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Journals Annals of Clinical and Transla...

Annals of Clinical and Translational Neurology

https://read.qxmd.com/read/38375538/neuroimaging-abnormalities-associated-with-immunotherapy-responsiveness-in-down-syndrome-regression-disorder
#21
JOURNAL ARTICLE
Jonathan D Santoro, Mellad M Khoshnood, Saba Jafarpour, Lina Nguyen, Natalie K Boyd, Benjamin N Vogel, Ryan Kammeyer, Lina Patel, Melanie A Manning, Angela L Rachubinski, Robyn A Filipink, Nicole T Baumer, Stephanie L Santoro, Catherine Franklin, Benita Tamrazi, Kristen W Yeom, Gordon Worley, Joaquin M Espinosa, Michael S Rafii
OBJECTIVE: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. METHODS: A multicenter, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30 years and meeting international consensus criteria for DSRD were included...
February 20, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38374778/impact-of-neuromyelitis-optica-spectrum-disorder-on-employment-and-income-in-the-united-states
#22
JOURNAL ARTICLE
Isabella Gomez Hjerthen, Cristina Trápaga Hacker, William Meador, Ahmed Z Obeidat, Lucas Horta, Farrah J Mateen
BACKGROUND AND OBJECTIVES: We aim to characterize the sociodemographic and clinical factors associated with loss of jobs, income, and work hours in people with neuromyelitis optica spectrum disorder (NMOSD) in the United States. METHODS: A REDCap-based survey was administered to working-age NMOSD patients (18-70 years old) querying demographic information, symptoms, immunosuppression, work hours, income, and caregiver work (11/2022-07/2023). Regression models were developed using MATLAB...
February 20, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38366789/minimally-conscious-state-plus-versus-minus-likelihood-of-emergence-and-long-term-functional-independence
#23
JOURNAL ARTICLE
Roberto Llorens, Camilla Ippoliti, María Dolores Navarro, Carolina Colomer, Anny Maza, Sandra Goizueta, José Olaya, Belén Moliner, Joan Ferri, Enrique Noé
OBJECTIVE: Severe brain injuries can result in disorders of consciousness, such as the Minimally Conscious State (MCS), where individuals display intermittent yet discernible signs of conscious awareness. The varied levels of responsiveness and awareness observed in this state have spurred the progressive delineation of two subgroups within MCS, termed "plus" (MCS+) and "minus" (MCS-). However, the clinical validity of these classifications remains uncertain. This study aimed to investigate and compare the likelihood of emergence from MCS, as well as the functional independence after emergence, in individuals categorized as in MCS+ and MCS-...
February 17, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38366285/sphingosine-1-phosphate-receptor-modulators-in-multiple-sclerosis-treatment-a-practical-review
#24
REVIEW
Patricia K Coyle, Mark S Freedman, Bruce A Cohen, Bruce A C Cree, Clyde E Markowitz
Four sphingosine 1-phosphate (S1P) receptor modulators (fingolimod, ozanimod, ponesimod, and siponimod) are approved by the US Food and Drug Administration for the treatment of multiple sclerosis. This review summarizes efficacy and safety data on these S1P receptor modulators, with an emphasis on similarities and differences. Efficacy data from the pivotal clinical trials are generally similar for the four agents. However, because no head-to-head clinical studies were conducted, direct efficacy comparisons cannot be made...
February 16, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38356101/associations-of-inflammatory-cytokines-and-cortisol-with-nonmotor-features-of-huntington-s-disease
#25
JOURNAL ARTICLE
Hiba Bilal, Stuart J McDonald, Julie C Stout, Ian H Harding
OBJECTIVE: Huntington's disease (HD) is an inherited neurodegenerative disease involving progressive motor abnormalities, cognitive decline, and psychiatric disturbances. Depression and cognitive difficulties are among the most impactful symptoms of HD, yet the pathogenesis of these symptoms is not fully understood. HD involves low-level chronic inflammation and dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, which are linked to depression and cognitive impairment in non-HD populations...
February 14, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38356047/the-central-pattern-of-weakness-of-als-morphological-correlates-in-whole-body-muscle-mri
#26
JOURNAL ARTICLE
Nathalie Wimmer, Hans-Peter Müller, Patrick Metze, Volker Rasche, Albert C Ludolph, Jan Kassubek
OBJECTIVE: Monosynaptically cortically innervated α-motoneurons are early and strongly involved in amyotrophic lateral sclerosis (ALS). Consequently, the muscles that receive the strongest direct corticomotoneuronal input are the clinically most affected. To objectify this concept in vivo through morphological image correlates, whole-body magnetic resonance imaging (MRI) with muscle signal analysis was performed in patients with ALS compared to healthy controls. METHODS: Modified Dixon-based whole-body MRI was acquired in patients with ALS (n = 33) and matched healthy controls (n = 30)...
February 14, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38337113/nih-toolbox-performance-of-persons-with-parkinson-s-disease-according-to-gba1-and-stn-dbs-status
#27
JOURNAL ARTICLE
Ahmad Almelegy, Srujanesh Gunda, Steven Buyske, Marc Rosenbaum, Sepehr Sani, Mitra Afshari, Leo V Metman, Christopher G Goetz, Deborah Hall, Mary M Mouradian, Gian Pal
OBJECTIVE: Mutations in the glucocerebrosidase (GBA1) gene and subthalamic nucleus deep brain stimulation (STN-DBS) are independently associated with cognitive dysfunction in persons with Parkinson's disease (PwP). We hypothesized that PwP with both GBA1 mutations and STN-DBS are at greater risk of cognitive dysfunction than PwP with only GBA1 mutations or STN-DBS, or neither. In this study, we determined the pattern of cognitive dysfunction in PwP based on GBA1 mutation status and STN-DBS treatment...
February 9, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38332555/cd11c-b-cells-in-relapsing-remitting-multiple-sclerosis-and-effects-of-anti-cd20-therapy
#28
JOURNAL ARTICLE
Sahla El Mahdaoui, Marie Mathilde Hansen, Marina Rode von Essen, Victoria Hyslop Hvalkof, Rikke Holm Hansen, Mie Reith Mahler, Poul Jennum, Finn Sellebjerg, Jeppe Romme Christensen
OBJECTIVES: B cells are important in the pathogenesis of multiple sclerosis. It is yet unknown which subsets may be involved, but atypical B cells have been proposed as mediators of autoimmunity. In this study, we investigated differences in B-cell subsets between controls and patients with untreated and anti-CD20-treated multiple sclerosis. METHODS: We recruited 155 participants for an exploratory cohort comprising peripheral blood and cerebrospinal fluid, and a validation cohort comprising peripheral blood...
February 8, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38327089/biallelic-variants-in-gtpbp3-new-patients-phenotypic-spectrum-and-outcome
#29
Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi
INTRODUCTION: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. CASE REPORTS: The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respiratory chain impairment was confirmed in muscle. DISCUSSION: Reviewed cases point toward clustering around two prevalent phenotypes: an early-onset presentation with severe fatal encephalopathy and a late milder presentation with global developmental delay/ID and cardiopathy, with the latter as, is the main feature...
February 7, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38318689/pitfalls-of-using-video-eeg-for-a-trial-endpoint-in-children-aged-4%C3%A2-years-with-focal-seizures
#30
JOURNAL ARTICLE
Ali Bozorg, Cynthia Beller, Lori Jensen, Alexis Arzimanoglou, Catherine Chiron, Dennis Dlugos, John Gaitanis, James W Wheless, Carrie McClung
OBJECTIVE: Double-blind, randomized, and placebo-controlled trial SP0967 (NCT02477839/2013-000717-20) did not demonstrate superior efficacy of lacosamide versus placebo in patients aged ≥1 month to <4 years with uncontrolled focal seizures, per ≤72 h video-electroencephalogram (video-EEG)-based primary endpoints (reduction in average daily frequency of focal seizures at end-of-maintenance [EOM] versus end-of-baseline [EOB], patients with ≥50% response)...
February 6, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38317016/decoding-the-biology-and-clinical-implication-of-neutrophils-in-intracranial-aneurysm
#31
JOURNAL ARTICLE
Hang Ji, Yujing Han, Danyang Jie, Yue Li, Hailan Yang, Haogeng Sun, Chao You, Anqi Xiao, Yi Liu
OBJECTIVE: Abundant neutrophils have been identified in both ruptured and unruptured intracranial aneurysm (IA) domes, with their function and clinical implication being poorly characterized. MATERIALS AND METHODS: We employed single-cell RNA sequencing (scRNA-Seq) datasets of both human and murine model, and external bulk mRNA sequencing datasets to thoroughly explore the features and functional heterogeneous of neutrophils infiltrating the IA dome. RESULTS: We found that both unruptured and ruptured IA dome contain a substantial population of neutrophils, characterized by FCGR3B, G0S2, CSF3R, and CXCR2...
February 5, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38316966/sptlc2-variants-are-associated-with-early-onset-als-and-ftd-due-to-aberrant-sphingolipid-synthesis
#32
JOURNAL ARTICLE
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early-onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these cases to enhance our understanding of disease etiology and facilitate the development of targeted therapies. METHODS: Our research commenced with an in-depth genetic and biochemical investigation of two specific families, each with a member diagnosed with early-onset ALS (onset age of <40 years)...
February 5, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38311799/recurring-homozygous-actn2-variant-p-arg506gly-causes-a-recessive-myopathy
#33
JOURNAL ARTICLE
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bönnemann
OBJECTIVE: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series. METHODS: We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant...
February 4, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38311797/safety-pharmacokinetics-and-pharmacodynamics-of-nomlabofusp-cti-1601-in-friedreich-s-ataxia
#34
JOURNAL ARTICLE
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun
OBJECTIVE: Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations. Nomlabofusp (previously CTI-1601) is a frataxin replacement therapy with a unique mechanism of action that directly addresses this underlying frataxin deficiency. Phase 1 studies assessed the safety, pharmacokinetic, and pharmacodynamic profiles of subcutaneously administered nomlabofusp in adults with Friedreich's ataxia...
February 4, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38311755/asymptomatic-spinal-lesions-in-patients-with-aqp4-igg-positive-nmosd-a-real-world-cohort-study
#35
JOURNAL ARTICLE
Shugang Cao, Yunfei Zhu, Xiaosan Wu, Jing Du, Si Xu, Ping Cui, Qi Li, Mingwu Xia, Qun Xue, Yanghua Tian
OBJECTIVE: This study aims to explore the frequency and influencing factors of asymptomatic spinal lesions (ASLs) and their impact on subsequent relapses in patients with AQP4-IgG-positive NMOSD (AQP4-NMOSD) in a real-world setting. METHODS: We retrospectively reviewed clinical information and spinal MRI data from AQP4-NMOSD patients who had at least one spinal cord MRI during their follow-ups. Kaplan-Meier curves and Cox proportional hazards models were employed to ascertain potential predictors of remission ASLs and to investigate factors associated with subsequent relapses...
February 4, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38303588/a-novel-score-to-predict-progression-in-anterior-circulation-single-subcortical-infarction-patients
#36
JOURNAL ARTICLE
Jing Lin, Shiying Ruan, Weipeng Sun, Liangbin Dong, Shumeng Li, Qin Huang, Xiaocheng Mao, Jinchong Zhang, Keji Zou, Hudie Zhang, Pengcheng Huang, Pu Fang, Xiaobing Li, Yuhua Fan, Daojun Hong
OBJECTIVE: Progressive infarction (PI) has a negative effect on functional prognosis. Our study aimed to develop and validate a risk score for predicting PI in patients with anterior circulation single subcortical infarction (ACSSI). METHODS: Between January 2020 and October 2022, we retrospectively enrolled 638 eligible patients with ACSSI. Two-thirds of the eligible patients were randomly allocated to the training cohort (n = 425). Another resampling sample was formed through the bootstrap method and was used as the validation group (n = 425)...
February 1, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38303486/fatigue-predicts-quality-of-life-after-leucine-rich-glioma-inactivated-1-antibody-encephalitis
#37
JOURNAL ARTICLE
Sophie N M Binks, Michele Veldsman, Adam E Handel, Saiju Jacob, Paul Maddison, Jan Coebergh, Sophia Michael, Sudarshini Ramanathan, Ava Easton, Mette Scheller Nissen, Maria Isabel Leite, David Okai, Morten Blaabjerg, Masud Husain, Sarosh R Irani
Patient-reported quality-of-life (QoL) and carer impacts are not reported after leucine-rich glioma-inactivated 1-antibody encephalitis (LGI1-Ab-E). From 60 patients, 85% (51 out of 60) showed one abnormal score across QoL assessments and 11 multimodal validated questionnaires. Compared to the premorbid state, QoL significantly deteriorated (p < 0.001) and, at a median of 41 months, fatigue was its most important predictor (p = 0.025). In total, 51% (26 out of 51) of carers reported significant burden...
February 1, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38287512/nationwide-survey-of-patients-with-multisystem-proteinopathy-in-japan
#38
JOURNAL ARTICLE
Satoshi Yamashita, Yuji Takahashi, Jun Hashimoto, Ayuka Murakami, Ryoichi Nakamura, Masahisa Katsuno, Rumiko Izumi, Naoki Suzuki, Hitoshi Warita, Masashi Aoki
OBJECTIVE: Multisystem proteinopathy (MSP) is an inherited disorder in which protein aggregates with TAR DNA-binding protein of 43 kDa form in multiple organs. Mutations in VCP, HNRNPA2B1, HNRNPA1, SQSTM1, MATR3, and ANXA11 are causative for MSP. This study aimed to conduct a nationwide epidemiological survey based on the diagnostic criteria established by the Japan MSP study group. METHODS: We conducted a nationwide epidemiological survey by administering primary and secondary questionnaires among 6235 specialists of the Japanese Society of Neurology...
January 29, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38287505/first-ever-acute-ischemic-strokes-in-hiv-infected-persons-a-case-control-study-from-stroke-units
#39
JOURNAL ARTICLE
Romain Stammler, Jessica Guillaume, Mikael Mazighi, Christian Denier, Igor Raynouard, Bertrand Lapergue, Thomas De Broucker, Elena Meseguer, Hassan Hosseini, Anne Leger, Didier Smadja, Catherine Lamy, Michael Obadia, Antoine Moulignier
OBJECTIVE: The stroke risk for persons living with human immunodeficiency virus (PLHIVs) doubled compared to uninfected individuals. Stroke-unit (SU)-access, acute reperfusion therapy-use and outcome data on PLHIVs admitted for acute ischemic stroke (AIS) are scarce. METHODS: AIS patients admitted (01 January 2017 to 31 January 2021) to 10 representative Paris-area SUs were screened retrospectively from the National Hospitalization Database. PLHIVs were compared to age-, initial NIHSS- and sex-matched HIV-uninfected controls (HUCs)...
January 29, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38282243/astroglial-conditional-slc13a3-knockout-is-therapeutic-in-murine-canavan-leukodystrophy
#40
JOURNAL ARTICLE
Vanessa L Hull, Yan Wang, Jennifer McDonough, Meina Zhu, Travis Burns, Najmah Al Ramel, Ali Dehghani, Fuzheng Guo, David Pleasure
Canavan disease is a leukodystrophy caused by ASPA mutations that diminish oligodendroglial aspartoacylase activity, and is characterized by markedly elevated brain concentrations of the aspartoacylase substrate N-acetyl-l-aspartate (NAA) and by astroglial and intramyelinic vacuolation. Astroglia express NaDC3 (encoded by SLC13A3), a sodium-coupled transporter for NAA and other dicarboxylates. Astroglial conditional Slc13a3 deletion in aspartoacylase-deficient Canavan disease model mice ("CD mice") reversed brain NAA elevation and improved motor function...
January 28, 2024: Annals of Clinical and Translational Neurology
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