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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
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Progressive reduction of nuclear receptor Nr4a1 mediates age‐dependent cognitive decline Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-12 Jiang Chen, Zhi Zhang, Ying Liu, Lili Huang, Yi Liu, Dan Yang, Xinyu Bao, Pinyi Liu, Yuhan Ge, Qingqing Li, Xin Shu, Lushan Xu, Yun Stone Shi, Xiaolei Zhu, Yun Xu
INTRODUCTIONCognitive decline progresses with age, and Nr4a1 has been shown to participate in memory functions. However, the relationship between age‐related Nr4a1 reduction and cognitive decline is undefined.METHODSNr4a1 expressions were evaluated by quantitative PCR and immunochemical approaches. The cognition of mice was examined by multiple behavioral tests. Patch‐clamp experiments were conducted
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Neuropathologic changes at age 90+ related to sleep duration 19 to 40 years earlier: The 90+ Study Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-11 Zarui A. Melikyan, Claudia H. Kawas, Annlia Paganini‐Hill, Luohua Jiang, Syed Bukhari, Thomas J. Montine, Bryce A. Mander, María M. Corrada
INTRODUCTIONWe investigated the association between sleep duration and neuropathologic changes 19 to 40 years later in oldest‐old (age 90+) participants of The 90+ Study.METHODSParticipants self‐reported sleep duration and underwent neuropathologic evaluation. We categorized sleep duration as < 7, 7 to 8 = reference, > 8 hours and dichotomized neuropathologic changes as present/absent. We estimated
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BTK inhibitor falters in multiple sclerosis trials Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-10 Heather Wood
Findings of phase III trials of the Bruton’s tyrosine kinase inhibitor evobrutinib in patients with relapsing multiple sclerosis were recently presented at the ACTRIMS Forum.
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EBV-specific T cells in multiple sclerosis Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-10 Heather Wood
New data recently reported at the ACTRIMS Forum add to growing evidence of an aetiological role for Epstein–Barr virus infection in multiple sclerosis.
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Racial discrimination during middle age predicts higher serum phosphorylated tau and neurofilament light chain levels a decade later: A study of aging black Americans Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-10 Ronald L. Simons, Mei Ling Ong, Man‐Kit Lei, Steven R. H. Beach, Yue Zhang, Robert Philibert, Michelle M. Mielke
INTRODUCTIONRecent evidence suggests that exposure to the stress of racism may increase the risk of dementia for Black Americans.METHODSThe present study used 17 years of data from a sample of 255 Black Americans to investigate the extent to which exposure to racial discrimination predicts subsequent changes in serum Alzheimer's Disease Research Center (ADRC) biomarkers: serum phosphorylated tau181(p‐tau181)
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Conjugal Synucleinopathies: A Clinicopathologic Study Mov. Disord. (IF 8.6) Pub Date : 2024-04-10 Charles H. Adler, Matthew Halverson, Nan Zhang, Holly A. Shill, Erika Driver‐Dunckley, Shyamal H. Mehta, Alireza Atri, John N. Caviness, Geidy E. Serrano, David R. Shprecher, Christine M. Belden, Marwan N. Sabbagh, Kathy Long, Thomas G. Beach
BackgroundWhile preclinical studies have shown that alpha‐synuclein can spread through cell‐to‐cell transmission whether it can be transmitted between humans is unknown.ObjectivesThe aim was to assess the presence of a synucleinopathy in autopsied conjugal couples.MethodsNeuropathological findings in conjugal couples were categorized as Parkinson's disease (PD), dementia with Lewy bodies (DLB), Alzheimer's
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The concept of resilience to Alzheimer’s Disease: current definitions and cellular and molecular mechanisms Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-08 Luuk E. de Vries, Inge Huitinga, Helmut W. Kessels, Dick F. Swaab, Joost Verhaagen
Some individuals are able to maintain their cognitive abilities despite the presence of significant Alzheimer’s Disease (AD) neuropathological changes. This discrepancy between cognition and pathology has been labeled as resilience and has evolved into a widely debated concept. External factors such as cognitive stimulation are associated with resilience to AD, but the exact cellular and molecular
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Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial Brain (IF 14.5) Pub Date : 2024-04-09 Suma Babu, Katharine A Nicholson, Jeffrey D Rothstein, Andrea Swenson, Paul J Sampognaro, Pravin Pant, Eric A Macklin, Susan Spruill, Sabrina Paganoni, Tania F Gendron, Mercedes Prudencio, Leonard Petrucelli, Darrell Nix, Sean Landrette, Esther Nkrumah, Keith Fandrick, Joan Edwards, Peter R Young
Apilimod dimesylate is a first-in-class phosphoinositide kinase, FYVE-type zinc finger containing (PIKfyve) inhibitor with favourable clinical safety profile and has demonstrated activity in preclinical C9orf72 and TDP-43 amyotrophic lateral sclerosis models. In this amyotrophic lateral sclerosis clinical trial, the safety, tolerability, CNS penetrance, and modulation of pharmacodynamic target engagement
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20‐year depressive symptoms, dementia, and structural neuropathology in older women Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-09 Andrew J. Petkus, Xinhui Wang, Diana Younan, Lauren E. Salminen, Susan M. Resnick, Stephen R. Rapp, Mark A. Espeland, Margaret Gatz, Keith F. Widaman, Ramon Casanova, Helena Chui, Ryan T. Barnard, Sarah A. Gaussoin, Joseph S. Goveas, Kathleen M. Hayden, Victor W. Henderson, Bonnie C. Sachs, Santiago Saldana, Aladdin H. Shadyab, Sally A. Shumaker, Jiu‐Chiuan Chen
INTRODUCTIONThe course of depressive symptoms and dementia risk is unclear, as are potential structural neuropathological common causes.METHODSUtilizing joint latent class mixture models, we identified longitudinal trajectories of annually assessed depressive symptoms and dementia risk over 21 years in 957 older women (baseline age 72.7 years old) from the Women's Health Initiative Memory Study. In
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Regulatory T cells limit age-associated retinal inflammation and neurodegeneration Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-05 María Llorián-Salvador, Alerie G. de Fuente, Christopher E. McMurran, Amy Dashwood, James Dooley, Adrian Liston, Rosana Penalva, Yvonne Dombrowski, Alan W. Stitt, Denise C. Fitzgerald
Ageing is the principal risk factor for retinal degenerative diseases, which are the commonest cause of blindness in the developed countries. These conditions include age-related macular degeneration or diabetic retinopathy. Regulatory T cells play a vital role in immunoregulation of the nervous system by limiting inflammation and tissue damage in health and disease. Because the retina was long-considered
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An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders Mol. Neurodegener. (IF 15.1) Pub Date : 2024-04-05 Marie-France Dorion, Diana Casas, Irina Shlaifer, Moein Yaqubi, Peter Fleming, Nathan Karpilovsky, Carol X.-Q. Chen, Michael Nicouleau, Valerio E. C. Piscopo, Emma J. MacDougall, Aeshah Alluli, Taylor M. Goldsmith, Alexandria Schneider, Samuel Dorion, Nathalia Aprahamian, Adam MacDonald, Rhalena A. Thomas, Roy W. R. Dudley, Jeffrey A. Hall, Edward A. Fon, Jack P. Antel, Jo Anne Stratton, Thomas M.
Induced pluripotent stem cell-derived microglia (iMGL) represent an excellent tool in studying microglial function in health and disease. Yet, since differentiation and survival of iMGL are highly reliant on colony-stimulating factor 1 receptor (CSF1R) signaling, it is difficult to use iMGL to study microglial dysfunction associated with pathogenic defects in CSF1R. Serial modifications to an existing
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Large Language Model Performance on Practice Epilepsy Board Examinations. JAMA Neurol. (IF 29.0) Pub Date : 2024-04-08 Sara Habib, Haroon Butt, Shira R Goldenholz, Chi Yuan Chang, Daniel M Goldenholz
This diagnostic study examines whether large language models are able to pass practice licensing examinations for epilepsy.
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Early Seizure Prophylaxis in Mild and Moderate Traumatic Brain Injury JAMA Neurol. (IF 29.0) Pub Date : 2024-04-08 Matthew Pease, Adi Mittal, Sara Merkaj, David O. Okonkwo, Jorge A. Gonzalez-Martinez, Jonathan Elmer, Wen-Shyong Liou, Valeria Pingue, Flora M. Hammond, Sergiu Abramovici, James Castellano, Niravkumar Barot
ImportanceGuidelines recommend seizure prophylaxis for early posttraumatic seizures (PTS) after severe traumatic brain injury (TBI). Use of antiseizure medications for early seizure prophylaxis after mild or moderate TBI remains controversial.ObjectiveTo determine the association between seizure prophylaxis and risk reduction for early PTS in mild and moderate TBI.Data SourcesPubMed, Google Scholar
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Toward More Personalized Management of Device-Detected Atrial Fibrillation JAMA Neurol. (IF 29.0) Pub Date : 2024-04-08 James E. Siegler, Luciano A. Sposato, Shadi Yaghi
This Viewpoint discusses the need to individualize the management of subclinical atrial fibrillation according to burden (among other factors) by modeling stroke risk.
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GDF5 as a rejuvenating treatment for age-related neuromuscular failure Brain (IF 14.5) Pub Date : 2024-04-08 Traoré Massiré, Noviello Chiara, Vergnol Amélie, Gentil Christel, Halliez Marius, Saillard Lucile, Gelin Maxime, Forand Anne, Lemaitre Mégane, Guesmia Zoheir, Cadot Bruno, Caldas Eriky, Marty Benjamin, Mougenot Nathalie, Messéant Julien, Strochlic Laure, Sadoine Jeremy, Slimani Lofti, Jolly Ariane, De la Grange Pierre, Hogrel Jean-Yves, Pietri-Rouxel France, Falcone Sestina
Sarcopenia involves a progressive loss of skeletal muscle force, quality and mass during ageing, which results in increased inability and death; however, no cure has been established thus far. Growth differentiation factor 5 (GDF5) has been described to modulate muscle mass maintenance in various contexts. For our proof of concept, we overexpressed GDF5 by AAV vector injection in Tibialis Anterior
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More than 185 CAG repeats: a point of no return in Huntington’s disease biology Brain (IF 14.5) Pub Date : 2024-04-08 Jillian Belgrad, Anastasia Khvorova
This scientific commentary refers to ‘A CAG repeat threshold for therapeutics targeting somatic instability in Huntington’s disease’ by Aldous et al. (https://doi.org/10.1093/brain/awae063).
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Neurocomputational model of compulsivity: Deviating from an uncertain goal-directed system Brain (IF 14.5) Pub Date : 2024-04-08 Taekwan Kim, Sang Wan Lee, Silvia Kyungjin Lho, Sun-Young Moon, Minah Kim, Jun Soo Kwon
Despite a theory that an imbalance in goal-directed versus habitual systems serve as building blocks of compulsions, research has yet to delineate how it occurs during an arbitration process between the two systems in obsessive-compulsive disorder. Inspired by a brain model that the inferior frontal cortex selectively gates the putamen to guide goal-directed or habitual actions, this study aimed to
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Correction to “Amyloid ratios in plasma and CSF are biomarkers of pre‐symptomatic Alzheimer's disease” Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-08
Fonteh, A.N., Wu, X., Astraea, N., Elenberger, T., Buennagel, D.P., Sin, C., Spezzaferri, M., Rising, S., Nolty, A., Chui, H.C., Minazad, Y., Kloner, R.A. and Arakaki, X. (2023), Amyloid ratios in plasma and CSF are biomarkers of pre-symptomatic Alzheimer's disease. Alzheimer's Dement., 19: e079861. https://doi.org/10.1002/alz.079861 In the above article, the third author's last name was misspelled
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Cervical Dystonia Caused by Variant of ATP13A2 Responsive to Subthalamic Deep Brain Stimulation Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Mingming Zhao, Xin Yan, Lin Wang, Feng Yin
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Bodily Maps of Symptoms and Emotions in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Kalle J. Niemi, Annu Huovinen, Elina Jaakkola, Enrico Glerean, Lauri Nummenmaa, Juho Joutsa
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Clinical Utility of Tectal Plate Measurements on Magnetic Resonance Imaging in Progressive Supranuclear Palsy Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Abigail Amrami, Neha Atulkumar Singh, Farwa Ali, Nha Trang Thu Pham, Yehkyoung C. Stephens, Keith A. Josephs, Jennifer L. Whitwell
BackgroundMidbrain atrophy is a characteristic feature of progressive supranuclear palsy (PSP), observed in PSP‐Richardson's syndrome (PSP‐RS) and to a lesser extent PSP‐parkinsonism (PSP‐P).ObjectiveOur aim was to critically evaluate the utility of manual magnetic resonance imaging measurements of the midbrain tectal plate as a diagnostic biomarker in PSP.MethodsLength of the tectal plate and width
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A Novel PINK1 p.F385S Loss‐of‐Function Mutation in an Indian Family with Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Karan Sharma, Asha Kishore, Anna Lechado‐Terradas, Raffaele Passannanti, Francesco Raimondi, Marc Sturm, Ashwin Ashok Kumar Sreelatha, Divya Kalikavila Puthenveedu, Gangadhara Sarma, Nicolas Casadei, Rejko Krüger, Thomas Gasser, Philipp Kahle, Olaf Riess, Julia C. Fitzgerald, Manu Sharma
BackgroundMost Parkinson's disease (PD) loci have shown low prevalence in the Indian population, highlighting the need for further research.ObjectiveThe aim of this study was to characterize a novel phosphatase tensin homolog‐induced serine/threonine kinase 1 (PINK1) mutation causing PD in an Indian family.MethodsExome sequencing of a well‐characterized Indian family with PD. A novel PINK1 mutation
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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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Distinct spatial contributions of amyloid pathology and cerebral small vessel disease to hippocampal morphology Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-04 Kristiana Xhima, Julie Ottoy, Erin Gibson, Katherine Zukotynski, Christopher Scott, Ginelle J. Feliciano, Sabrina Adamo, Phillip H. Kuo, Michael J. Borrie, Howard Chertkow, Richard Frayne, Robert Laforce, Michael D. Noseworthy, Frank S. Prato, Demetrios J. Sahlas, Eric E. Smith, Vesna Sossi, Alexander Thiel, Jean-Paul Soucy, Jean-Claude Tardif, Maged Goubran, Sandra E. Black, Joel Ramirez
Cerebral small vessel disease (SVD) and amyloid beta (Aβ) pathology frequently co-exist. The impact of concurrent pathology on the pattern of hippocampal atrophy, a key substrate of memory impacted early and extensively in dementia, remains poorly understood.
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Investigating reliable amyloid accumulation in Centiloids: Results from the AMYPAD Prognostic and Natural History Study Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-04 Ariane Bollack, Lyduine E. Collij, David Vállez García, Mahnaz Shekari, Daniele Altomare, Pierre Payoux, Bruno Dubois, Oriol Grau-Rivera, Mercè Boada, Marta Marquié, Agneta Nordberg, Zuzana Walker, Philip Scheltens, Michael Schöll, Robin Wolz, Jonathan M. Schott, Rossella Gismondi, Andrew Stephens, Christopher Buckley, Giovanni B. Frisoni, Bernard Hanseeuw, Pieter Jelle Visser, Rik Vandenberghe, Alexander
To support clinical trial designs focused on early interventions, our study determined reliable early amyloid-β (Aβ) accumulation based on Centiloids (CL) in pre-dementia populations.
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On the effect heterogeneity of established disease susceptibility loci for Alzheimer's disease across different genetic ancestries Alzheimers Dement. (IF 14.0) Pub Date : 2024-04-02 Sanghun Lee, Julian Hecker, Georg Hahn, Kristina Mullin, , Sharon M. Lutz, Rudolph E. Tanzi, Christoph Lange, Dmitry Prokopenko
Genome-wide association studies have identified numerous disease susceptibility loci (DSLs) for Alzheimer's disease (AD). However, only a limited number of studies have investigated the dependence of the genetic effect size of established DSLs on genetic ancestry.
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Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-04-06 Rauan Kaiyrzhanov, Juan Darío Ortigoza‐Escobar, Brett W. Stringer, Manizha Ganieva, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al‐Shammari, Mohammed Al‐Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri
BackgroundBased on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3).ObjectivesWe aim to comprehensively investigate CA8‐related disorders (CA8‐RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular
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Support for network theories of schizophrenia Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-05 Martijn P. van den Heuvel, Sara L. Seoane
A computational neuroimaging study has shed new light on the relationship between morphological changes in the brain in schizophrenia and the network architecture of the brain, providing evidence to support two network theories of the disorder.
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Basic Science in Movement Disorders: Fueling the Engine of Translation into Clinical Practice Mov. Disord. (IF 8.6) Pub Date : 2024-04-04 Tiago F. Outeiro, Lorraine V. Kalia, Erwan Bezard, Juan Ferrario, Chin-Hsien Lin, Mohamed Salama, David G. Standaert, Lolade Taiwo, Ryosuke Takahashi, Miquel Vila, Brit Mollenhauer, Per Svenningsson
Basic Science is crucial for the advancement of clinical care for Movement Disorders. Here, we provide brief updates on how basic science is important for understanding disease mechanisms, disease prevention, disease diagnosis, development of novel therapies and to establish the basis for personalized medicine. We conclude the viewpoint by a call to action to further improve interactions between clinician
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De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures Mov. Disord. (IF 8.6) Pub Date : 2024-04-05 Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Joanna Blackburn, Nicholas E.F. Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J. Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J. Lubbe, Dimitri Krainc, Niccolò E. Mencacci
BackgroundFRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities.ObjectivesWe describe 2 patients presenting with childhood‐onset ataxia, nystagmus, and seizures carrying pathogenic de novo FRMD5 variants. Weighted gene co‐expression network analysis (WGCNA) was performed to gain insights into the function of FRMD5 in the brain.MethodsTrio‐based
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Diversity, equity and inclusion in neurology Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-04
In this issue of Nature Reviews Neurology, we launch a Series to highlight the importance of diversity, equity and inclusion in efforts to improve global brain health. This month, Nature Reviews Neurology launches a Series to highlight the importance of diversity, equity and inclusion in the neurology community and in neurological care to address health disparities and thereby to improve global brain
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Addressing disparities in neurology by building the workforce in LMICs Nat. Rev. Neurol. (IF 38.1) Pub Date : 2024-04-04 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 stroke neurologist Nirali Vora from the USA about her work to build neurology capacity in low and middle-income countries.
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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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Tiam1-mediated maladaptive plasticity underlying morphine tolerance and hyperalgesia Brain (IF 14.5) Pub Date : 2024-04-04 Changqun Yao, Xing Fang, Qin Ru, Wei Li, Jun Li, Zeinab Mehsein, Kimberley F Tolias, Lingyong Li
Opioid pain medications, such as morphine, remain the mainstay for treating severe and chronic pain. Prolonged morphine use, however, triggers analgesic tolerance and hyperalgesia (OIH), which can last for a long period after morphine withdrawal. How morphine induces these detrimental side effects remains unclear. Here, we show that morphine tolerance and OIH are mediated by Tiam1-coordinated synaptic