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Response to the letter titled reply to “Associations of semaglutide with first-time diagnosis of Alzheimer's disease in patients with type 2 diabetes: Target trial emulation using nationwide real-world data in the US” Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-14 Rong Xu
We appreciate the opportunity to address the comments by Dr Rydberg regarding our study.1 The author raised a very interesting question regarding the early separation of the survival curves, given that Alzheimer's disease often takes many years to develop. Patients in our study population were at high risk for developing AD with an average age of 58 years. In addition, all participants had type 2 diabetes
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Reply to “Associations of semaglutide with first-time diagnosis of Alzheimer's disease in patients with type 2 diabetes: Target trial emulation using nationwide real-world data in the US” Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-14 Michael G. Rydberg
I read with great interest Wang et al.’s excellent article on the association of semaglutide with new diagnosis of Alzheimer's disease (AD).1 The authors utilized a rigorous target trial emulation framework to assess the risk of new AD diagnosis after the initiation of semaglutide compared to seven other anti-diabetic medication classes in patients with type 2 diabetes. The primary outcome was a new
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Prevalence of idiopathic normal pressure hydrocephalus in older adult population in Shanghai, China: A population-based observational study Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-14 Xuhao Fang, Xinxin Xu, Chunyan Liu, Shihong Li, Yao Deng, Feng Tang, Li Zhang, Yan Xing, Renling Mao, Jin Hu
Idiopathic normal pressure hydrocephalus (iNPH), a condition that primarily affects the elderly, has an unclear prevalence rate in China.
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Neuroprotection in acute ischaemic stroke: reasons for optimism? Lancet Neurol. (IF 46.5) Pub Date : 2025-02-13 Christopher Price
No Abstract
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Safety and efficacy of nerinetide in patients with acute ischaemic stroke enrolled in the early window: a post-hoc meta-analysis of individual patient data from three randomised trials Lancet Neurol. (IF 46.5) Pub Date : 2025-02-13 Michael Tymianski, Michael D Hill, Mayank Goyal, Jim Christenson, Bijoy K Menon, Richard H Swartz, Corey Adams, Kathy Heard, Yatika Kohli
BackgroundIn three neuroprotection trials of nerinetide for acute ischaemic stroke, inconclusive results have been reported with respect to the prespecified primary outcome. However, none of the trials faithfully replicated the inclusion criteria of the animal studies that provided the rationale for the clinical trials—ie, treatment within 3 h of stroke onset and selected for reperfusion without previous
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TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 Variants Mov. Disord. (IF 7.4) Pub Date : 2025-02-14 Jonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil, Tine Deconinck, Katrien Storm, Karine Geens, Charlotte Sommeling, David Crosiers, Emke Marechal, Willem De Ridder, Peter De Jonghe, Jonathan Baets
BackgroundThe cooccurrence of intermediate (40–49 CAG/CAA) TBP repeat expansions with STUB1 variants questions the pathogenicity of monoallelic STUB1 variants in cerebellar ataxia.ObjectiveThe objective of this study was to describe the phenotypic spectrum of heterozygous STUB1 variants with or without intermediate TBP repeat expansions.MethodsWe determined the presence of TBP repeat expansions and
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. Brain (IF 10.6) Pub Date : 2025-02-13 Andrea Cortese,Maike F Dohrn,Riccardo Curro,Sara Negri,Petra Lassuthova,Chiara Pisciotta,Stefano Tozza,Abdullah Al-Ajmi,Changyoung Feng,Pedro J Tomaselli,Gorka Fernandez-Eulate,Saif Haddad,Matilde Laurà,Alexander M Rossor,Elisa Vegezzi,Stefano Facchini,James N Sleigh,Adriana Rebelo,Danique Beijer,Jacquelyn Raposo,Mario Saporta,Barbora Lauerova,Helena F Pernice,Pascal Achenbach,Ulrike Schöne,Tayir Alon
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease remain to be defined. Notably, a multicenter phase 2/3 study to test the efficacy of govorestat (NCT05397665), a new aldose reductase inhibitor, is currently ongoing
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In Memoriam C. Warren Olanow (1941–2024) Mov. Disord. (IF 7.4) Pub Date : 2025-02-13 Victor S.C. Fung, Kailash Bhatia, David J. Burn, Christopher G. Goetz, Mark Hallett, Joseph Jankovic, Karl Kieburtz, Christine Klein, Jeffrey H. Kordower, Anthony E. Lang, Marcelo Merello, Matthew B. Stern, A. Jon Stoessl, Philip D. Thompson
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Selective Effects of Substantia Nigra and Locus Coeruleus Degeneration on Cognition in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-02-13 Sophie Sun, Victoria Madge, Jelena Djordjevic, Jean‐François Gagnon, D. Louis Collins, Alain Dagher, Madeleine Sharp
BackgroundThe substantia nigra (SN) and locus coeruleus (LC) are among the first brain regions to degenerate in Parkinson's disease (PD). This has important implications for early cognitive deficits because these nuclei are sources of ascending neuromodulators (i.e., dopamine and noradrenaline) that support various cognitive functions such as learning, memory, and executive function.ObjectiveOur aim
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Parallel changes in cognition, neuropsychiatric symptoms, and amyloid in cognitively unimpaired older adults and those with mild cognitive impairment Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Alyssa N. De Vito, Zachary J. Kunicki, Hannah E. Joyce, Edward D. Huey, Richard N. Jones
Alzheimer's disease (AD) diagnosis centers on cognitive impairment despite other early indicators like neuropsychiatric symptoms (NPSs) and amyloid beta (Aβ) accumulation. This study examined how cognition, NPS, and Aβ changes are interrelated over time in individuals without dementia.
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SSRIs reduce plasma tau and restore dorsal raphe metabolism in Alzheimer's disease Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Dylan J. Terstege, Shaista Jabeen, , Liisa A. M. Galea, Jonathan R. Epp, Derya Sargin
Tau pathology impacts neurodegeneration and cognitive decline in Alzheimer's disease (AD), with the dorsal raphe nucleus (DRN) being among the brain regions showing the earliest tau pathology. As a serotonergic hub, DRN activity is altered by selective serotonin reuptake inhibitors (SSRIs), which also have variable effects on cognitive decline and pathology in AD.
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Influence of alpha-synuclein on glucose metabolism in Alzheimer's disease continuum: Analyses of α-synuclein seed amplification assay and FDG-PET Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Elijah Mak, Scott A. Przybelski, Heather J. Wiste, Angela J. Fought, Christopher G. Schwarz, Matthew L. Senjem, Clifford R. Jack, Val J. Lowe, Ronald C. Petersen, Bradley F. Boeve, John T. O'Brien, Kejal Kantarci
We investigated the association between alpha-synuclein (α-syn) pathology and brain glucose metabolism across the cognitive spectrum of Alzheimer's disease (AD) co-pathologies.
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From mechanisms to future therapy: a synopsis of isolated REM sleep behavior disorder as early synuclein-related disease Mol. Neurodegener. (IF 14.9) Pub Date : 2025-02-11 Ambra Stefani, Elena Antelmi, Dario Arnaldi, Isabelle Arnulf, Emmanuel During, Birgit Högl, Michele M. T. Hu, Alex Iranzo, Russell Luke, John Peever, Ronald B. Postuma, Aleksandar Videnovic, Ziv Gan-Or
Parkinson disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy are synucleinopathies, characterized by neuronal loss, gliosis and the abnormal deposition of α-synuclein in vulnerable areas of the nervous system. Neurodegeneration begins however several years before clinical onset of motor, cognitive or autonomic symptoms. The isolated form of REM sleep behavior disorder (RBD),
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The Dementia SomaSignal Test (dSST): A plasma proteomic predictor of 20‐year dementia risk Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Michael R. Duggan, Clare Paterson, Yifei Lu, Hannah Biegel, Heather E. Dark, Jenifer Cordon, Murat Bilgel, Naoto Kaneko, Masaki Shibayama, Shintaro Kato, Makio Furuichi, Iwao Waga, Keita Hiraga, Masahisa Katsuno, Yukiko Nishita, Rei Otsuka, Christos Davatzikos, Guray Erus, Kelsey Loupy, Melissa Simpson, Alexandria Lewis, Abhay Moghekar, Priya Palta, Rebecca F. Gottesman, Susan M. Resnick, Josef Coresh
INTRODUCTIONThere is an unmet need for tools to quantify dementia risk during its multi‐decade preclinical/prodromal phase, given that current biomarkers predict risk over shorter follow‐up periods and are specific to Alzheimer's disease.METHODSUsing high‐throughput proteomic assays and machine learning techniques in the Atherosclerosis Risk in Communities study (n = 11,277), we developed the Dementia
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Alzheimer's disease patients have smaller venous drainage system compared to cognitively healthy controls Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Keshet Pardo, Vadim Khasminsky, Ophir Keret, Felix Benninger, Ilan Goldberg, Ilan Shelef, Eitan Auriel, Amir Glik
INTRODUCTIONOne of the pathological hallmarks of Alzheimer's disease (AD) is the accumulation of amyloid beta 42 (Aβ42). Decreased venous drainage may enhance Aβ42 accumulation. We aimed to compare venous cross‐sectional area (CSA) of AD patients to cognitively healthy controls.METHODSAll patients underwent neurocognitive evaluation and brain magnetic resonance imaging, including time‐of‐flight sequence
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Mapping reactive astrogliosis in Parkinson's brain with astroglial tracers BU99008 and Deprenyl: New insights from a multi‐marker postmortem study Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Filipa M. Rocha, Avishek Roy, Mukesh Varshney, Amit Kumar
BACKGROUNDDespite significant astrocytic involvement in Parkinson's disease (PD), the knowledge regarding the role of reactive astrogliosis is still at the surface level; largely due to lack of specific biomarkers to track these processes. Novel astroglial PET‐tracers BU99008 and Deprenyl, hold immense potential for visualizing reactive astrogliosis in PD. However, they have not been thoroughly investigated
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Prevalence of subjective cognitive decline and its association with physical health problems among urban community dwelling elderly population in South India Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Jayakumar Menon, Suvarna Jyothi Kantipudi, Stanley Vinoth, Jyothsna Devi Kuchipudi
INTRODUCTIONNo studies in India have explored subjective cognitive decline (SCD), a hallmark of stage II of preclinical Alzheimer's disease. This study aims to assess the prevalence and correlates of SCD in a South Indian, urban, elderly population.METHODSWe screened 403 individuals 60 years of age and older using the Subjective Memory Complaints Questionnaire (SMCQ) and measured objective cognition
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Tracer kinetic model detecting heterogeneous blood–brain barrier permeability to water and contrast agent in Alzheimer's disease and dementia with Lewy bodies Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Ziming Xu, Yong Ji, Chen Wen, Jinghuan Gan, Zhichao Chen, Rui Li, Xiaoqi Lin, Jiaqi Dou, Yajie Wang, Shuai Liu, Zhihong Shi, Hao Wu, Hao Lu, Huijun Chen
INTRODUCTIONBlood–brain barrier (BBB) breakdown is essential in Alzheimer's disease (AD) and dementia with Lewy bodies (DLB), whereas the variability in BBB permeability to water and contrast agent is less clear.METHODSWe investigated BBB permeability to water and contrast agent simultaneously using a novel tracer kinetic model for dynamic contrast‐enhanced magnetic resonance imaging (DCE‐MRI) in 42
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Long non‐coding RNAs as key regulators of neurodegenerative protein aggregation Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Qi Xu, Dan Liu, Ling‐Qiang Zhu, Ying Su, He‐Zhou Huang
The characteristic events in neurodegenerative diseases (NDDs) encompass protein misfolding, aggregation, accumulation, and their related cellular dysfunction, synaptic function loss. While distinct proteins are implicated in the pathological processes of different NDDs, the process of protein misfolding and aggregation remains notably similar across various conditions. Specifically, proteins undergo
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A brain DNA co‐methylation network analysis of psychosis in Alzheimer's disease Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Morteza Kouhsar, Luke Weymouth, Adam R. Smith, Jennifer Imm, Claudia Bredemeyer, Yehani Wedatilake, Ali Torkamani, Sverre Bergh, Geir Selbæk, Jonathan Mill, Clive Ballard, Robert A. Sweet, Julia Kofler, Byron Creese, Ehsan Pishva, Katie Lunnon
INTRODUCTIONThe presence of psychosis in Alzheimer's disease (AD) is suggested to be associated with distinct molecular and neuropathological profiles in the brain.METHODSWe assessed brain DNA methylation in AD donors with psychosis (AD+P) and without psychosis (AD−P) using the EPIC array. Weighted gene correlation network analysis identified modules of co‐methylated genes in a discovery cohort (PITT‐ADRC:
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White matter injury, plasma Alzheimer's disease, and neurodegenerative biomarkers on cognitive decline in community‐dwelling older adults: A 10‐year longitudinal study Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Qili Hu, Xiaowen Zhou, Zhenxu Xiao, Qianhua Zhao, Ding Ding, Jun Zhang
INTRODUCTIONThis study aimed to investigate the synergistic impact of white matter injury, Alzheimer's disease, and neurodegenerative pathology on long‐term cognitive decline and dementia risk in older adults.METHODSWe included 262 dementia‐free participants with baseline and follow‐up interviews (2010–2021). At baseline, peak width of skeletonized mean diffusivity (PSMD) was assessed from diffusion
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Age at menopause and cognitive function and decline among middle‐aged and older women in the China Health and Retirement Longitudinal Study, 2011–2018 Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Muqi Guo, Yingyan Wu, Alden L. Gross, Carrie Karvonen‐Gutierrez, Lindsay C. Kobayashi
INTRODUCTIONChinese women experience higher dementia rates than men, yet sex‐specific risk factors are understudied. We examined how menopause age affects cognitive function and decline in aging Chinese women.METHODSData were from 7419 postmenopausal women 45–101 years of age at baseline in the China Health and Retirement Longitudinal Study (CHARLS; 2011–2018). Menopause age was categorized using clinical
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Transcriptome analysis of early‐ and late‐onset Alzheimer's disease in Korean cohorts Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Sang‐Won Han, Jiyun Hwang, Tamina Park, Jung‐Min Pyun, Joo‐Yeon Lee, Jeong Su Park, Paula J. Bice, Shiwei Liu, Sunmin Yun, Jibin Jeong, Shannon L. Risacher, Andrew J. Saykin, Min Soo Byun, Dahyun Yi, Joohon Sung, Dong Young Lee, SangYun Kim, Kwangsik Nho, Young Ho Park
INTRODUCTIONThe molecular mechanisms underlying early‐onset Alzheimer's disease (EOAD) and late‐onset Alzheimer's disease (LOAD) remain incompletely understood, particularly in Asian populations.METHODSRNA‐sequencing was carried out on blood samples from 248 participants in the Seoul National University Bundang Hospital cohort to perform differential gene expression (DGE) and weighted gene co‐expression
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Predicting survival rate by plasma biomarkers and clinical variables in syndromes associated with frontotemporal lobar degeneration Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Maria Sofia Cotelli, Barbara Tarantino, Kübra Tan, Hanna Huber, Valentina Cantoni, Valeria Bracca, Roberto Gasparotti, Enrico Premi, Giancarlo Logroscino, Andrea L. Benedet, Kaj Blennow, Henrik Zetterberg, Mario Grassi, Nicholas J. Ashton, Barbara Borroni
INTRODUCTIONModeling the survival rate in syndromes associated with frontotemporal lobar degeneration (FTLD) is essential to assess disease trajectories.METHODSIn 262 patients with FTLD, we considered plasma neurofilament light chain (NfL), glial fibrillary acidic protein, brain‐derived tau, phosphorylated tau217 and amyloid beta (Aβ42/Aβ40). The FTLD Survival Score (FTLD‐SS) was calculated by the
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Remote cognitive tests predict neurodegenerative biomarkers in the Insight 46 cohort Alzheimers Dement. (IF 13.0) Pub Date : 2025-02-12 Martina Del Giovane, Valentina Giunchiglia, Ziyuan Cai, Marguerite Leoni, Rebecca Street, Kirsty Lu, Andrew Wong, Maria Popham, Jennifer M. Nicholas, William Trender, Peter J. Hellyer, Thomas D. Parker, Heidi Murray‐Smith, David M. Cash, Josephine Barnes, Carole H. Sudre, Paresh A. Malhotra, Sebastian J. Crutch, Marcus Richards, Adam Hampshire, Jonathan M. Schott
BACKGROUNDAlzheimer's disease‐related biomarkers detect pathology years before symptoms emerge, when disease‐modifying therapies might be most beneficial. Remote cognitive testing provides a means of assessing early cognitive changes. We explored the relationship between neurodegenerative biomarkers and cognition in cognitively normal individuals.METHODSWe remotely deployed 13 computerized Cognitron
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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Brain (IF 10.6) Pub Date : 2025-02-12 Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, Antonia Stehr, Alice Saparov, Lucia Abela, Miriam Adamovicova, Alexandra Afenjar, Birgit Assmann, Janette Baloghova, Matthias Baumann, Riccardo Berutti, Zuzana Brezna, Melanie Brugger, Theresa Brunet, Benjamin Cogne,
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding of the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing
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Behavioural changes in frontotemporal dementia and their cognitive and neuroanatomical correlates Brain (IF 10.6) Pub Date : 2025-02-12 Matthew A Rouse, Masud Husain, Peter Garrard, Karalyn Patterson, James B Rowe, Matthew A Lambon Ralph
Behavioural changes are a central feature of frontotemporal dementia (FTD); they occur in both behavioural-variant (bvFTD) and semantic dementia (SD)/semantic-variant primary progressive aphasia subtypes. In this study, we addressed two current clinical knowledge gaps; (i) are there qualitative or clear distinctions between behavioural profiles in bvFTD and SD, and (ii) what are the precise roles of
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Do the Right Thing: Carefully Measuring Social Determinants of Health in Neurologic Research. Neurology (IF 7.7) Pub Date : 2025-02-12 H E Hinson
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Epidural Steroids for Cervical and Lumbar Radicular Pain and Spinal Stenosis Systematic Review Summary: Report of the AAN Guidelines Subcommittee. Neurology (IF 7.7) Pub Date : 2025-02-12 Carmel Armon,Pushpa Narayanaswami,Sonja Potrebic,Gary Gronseth,Misha-Miroslav Bačkonja,Viet L Cai,James Dorman,Christopher Gilligan,Scott A Heller,Heather M Silsbee,Don B Smith
BACKGROUND AND OBJECTIVES This review systematically evaluates and incorporates evidence for the use of epidural steroid injections (ESIs) in cervical and lumbar spinal stenosis and radiculopathies, assessing short-term (≤3 months) and long-term (≥6 months) improvements in pain and disability. METHODS We searched databases for randomized controlled trials (RCTs) on the efficacy of ESIs published between
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Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders. Neurology (IF 7.7) Pub Date : 2025-02-12 Jordan Janae Cole,Jonathan P Williams,Angela D Sellitto,Laura Rosa Baratta,Julia B Huecker,Dustin Baldridge,Thomas Kannampallil,Christina A Gurnett,Joyce E Balls-Berry
BACKGROUND AND OBJECTIVES Genetic testing is critical for optimal diagnosis and management of pediatric neurology patients, but access is challenging. We investigated whether social determinants of health (SDOH) were associated with genetic testing among pediatric neurology patients in a retrospective observational study. METHODS Electronic health record data were extracted from pediatric outpatients
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Correction to: Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy. Brain (IF 10.6) Pub Date : 2025-02-11
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Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies Brain (IF 10.6) Pub Date : 2025-02-11 Chang Liu, Zhihao Xie, Qingyue Yuan, Yanyu Lu, Jianwen Deng, Zhaoxia Wang, Lingchao Meng, Yun Yuan, Zhiying Xie
We aimed to identify novel biomarkers of muscle pathological changes via a large-scale histopathology-based multi-omics study of dystrophinopathies. We performed a comparative pathological analysis of 121 Duchenne muscular dystrophy (DMD) and 114 Becker muscular dystrophy (BMD) patients to determine muscle pathological similarities and differences between DMD and BMD that have not been systematically
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Single-nucleus transcriptome atlas of the basal forebrain reveals diverse ageing-related pathways Brain (IF 10.6) Pub Date : 2025-02-11 Jiale Chen, Qianqian Li, Bingqing Ji, Ke Zhang, Miao Ren, Anan Li, Hui Gong, Jian Wang, Gang Cao, Qingming Luo, Xiangning Li
The basal forebrain is a critical brain region involved in various neurobiological processes, including learning, memory, and attention. Basal forebrain cells undergo structural and functional changes during ageing, increasing their vulnerability to neurodegenerative diseases. To reveal the molecular landscape of distinct cell types during developmental and early ageing, we constructed a comprehensive
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From heart to head: glymphatic disruption as a new pathway in heart failure Brain (IF 10.6) Pub Date : 2025-02-11 Ian F Harrison
This scientific commentary refers to ‘Loss of glymphatic homeostasis in heart failure’ by Kritsilis et al. (https://doi.org/10.1093/brain/awae411).
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Ventromedial prefrontal cortex lesions disrupt learning to reward others Brain (IF 10.6) Pub Date : 2025-02-11 Margot Gueguen, Jo Cutler, Daniel Drew, Matthew A J Apps, Deva Sanjeeva Jeyaretna, Masud Husain, Sanjay G Manohar, Patricia L Lockwood
Reinforcement learning is a fundamental process for how humans and other animals attain rewards for themselves. However, to act prosocially, we must also learn how our choices reward others. The ventromedial prefrontal cortex has been independently linked to reinforcement learning and prosocial behaviour, yet its causal impact on prosocial reinforcement learning and the roles of its multiple subregions
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Machine learning reveals connections between preclinical type 2 diabetes subtypes and brain health Brain (IF 10.6) Pub Date : 2025-02-11 Fan Yi, Jing Yuan, Fei Han, Judith Somekh, Mor Peleg, Fei Wu, Zhilong Jia, Yi-Cheng Zhu, Zhengxing Huang
Previous research has established Type 2 Diabetes Mellitus as a significant risk factor for various disorders, adversely impacting human health. While evidence increasingly links type 2 diabetes to cognitive impairment and brain disorders, understanding the causal effects of its preclinical stage on brain health is yet to be fully known. This knowledge gap hinders advancements in screening and preventing
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The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy Brain (IF 10.6) Pub Date : 2025-02-11 Davide Giampiccolo, Guillaume Herbet, Hugues Duffau
The inferior-fronto-occipital fasciculus is a long-range white matter tract that connects the prefrontal cortex with parietal, posterior temporal and occipital cortices. First identified in the nineteenth century through the pioneering studies of Mayo and Meynert using blunt dissection, its anatomy and function remain contentious topics. Structurally, its projections are well-documented in human blunt
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Electrographic and Clinical Determinants of Good Outcome After Postanoxic Status Epilepticus. Neurology (IF 7.7) Pub Date : 2025-02-11 Marjolein M Admiraal,Sofia Backman,Martin Annborn,Ola Borgquist,Josef Dankiewicz,Joachim Düring,Stephane Legriel,Gisela Lilja,Hans Lindehammer,Niklas Nielsen,Andrea O Rossetti,Johan Undén,Tobias Cronberg,Erik Westhall,
BACKGROUND AND OBJECTIVES Postanoxic electrographic status epilepticus (PSE) affects up to a third of all comatose patients after cardiac arrest (CA) and is associated with high mortality. Late PSE onset (>24 hours), from a restored continuous background pattern, and absence of established indicators of poor outcome at multimodal prognostication are described in survivors. We aimed to determine the
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The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA‐Ataxia Mov. Disord. (IF 7.4) Pub Date : 2025-02-11 Jason W. Robertson, Isaac Adanyeguh, Benjamin Bender, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Léo Coutinho, Andreas Deistung, Stefano Diciotti, Imis Dogan, Alexandra Durr, Juan Fernandez‐Ruiz, Sophia L. Göricke, Marina Grisoli, Shuo Han, Caterina Mariotti, Chiara Marzi, Mario Mascalchi, Fanny Mochel, Wolfgang Nachbauer, Lorenzo Nanetti, Anna Nigri, Sergio E. Ono, Chiadi U. Onyike, Jerry L. Prince
BackgroundSpinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterized by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2; however, the evolution and pattern of whole‐brain atrophy in SCA2 remain unclear.ObjectiveWe undertook a multisite, structural magnetic
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In Vivo Positron Emission Tomography Imaging of α‐Synuclein: A Major Breakthrough Mov. Disord. (IF 7.4) Pub Date : 2025-02-11 Sirine Hassen, Véronique Sgambato
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Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review Mov. Disord. (IF 7.4) Pub Date : 2025-02-11 Malco Rossi, Susen Schaake, Tatiana Usnich, Josephine Boehm, Nina Steffen, Nathalie Schell, Clara Krüger, Tuğçe Gül‐Demirkale, Natascha Bahr, Teresa Kleinz, Harutyun Madoev, Björn‐Hergen Laabs, Ziv Gan‐Or, Roy N. Alcalay, Katja Lohmann, Christine Klein
Depending on zygosity and the specific change, different variants in the GBA1 gene can cause Parkinson's disease (PD, PARK‐GBA1) with reduced penetrance, act as genetic risk factors for PD or parkinsonism, and/or lead to Gaucher's disease (GD). This MDSGene systematic literature review covers 27,963 patients carrying GBA1 variants from 1082 publications with 794 variants, including 13,342 patients
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A novel TEAD1::NCOA2 fusion that potentially expands the concept of supratentorial ependymoma, YAP1 fusion-positive Acta Neuropathol. (IF 9.3) Pub Date : 2025-02-10 Arnault Tauziède-Espariat, Romain Appay, Corinne Bouvier, Benoît Testud, Nadine Girard, Alice Métais, Euphrasie Servant, Didier Scavarda, Alexandra Meurgey, Daniel Pissaloux, Lauren Hasty, Pascale Varlet
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Nothing about us, without us — establishing a patient and public involvement and engagement group Nat. Rev. Neurol. (IF 28.2) Pub Date : 2025-02-10 Rachel Horne, Rosemary Phillips, Mohammed A. Rauf
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Moving towards meaningful patient and public engagement Nat. Rev. Neurol. (IF 28.2) Pub Date : 2025-02-10 Ruth Dobson, Charlotte Kenten, Joanna Brown, Clarissa Giebel, Sube Banerjee, Claudia Cooper
Patient and public involvement and engagement is increasingly mandated in funding applications, yet often remain tokenistic and transitory. Working with patient and public contributors requires investment, thought, care and time. We discuss approaches that aim to increase agency for coresearchers, with the goal of strengthening public confidence and trust in research.
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Transient Ischemic Attack-Not So Transient After All! JAMA Neurol. (IF 20.4) Pub Date : 2025-02-10 Eric E Smith,Babak B Navi
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Aligning Alzheimer Disease Biology With Care. JAMA Neurol. (IF 20.4) Pub Date : 2025-02-10 Fred B Ketchum,Nathaniel A Chin,Joshua D Grill
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Cognitive Decline After First-Time Transient Ischemic Attack JAMA Neurol. (IF 20.4) Pub Date : 2025-02-10 Victor A. Del Bene, George Howard, Toby I. Gropen, Michael J. Lyerly, Virginia J. Howard, Russell P. Sawyer, Ronald M. Lazar
ImportancePrior research suggests reduced cognitive function after transient ischemic attack (TIA). Whether this is directly related to the TIA, a function of preexisting risk factors, or prior cognitive decline remains unclear.ObjectiveTo study if a single, diffusion-weighted image–negative, adjudicated TIA is associated with longitudinal declines in cognition, independent of preexisting risk factors
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Detection of Alzheimer Neuropathology in Alzheimer and Non-Alzheimer Clinical Syndromes With Blood-Based Biomarkers JAMA Neurol. (IF 20.4) Pub Date : 2025-02-10 Lawren VandeVrede, Hanna Cho, Mark Sanderson-Cimino, Fattin Wekselman, Yann Cobigo, Maria Luisa Gorno-Tempini, Hilary W. Heuer, Joel H. Kramer, Argentina Lario Lago, Dana Leichter, Peter Ljubenkov, Bruce L. Miller, David C. Perry, Gil D. Rabinovici, Julio C. Rojas, Howard J. Rosen, Rowan Saloner, Adam Staffaroni, Gallen Triana-Baltzer, Salvatore Spina, William W. Seeley, Lea T. Grinberg, Hartmuth C
ImportanceBlood-based biomarkers for Alzheimer disease (AD) are clinically available, but their value is not well understood in syndromes typically associated with frontotemporal lobar degeneration syndromes (FTLD).ObjectiveTo investigate the clinical importance and detectability of AD in FTLD-related neurodegenerative syndromes using 3 plasma biomarkers, phosphorylated tau 217 (p-tau217), neurofilament
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Central Retinal Artery Occlusion With Cilioretinal Artery Sparing After Semaglutide Injection JAMA Neurol. (IF 20.4) Pub Date : 2025-02-10 Julie M. Shabto, Jin Kyun Oh, Tarun Sharma
This case report highlights a temporal relationship between the use of a glucagon-like peptide-1 receptor (GLP-1) agonist and the occurrence of central retinal artery occlusion.
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Involvement of the Nigrostriatal Pathway in Patients With Idiopathic Normal Pressure Hydrocephalus and Parkinsonism. Neurology (IF 7.7) Pub Date : 2025-02-10 Giovanni Palermo,Alessio Francesconi,Gabriele Bellini,Riccardo Morganti,Gianmichele Migaleddu,Davide Tiziano Di Carlo,Paolo Perrini,Nicola Benedetto,Claudio Pacchetti,Duccio Volterrani,Mirco Cosottini,Alfonso Fasano,Roberto Ceravolo
BACKGROUND AND OBJECTIVES Idiopathic normal pressure hydrocephalus (iNPH) is characterized by gait disturbance, cognitive decline, and urinary incontinence and may include parkinsonism. The underlying mechanism of parkinsonism in iNPH-whether neurodegenerative or mechanical-remains unclear. This study aimed to assess nigrostriatal integrity in iNPH patients with parkinsonism using dopaminergic transporter
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Consensus Recommendations to Establish Reporting Standards in fMRI of Migraine: A Delphi Study. Neurology (IF 7.7) Pub Date : 2025-02-10 Severin Schramm,Corinna Börner-Schröder,Miriam Reichert,Constanze Ramschütz,Xiao Michelle Androulakis,Messoud Ashina,Gianluca Coppola,Brett Cucchiara,Zhao Dong,Xiaoxia Du,Laura H Fischer-Schulte,Peter J Goadsby,Rune Häckert Christensen,Luke A Henderson,Anders Hougaard,Jian-Ren Liu,Gabriella Juhasz,Nazia Karsan,Jian Kong,Jeungchan Lee,Mi Ji Lee,Clas Linnman,Vani Mathur,Arne May,Jan Mehnert,Eric Moulton
BACKGROUND AND OBJECTIVES Migraine is a multifaceted primary headache disorder. In neuroimaging of migraine, fMRI has been used to elucidate pathophysiology or monitor treatment effects. The current literature, however, is highly heterogeneous regarding reported variables and methodologies. This begets a lack of comparability and complicates synthesis of results across studies. We developed a framework
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How microlearning is reshaping neurology and neuroscience Brain (IF 10.6) Pub Date : 2025-02-09 Stefano Sandrone
Microlearning is changing how we learn, formally and informally, one piece at a time. Stefano Sandrone explores its benefits and limitations, and its impact on the world of neuroscience.
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Movement Disorders after Dengue Virus Infection: A Scoping Review Mov. Disord. (IF 7.4) Pub Date : 2025-02-09 Elena Cecilia Rosca, Divyani Garg, Santiago Perez‐Lloret, Norlinah Mohamed Ibrahim, Onanong Phokaewvarangkul, Jirada Sringean, Vikram Holla, Ravi Yadav, Soaham Desai, Pramod Kumar Pal
Movement disorders after dengue virus (DENV) infection have been increasingly recognized. We aimed to synthesize the clinical and paraclinical characteristics, treatment responses, and outcomes of these neurologic complications. We systematically reviewed PubMed, Embase, Scopus, and LILACS databases up to September 2023 following a published protocol. We identified 73 cases of DENV‐induced movement
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Perivascular glial reactivity is a feature of phosphorylated tau lesions in chronic traumatic encephalopathy Acta Neuropathol. (IF 9.3) Pub Date : 2025-02-08 Chelsie Osterman, Danica Hamlin, Catherine M. Suter, Andrew J. Affleck, Brian S. Gloss, Clinton P. Turner, Richard L. M. Faull, Thor D. Stein, Ann McKee, Michael E. Buckland, Maurice A. Curtis, Helen C. Murray
Chronic traumatic encephalopathy (CTE), a neurodegenerative disease associated with repetitive head injuries, is characterised by perivascular hyperphosphorylated tau (p-tau) accumulations within the depths of cortical sulci. Although the majority of CTE literature focuses on p-tau pathology, other pathological features such as glial reactivity, vascular damage, and axonal damage are relatively unexplored
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The transcription factor combination MEF2 and KLF7 promotes axonal sprouting in the injured spinal cord with functional improvement and regeneration-associated gene expression Mol. Neurodegener. (IF 14.9) Pub Date : 2025-02-08 Callan L. Attwell, Inés Maldonado-Lasunción, Ruben Eggers, Bastiaan A. Bijleveld, Ward M. Ellenbroek, Natascha Siersema, Lotte Razenberg, Dédé Lamme, Nitish D. Fagoe, Ronald E. van Kesteren, August B. Smit, Joost Verhaagen, Matthew R. J. Mason
Axon regeneration after injury to the central nervous system (CNS) is limited by an inhibitory environment but also because injured neurons fail to initiate expression of regeneration associated genes (RAGs). The potential of strong RAG expression to promote regeneration in the CNS is exemplified by the conditioning lesion model, whereby peripheral nerve injury promotes regeneration of centrally projecting
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Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration Mol. Neurodegener. (IF 14.9) Pub Date : 2025-02-07 Ting Shen, Jacob W. Vogel, Vivianna M. Van Deerlin, EunRan Suh, Laynie Dratch, Jeffrey S. Phillips, Lauren Massimo, Edward B. Lee, David J. Irwin, Corey T. McMillan
Cortical atrophy is a common manifestation in behavioral variant frontotemporal degeneration (bvFTD), exhibiting spatial heterogeneity across various genetic subgroups, which may be driven by distinct biological mechanisms. We employed an integrative imaging transcriptomics approach to identify both disparate and shared transcriptomic signatures associated with cortical thickness in bvFTD with C9orf72
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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice Mol. Neurodegener. (IF 14.9) Pub Date : 2025-02-07 Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the loss of both upper and lower motor neurons, leading to progressive paralysis. Both genetic alterations and epigenetic modifications contribute to neuronal dysfunction in the pathogenesis of ALS. However, the mechanism behind genetic mutations in the non-coding region of genes that affect epigenetic modifications
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TEAD1::NCOA2 fusion driver in primary central nervous system malignancy: case report Acta Neuropathol. (IF 9.3) Pub Date : 2025-02-07 Agnesa Panferova, Maria Senchenko, Margarita Zaytseva, Yuliya Rasskazova, Ruslan Abasov, Alexandra Tarakanova, Natalia Usman, Ludmila Papusha, Alexander Druy
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain (IF 10.6) Pub Date : 2025-02-07 Kevin T A Booth,Sharayu V Jangam,Martin M C Chui,Kayla Treat,Lorenzo Graziani,Alessia Soldano,Yao Ruan,Jeffrey Wan-Hei Hui,Kerry White,Celanie K Christensen,Ty Lynnes,Shinya Yamamoto,Oguz Kanca,Mandy H Y Tsang,Sally A Lynch,Sureni V Mullegama,Julia Batista,Daniela Iancu,Shelagh K Joss,Sandra Y Y Wong,Christopher C Y Mak,Anna K Y Kwong,Hugo J Bellen,Erin Conboy,Remo Sanges,Anskar Yu-Hung Leung,Michael
DDX39B is a conserved member of the DEAD-box family of ATP-dependent RNA helicases, critical in mRNA metabolism across eukaryotes. DDX39B is also a core component of the TRanscription-EXport (TREX) super protein complex, which recent studies have highlighted the important role of its subunits in neurodevelopmental disorders. Here, we describe six individuals from five families, four harboring de novo
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The Use of Blood-Based Proteomic Biomarkers for the Diagnosis of Sports-Related Concussion. Neurology (IF 7.7) Pub Date : 2025-02-07 Daniel Whitehouse,Virginia Newcombe