josephine Kurzke, Robert Jacobi, Jorge Vera, Frances M Ashcroft, Jens Eilers, Kristina Lippmann
ATP-sensitive potassium (KATP) channels couple cell metabolism to cellular electrical activity. Humans affected by severe activating mutations in KATP channels suffer from developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). While the aetiology of diabetes in DEND syndrome is well understood, the pathophysiology of the neurological symptoms remains unclear. We hypothesised that impaired
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The implications of amyloid-β pathology: only time will tell Brain (IF 14.5) Pub Date : 2024-05-14 Emma M Coomans, Rik Ossenkoppele
This scientific commentary refers to ‘Characterizing brain tau and cognitive decline along the amyloid timeline in Alzheimer’s disease’ by Cody et al. (https://doi.org/10.1093/brain/awae116).
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Single-value brain activity scores reflect both severity and risk across the Alzheimer’s continuum Brain (IF 14.5) Pub Date : 2024-05-14 Joram Soch, Anni Richter, Jasmin M Kizilirmak, Hartmut Schütze, Gabriel Ziegler, Slawek Altenstein, Frederic Brosseron, Peter Dechent, Klaus Fliessbach, Silka Dawn Freiesleben, Wenzel Glanz, Daria Gref, Michael T Heneka, Stefan Hetzer, Enise I Incesoy, Ingo Kilimann, Okka Kimmich, Luca Kleineidam, Elizabeth Kuhn, Christoph Laske, Andrea Lohse, Falk Lüsebrink, Matthias H Munk, Oliver Peters, Lukas Preis
Single-value scores reflecting the deviation from (FADE score) or similarity with (SAME score) prototypical novelty-related and memory-related functional magnetic resonance imaging (fMRI) activation patterns in young adults have been proposed as imaging biomarkers of healthy neurocognitive aging. Here, we tested the utility of these scores as potential diagnostic and prognostic markers in Alzheimer’s
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Blood–CSF barrier integrity in amyotrophic lateral sclerosis Brain (IF 14.5) Pub Date : 2024-05-14 Veronika Klose, Sarah Jesse, Jan Lewerenz, Jan Kassubek, Johannes Dorst, Angela Rosenbohm, Gabriele Nagel, Deborah Wernecke, Francesco Roselli, Hayrettin Tumani, Albert C Ludolph
The integrity of the blood-CSF barrier plays a major role in inflammation, but also in shielding the central nervous system from external and systemic – potentially toxic – factors. Here we report results of measurements of the albumin quotient – which is thought to mirror the integrity of the blood/CSF barrier - in 1059 amyotrophic lateral sclerosis patients. The results were compared with groups
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High frequency oscillations in human memory and cognition: a neurophysiological substrate of engrams? Brain (IF 14.5) Pub Date : 2024-05-14 Michal T Kucewicz, Jan Cimbalnik, Jesus S S Garcia, Milan Brazdil, Gregory A Worrell
Despite advances in understanding the cellular and molecular processes underlying memory and cognition, and recent successful modulation of cognitive performance in brain disorders, the neurophysiological mechanisms remain underexplored. High frequency oscillations beyond the classic electroencephalogram spectrum have emerged as a potential neural correlate of fundamental cognitive processes. High
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PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells Brain (IF 14.5) Pub Date : 2024-05-14 Robert Prior, Alessio Silva, Tim Vangansewinkel, Jakub Idkowiak, Arun Kumar Tharkeshwar, Tom P Hellings, Iliana Michailidou, Jeroen Vreijling, Maarten Loos, Bastijn Koopmans, Nina Vlek, Cedrick Agaser, Thomas B Kuipers, Christine Michiels, Elisabeth Rossaert, Stijn Verschoren, Wendy Vermeire, Vincent de Laat, Jonas Dehairs, Kristel Eggermont, Diede van den Biggelaar, Adekunle T Bademosi, Frederic A
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy caused by a 1.5 megabase tandem duplication of chromosome 17 harboring the PMP22 gene. This dose-dependent overexpression of PMP22 results in disrupted Schwann cell myelination of peripheral nerves. To get better insights into the underlying pathogenic mechanisms in CMT1A, we investigated the role of PMP22
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A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species Brain (IF 14.5) Pub Date : 2024-05-14 Tal Benjamin-Zukerman, Gilat Shimon, Marie E Gaine, Anwar Dakwar, Netta Peled, Mohammad Aboraya, Ashar Masri-Ismail, Rania Safadi-Safa, Meir Solomon, Varda Lev-Ram, Robert A Rissman, Johanna E Mayrhofer, Andrea Raffeiner, Merel O Mol, Benney M R Argue, Shaylah McCool, Binh Doan, John van Swieten, Eduard Stefan, Ted Abel, Ronit Ilouz
Protein Kinase A (PKA) neuronal function is controlled by the interaction of a regulatory (R) subunit dimer to two catalytic (C) subunits. Recently, the L50R variant in the gene encoding the RIβ subunit was identified in individuals with a novel neurodegenerative disease. However, the mechanisms driving the disease phenotype remained unknown. In this study, we generated a mouse model carrying the RIβ-L50R
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SNCA‐Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy Mov. Disord. (IF 8.6) Pub Date : 2024-05-14 Jianyuan Zhang, Yiming Liu, Cuiping Zhao
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Antithrombotic Treatment for Cervical Artery Dissection: A Systematic Review and Individual Patient Data Meta-Analysis. JAMA Neurol. (IF 29.0) Pub Date : 2024-05-13 Josefin E Kaufmann, Eric L Harshfield, Henrik Gensicke, Susanne Wegener, Patrik Michel, Georg Kägi, Krassen Nedeltchev, Lars Kellert, Sverre Rosenbaum, Christian H Nolte, Hanne Christensen, Marcel Arnold, Philippe Lyrer, Christopher Levi, Philip M Bath, Stefan T Engelter, Christopher Traenka, Hugh S Markus
Cervical artery dissection is the most common cause of stroke in younger adults. To date, there is no conclusive evidence on which antithrombotic therapy should be used to treat patients.
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Zoey's First Haircut. JAMA Neurol. (IF 29.0) Pub Date : 2024-05-13 Eunice Stallman
This essay describes the author’s experience with her daughter’s brain cancer and her reflections on her responsibilities as a physician.
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Expanding Clinical Spectrum of Anti-GQ1b Antibody Syndrome JAMA Neurol. (IF 29.0) Pub Date : 2024-05-13 Sun-Uk Lee, Hyo-Jung Kim, Jeong-Yoon Choi, Kwang-Dong Choi, Ji-Soo Kim
ImportanceThe discovery of the anti-GQ1b antibody has expanded the nosology of classic Miller Fisher syndrome to include Bickerstaff brainstem encephalitis, Guillain-Barré syndrome with ophthalmoplegia, and acute ophthalmoplegia without ataxia, which have been brought under the umbrella term anti-GQ1b antibody syndrome. It seems timely to define the phenotypes of anti-GQ1b antibody syndrome for the
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Staged Bilateral MRI-Guided Focused Ultrasound Subthalamotomy for Parkinson Disease JAMA Neurol. (IF 29.0) Pub Date : 2024-05-13 Raúl Martínez-Fernández, Elena Natera-Villalba, Rafael Rodríguez-Rojas, Marta del Álamo, Jose A. Pineda-Pardo, Ignacio Obeso, Pasqualina Guida, Tamara Jiménez-Castellanos, Diana Pérez-Bueno, Alicia Duque, Jorge U. Mañez-Miró, Carmen Gasca-Salas, Michele Matarazzo, Fernando Alonso-Frech, Jose A. Obeso
ImportanceUnilateral magnetic resonance imaging (MRI)–guided focused ultrasound subthalamotomy (FUS-STN) improves cardinal motor features among patients with asymmetrical Parkinson disease (PD). The feasibility of bilateral FUS-STN is as yet unexplored.ObjectiveTo assess the safety and effectiveness of staged bilateral FUS-STN to treat PD.Design, Setting, and ParticipantsThis prospective, open-label
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Mitigation of TDP-43 toxic phenotype by an RGNEF fragment in amyotrophic lateral sclerosis models Brain (IF 14.5) Pub Date : 2024-05-13 Cristian A Droppelmann, Danae Campos-Melo, Veronica Noches, Crystal McLellan, Robert Szabla, Taylor A Lyons, Hind Amzil, Benjamin Withers, Brianna Kaplanis, Kirti S Sonkar, Anne Simon, Emanuele Buratti, Murray Junop, Jamie M Kramer, Michael J Strong
Aggregation of the RNA-binding protein TAR DNA binding protein (TDP-43) is a hallmark of TDP-proteinopathies including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). As TDP-43 aggregation and dysregulation are causative of neuronal death, there is a special interest in targeting this protein as a therapeutic approach. Previously, we found that TDP-43 extensively co-aggregated
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders Brain (IF 14.5) Pub Date : 2024-05-13 James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A Huryn, Yuri V Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, Carl J Haugen, Lev Prasov, Ruifang Shi, Hélène Dollfus, Petros Aristodemou, Yannik Laich, Andrea H Németh, John Taylor, Susan Downes, Maciej R Krawczynski, Isabelle Meunier, Melissa Strassberg, Jessica Tenney, Josephine
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a systematic evidence-based review of a novel cohort
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Low-intensity ultrasound ameliorates brain organoid integration and rescues microcephaly deficits Brain (IF 14.5) Pub Date : 2024-05-13 Xiao-Hong Li, Di Guo, Li-Qun Chen, Zhe-Han Chang, Jian-Xin Shi, Nan Hu, Chong Chen, Xiao-Wang Zhang, Shuang-Qing Bao, Meng-Meng Chen, Dong Ming
Human brain organoids represent a remarkable platform for modeling neurological disorders and a promising brain repair approach. However, the effects of physical stimulation on their development and integration remain unclear. Here, we report that low-intensity ultrasound significantly increases neural progenitor cell proliferation and neuronal maturation in cortical organoids. Histological assays
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Anaplastic histology and distinct molecular features in a small series of spinal cord ependymomas Acta Neuropathol. (IF 12.7) Pub Date : 2024-05-12 Ulrich Schüller, Antonia Gocke, Shweta Godbole, Claire Delbridge, Christian Thomas, Julia E. Neumann
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Characterizing molecular and synaptic signatures in mouse models of late‐onset Alzheimer's disease independent of amyloid and tau pathology Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-12 Kevin P. Kotredes, Ravi S. Pandey, Scott Persohn, Kierra Elderidge, Charles P Burton, Ethan W. Miner, Kathryn A. Haynes, Diogo Francisco S. Santos, Sean‐Paul Williams, Nicholas Heaton, Cynthia M. Ingraham, Christopher Lloyd, Dylan Garceau, Rita O'Rourke, Sarah Herrick, Claudia Rangel‐Barajas, Surendra Maharjan, Nian Wang, Michael Sasner, Bruce T. Lamb, Paul R. Territo, Stacey J. Sukoff Rizzo, Gregory
INTRODUCTIONMODEL‐AD (Model Organism Development and Evaluation for Late‐Onset Alzheimer's Disease) is creating and distributing novel mouse models with humanized, clinically relevant genetic risk factors to capture the trajectory and progression of late‐onset Alzheimer's disease (LOAD) more accurately.METHODSWe created the LOAD2 model by combining apolipoprotein E4 (APOE4), Trem2*R47H, and humanized
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Targeting excitatory:inhibitory network imbalance in Alzheimer’s disease Brain (IF 14.5) Pub Date : 2024-05-10 David Blum, Sabine Levi
This scientific commentary refers to ‘Seizures exacerbate excitatory: inhibitory imbalance in Alzheimer’s disease and 5XFAD mice’ by Barbour et al. (https://doi.org/10.1093/brain/awae126).
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Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study Mov. Disord. (IF 8.6) Pub Date : 2024-05-10 Valentina De Giorgis, Kailash P. Bhatia, Odile Boespflug‐Tanguy, Domitille Gras, Adela Della Marina, Archana Desurkar, Manuel Toledo, Ian Miller, Michael Rotstein, Susanne A. Schneider, Daniel C. Tarquinio, Yvonne Weber, Melanie Brandabur, Jill Mayhew, Tony Koutsoukos, Darryl C. De Vivo
BackgroundParoxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets.ObjectivesThe objective was to evaluate the effectiveness and safety of triheptanoin in reducing the frequency of disabling movement disorders in patients with Glut1DS not receiving a ketogenic diet.MethodsUX007G‐CL301 was a randomized, double‐blind, placebo‐controlled
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The shoulders we keep standing on: remembering Otto Marburg, a big brain in neurology and multiple sclerosis, at 150 Acta Neuropathol. (IF 12.7) Pub Date : 2024-05-08 Klaus Schmierer, Hans Lassmann
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Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS Acta Neuropathol. (IF 12.7) Pub Date : 2024-05-09 Farina Windener, Laureen Grewing, Christian Thomas, Marie-France Dorion, Marie Otteken, Lara Kular, Maja Jagodic, Jack Antel, Stefanie Albrecht, Tanja Kuhlmann
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The clinical importance of suspected non-Alzheimer disease pathophysiology Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-09 Stephanie J. B. Vos, Aurore Delvenne, Clifford R. Jack, Dietmar R. Thal, Pieter Jelle Visser
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Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria Brain (IF 14.5) Pub Date : 2024-05-09 Raphaela Muri, Christian Rummel, Richard McKinley, Michael Rebsamen, Stephanie Maissen-Abgottspon, Roland Kreis, Piotr Radojewski, Katarzyna Pospieszny, Michel Hochuli, Roland Wiest, Roman Trepp, Regula Everts
Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated adults with phenylketonuria exhibit alterations in cortical grey matter compared to healthy peers. However, the effects of high phenylalanine exposure on brain structure in adulthood need to be further elucidated. In this double-blind
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Artificial intelligence in epilepsy — applications and pathways to the clinic Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-05-08 Alfredo Lucas, Andrew Revell, Kathryn A. Davis
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Sex differences in the extent of acute axonal pathologies after experimental concussion Acta Neuropathol. (IF 12.7) Pub Date : 2024-05-05 Hailong Song, Alexandra Tomasevich, Andrew Paolini, Kevin D. Browne, Kathryn L. Wofford, Brian Kelley, Eashwar Kantemneni, Justin Kennedy, Yue Qiu, Andrea L. C. Schneider, Jean-Pierre Dolle, D. Kacy Cullen, Douglas H. Smith
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Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex Acta Neuropathol. (IF 12.7) Pub Date : 2024-05-07 Mirte Scheper, Frederik N. F. Sørensen, Gabriele Ruffolo, Alessandro Gaeta, Lilian J. Lissner, Jasper J. Anink, Irina Korshunova, Floor E. Jansen, Kate Riney, Wim van Hecke, Angelika Mühlebner, Konstantin Khodosevich, Dirk Schubert, Eleonora Palma, James D. Mills, Eleonora Aronica
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Antidepressant exposure and long‐term dementia risk in a nationwide retrospective study on US veterans with midlife major depressive disorder Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-08 Jaime Ramos‐Cejudo, June K. Corrigan, Chunlei Zheng, Kaitlin N. Swinnerton, Sean R. Jacobson, Jennifer La, Rebecca A. Betensky, Ricardo S. Osorio, Sharon Madanes, Nunzio Pomara, Dan Iosifescu, Mary Brophy, Nhan V. Do, Nathanael R. Fillmore
INTRODUCTIONThe use of antidepressants in major depressive disorder (MDD) has been reported to influence long‐term risk of Alzheimer's disease (AD) and AD‐related dementias (AD/ADRD), but studies are conflicting.METHODSWe used inverse probability weighted (IPW) Cox models with time‐varying covariates in a retrospective cohort study among midlife veterans with MDD within the US Veterans Affairs healthcare
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Blood biomarkers of Alzheimer's disease in the community: Variation by chronic diseases and inflammatory status Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-08 Martina Valletta, Davide Liborio Vetrano, Debora Rizzuto, Bengt Winblad, Marco Canevelli, Sarah Andersson, Matilda Dale, Claudia Fredolini, Laura Fratiglioni, Giulia Grande
INTRODUCTIONWe explored the variations of blood biomarkers of Alzheimer's disease (AD) by chronic diseases and systemic inflammation.METHODSWe explored the association of AD blood biomarkers with chronic diseases and systemic inflammation (interleukin‐6 [IL‐6]), in 2366 dementia‐free participants of the Swedish National Study on Aging and Care‐in Kungsholmen, using quantile regression models.RESULTSA
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Altered fornix integrity is associated with sleep apnea‐related hypoxemia in mild cognitive impairment Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-08 Nicola Andrea Marchi, Véronique Daneault, Claire André, Marie‐Ève Martineau‐Dussault, Andrée‐Ann Baril, Cynthia Thompson, Jacques Yves Montplaisir, Danielle Gilbert, Dominique Lorrain, Arnaud Boré, Maxime Descoteaux, Julie Carrier, Nadia Gosselin
INTRODUCTIONThe limbic system is critical for memory function and degenerates early in the Alzheimer's disease continuum. Whether obstructive sleep apnea (OSA) is associated with alterations in the limbic white matter tracts remains understudied.METHODSPolysomnography, neurocognitive assessment, and brain magnetic resonance imaging (MRI) were performed in 126 individuals aged 55–86 years, including
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Long‐term exposure to air pollution and road traffic noise and incidence of dementia in the Danish Nurse Cohort Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-08 Stéphane Tuffier, Jiawei Zhang, Marie Bergmann, Rina So, George Maria Napolitano, Thomas Cole‐Hunter, Matija Maric, Sonja Antic, Jørgen Brandt, Matthias Ketzel, Steffen Loft, Youn‐Hee Lim, Zorana Jovanovic Andersen
INTRODUCTIONWe examined the association of long‐term exposure to air pollution and road traffic noise with dementia incidence in the Danish Nurse Cohort.METHODSFemale nurses were followed for dementia incidence (hospital contact or medication prescription) from 1993/1999 to 2020. Air pollution and road traffic noise levels were estimated at nurses’ residences, and their associations with dementia were
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Persistent GDNF Expression 45 Months after Putaminal Infusion of AAV2‐GDNF in a Patient with Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-05-08 John D. Heiss, Abhik Ray‐Chaudhury, David E. Kleiner, Debra J. Ehrlich, Gretchen Scott, Nancy A. Edwards, David S. Goldstein, Dima A. Hammoud, Piotr Hadaczek, Victor S. Van Laar, Shantelle A. Graff, Peter Herscovitch, Codrin Lungu, Mark Hallett, Russell R. Lonser, Kareem A. Zaghloul, Krystof S. Bankiewicz
ObjectiveGene therapy by convection‐enhanced delivery of type 2 adeno‐associated virus‐glial cell derived neurotrophic factor (AAV2‐GDNF) to the bilateral putamina seeks to increase GDNF gene expression and treat Parkinson's disease (PD).MethodsA 63‐year‐old man with advanced PD received AAV2‐GDNF in a clinical trial. He died from pneumonia after anterior cervical discectomy and fusion 45 months later
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Detection of α‐Synuclein in Oral Mucosa by Seed Amplification Assay in Synucleinopathies and Isolated REM Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-05-08 Yuanchu Zheng, Zhenwei Yu, Huihui Cai, Wenyi Kou, Chen Yang, Siming Li, Ning Zhang, Tao Feng
ObjectiveEvidence of abnormal α‐synuclein (α‐Syn) deposition in the brain is required for definitive diagnosis of synucleinopathies, which remains challenging. The seed amplification assay (SAA) is an innovative technique that can detect the seeding activity of misfolded α‐Syn, enabling the amplification and detection of minute quantities of pathogenic α‐Syn aggregates. This study aimed to evaluate
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Proteomic changes in the human cerebrovasculature in Alzheimer's disease and related tauopathies linked to peripheral biomarkers in plasma and cerebrospinal fluid Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-07 Aleksandra M. Wojtas, Eric B. Dammer, Qi Guo, Lingyan Ping, Ananth Shantaraman, Duc M. Duong, Luming Yin, Edward J. Fox, Fatemeh Seifar, Edward B. Lee, Erik C. B. Johnson, James J. Lah, Allan I. Levey, Yona Levites, Srikant Rangaraju, Todd E. Golde, Nicholas T. Seyfried
INTRODUCTIONCerebrovascular dysfunction is a pathological hallmark of Alzheimer's disease (AD). Nevertheless, detecting cerebrovascular changes within bulk tissues has limited our ability to characterize proteomic alterations from less abundant cell types.METHODSWe conducted quantitative proteomics on bulk brain tissues and isolated cerebrovasculature from the same individuals, encompassing control
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The impact of maternal smoking during pregnancy and the age of smoking initiation on incident dementia: A prospective cohort study Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-07 Jiyong Liu, Yi Xiao, Xiaoting Zheng, Yangfan Cheng, Sirui Zhang, Yuanzheng Ma, Qirui Jiang, Shichan Wang, Chunyu Li, Huifang Shang
INTRODUCTIONThe impact of early‐life tobacco exposure on dementia has remained unknown.METHODSUsing the UK Biobank, the associations of maternal smoking during pregnancy (MSDP) and age of smoking initiation (ASI) with the onset time of all‐cause dementia were estimated with accelerated failure time models. The effects of MSDP and ASI on brain structure and their genetic correlation to Alzheimer's disease
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Correlation analysis of peripheral platelet markers and disease phenotypes in Alzheimer's disease Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-07 Jiajia Fu, Xiaohui Lai, Chongwei Zhang, Qianqian Wei, Xueping Chen, Huifang Shang
INTRODUCTIONPlatelets serve as the primary peripheral reservoir of amyloid beta (Aβ). However, there is limited research on platelet markers in routine blood examinations, particularly with regard to the large platelet ratio (P‐LCR) in Alzheimer's disease (AD).METHODSThis study included 512 AD patients and 205 healthy controls (HCs). Platelet markers and apolipoprotein E (APOE) 4 status were assessed
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Assessment of neurovascular uncoupling: APOE status is a key driver of early metabolic and vascular dysfunction Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-07 Kristen D. Onos, Peter B. Lin, Ravi S. Pandey, Scott A. Persohn, Charles P. Burton, Ethan W. Miner, Kierra Eldridge, Jonathan Nyandu Kanyinda, Kate E. Foley, Gregory W. Carter, Gareth R. Howell, Paul R. Territo
BACKGROUNDAlzheimer's disease (AD) is the most common cause of dementia worldwide, with apolipoprotein Eε4 (APOEε4) being the strongest genetic risk factor. Current clinical diagnostic imaging focuses on amyloid and tau; however, new methods are needed for earlier detection.METHODSPET imaging was used to assess metabolism‐perfusion in both sexes of aging C57BL/6J, and hAPOE mice, and were verified
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Ghrelin for Neuroprotection in Post-Cardiac Arrest Coma: A Randomized Clinical Trial. JAMA Neurol. (IF 29.0) Pub Date : 2024-05-06 Sjoukje Nutma, Albertus Beishuizen, Walter M van den Bergh, Norbert A Foudraine, Joost le Feber, P Margreet G Filius, Alexander D Cornet, Job van der Palen, Michel J A M van Putten, Jeannette Hofmeijer
Out-of-hospital cardiac arrest survival rates have markedly risen in the last decades, but neurological outcome only improved marginally. Despite research on more than 20 neuroprotective strategies involving patients in comas after cardiac arrest, none have demonstrated unequivocal evidence of efficacy; however, treatment with acyl-ghrelin has shown improved functional and histological brain recovery
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Distinct Magnetic Resonance Imaging in a Child With a TACO1 Variant. JAMA Neurol. (IF 29.0) Pub Date : 2024-05-06 Maria Neimann Herskind, Jakob Bie Granild-Jensen, Mette Thorup Bendixen
This case report describes a unique magnetic resonance imaging result in a young boy with a TACO1 variant.
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Meso-cortical pathway damage in cognition, apathy and gait in cerebral small vessel disease Brain (IF 14.5) Pub Date : 2024-05-06 Hao Li, Mina A Jacob, Mengfei Cai, Roy P C Kessels, David G Norris, Marco Duering, Frank-Erik de Leeuw, Anil M Tuladhar
Cerebral small vessel disease (SVD) is known to contribute to cognitive impairment, apathy, and gait dysfunction. Although associations between cognitive impairment and either apathy or gait dysfunction have been shown in SVD, the inter-relations among these three clinical features and their potential common neural basis remains unexplored. The dopaminergic meso-cortical and meso-limbic pathways have
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A systematic review/meta‐analysis of prevalence and incidence rates illustrates systemic underrepresentation of individuals racialized as Asian and/or Asian‐American in ADRD research Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-06 Yiqi Zhu, Soobin Park, Ramana Kolady, Wenqing Zha, Ying Ma, Amanda Dias, Katherine McGuire, Angela Hardi, Sunny Lin, Zahinoor Ismail, Paris B. Adkins‐Jackson, Jean‐Francois Trani, Ganesh M. Babulal
We investigate Alzheimer's disease and related dementia (ADRD) prevalence, incidence rate, and risk factors in individuals racialized as Asian and/or Asian‐American and assess sample representation. Prevalence, incidence rate, risk factors, and heterogeneity of samples were assessed. Random‐effects meta‐analysis was conducted, generating pooled estimates. Of 920 records across 14 databases, 45 studies
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Generating real‐world evidence in Alzheimer's disease: Considerations for establishing a core dataset Alzheimers Dement. (IF 14.0) Pub Date : 2024-05-06 James E. Galvin, Jeffrey L. Cummings, Mihaela Levitchi Benea, Carl de Moor, Ricardo F. Allegri, Alireza Atri, Howard Chertkow, Claire Paquet, Verna R. Porter, Craig W. Ritchie, Sietske A. M. Sikkes, Michael R. Smith, Christina Marsica Grassi, Ivana Rubino
Ongoing assessment of patients with Alzheimer's disease (AD) in postapproval studies is important for mapping disease progression and evaluating real‐world treatment effectiveness and safety. However, interpreting outcomes in the real world is challenging owing to variation in data collected across centers and specialties and greater heterogeneity of patients compared with trial participants. Here
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Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia Brain (IF 14.5) Pub Date : 2024-05-04 Kyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, Molly E V Swanson, Ji Hun Yoo, Nasim F Mehrabi, Clinton Turner, Michael Dragunow, Richard L M Faull, Maurice A Curtis, Teepu Siddique, Christopher E Shaw, Kathy L Newell, Lyndal Henden, Kelly L Williams, Garth A Nicholson, Emma L Scotter
Pathogenic variants in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia characterised by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus, and spinal cord. However, ubiquilin 2 neuropathology is also seen in sporadic and familial amyotrophic lateral sclerosis and/or frontotemporal dementia cases not caused by UBQLN2 pathogenic variants
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Psilocybin reduces alcohol self-administration via selective left nucleus accumbens activation in rats Brain (IF 14.5) Pub Date : 2024-05-04 Jérôme Jeanblanc, Romain Bordy, Grégory Fouquet, Virginie Jeanblanc, Mickaël Naassila
The use of psilocybin to treat alcohol use disorder is very promising, but the mechanisms of action remain poorly understood. We combined behavioral, pharmacological and gene expression analyses to decipher the mechanisms of action of psilocybin, for the first time injected into the brain. Male Long Evans rats underwent chronic operant ethanol self-administration before testing the effect of intraperitoneal
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The brain's arbitration system and obsessional compulsive disorder Brain (IF 14.5) Pub Date : 2024-05-04 Trevor W Robbins
This scientific commentary relates to ‘Neurocomputational model of compulsivity: deviating from an uncertain goal-directed system’ by Kim et al. (https://doi.org/10.1093/brain/awae102).
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Distinct virtual histology of grey matter atrophy in four neuroinflammatory diseases Brain (IF 14.5) Pub Date : 2024-05-03 Jun Sun, Min Guo, Li Chai, Siyao Xu, Yuerong Lizhu, Yuna Li, Yunyun Duan, Xiaolu Xu, Shan Lv, Jinyuan Weng, Kuncheng Li, Fuqing Zhou, Haiqing Li, Yongmei Li, Xuemei Han, Fu-Dong Shi, Xinghu Zhang, Decai Tian, Zhizheng Zhuo, Yaou Liu
Gray matter (GM) atrophies were observed in multiple sclerosis, neuromyelitis optica spectrum disorders (both anti-aquaporin-4 antibody-positive [AQP4+], and -negative [AQP4-] subtypes NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Revealing the pathogenesis of brain atrophy in these disorders would help their differential diagnosis and guide therapeutic strategies
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Connectome reorganization associated with temporal lobe pathology and its surgical resection Brain (IF 14.5) Pub Date : 2024-05-03 Sara Larivière, Bo-yong Park, Jessica Royer, Jordan DeKraker, Alexander Ngo, Ella Sahlas, Judy Chen, Raúl Rodríguez-Cruces, Yifei Weng, Birgit Frauscher, Ruoting Liu, Zhengge Wang, Golia Shafiei, Bratislav Mišić, Andrea Bernasconi, Neda Bernasconi, Michael D Fox, Zhiqiang Zhang, Boris C Bernhardt
Network neuroscience offers a unique framework to understand the organizational principles of the human brain. Despite recent progress, our understanding of how the brain is modulated by focal lesions remains incomplete. Resection of the temporal lobe is the most effective treatment to control seizures in pharmaco-resistant temporal lobe epilepsy (TLE), making this syndrome a powerful model to study