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JOURNAL ARTICLE
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, Alison J Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, César Augusto Pinheiro Ferreira Alves, Anna Ardissone, Renkui Bai, Isabella Peixoto de Barcelos, Enrico Bertini, Krista Bluske, John Christodoulou, Amanda R Clause, William C Copeland, George A Diaz, Daria Diodato, Matthew C Dulik, Greg Enns, Annette Feigenbaum, Carl Fratter, Daniele Ghezzi, Amy Goldstein, Andrea Gropman, Richard Haas, Amel Karaa, Mary Kay Koenig, Berrin Monteleone, Sumit Parikh, Belen Perez Duenas, Revathi Rajkumar, Ann Saada, Russell P Saneto, Kate Sergeant, John Shoffner, Conrad Smith, Christine Stanley, Isabelle Thiffault, David Thorburn, Melissa Walker, Douglas Wallace, Lee-Jun Wong, Xiaowu Gai, Marni J Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman
OBJECTIVE: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of PMD in children, but may also present in adults. A major challenge for accurate diagnosis of LSS in the genomic medicine era is establishing gene-disease relationships (GDRs) for this syndrome with >100 monogenic causes across both nuclear and mitochondrial genomes...
May 31, 2023: Annals of Neurology
#2
JOURNAL ARTICLE
Yu Cui, Yi-Ning Chen, Thanh N Nguyen, Hui-Sheng Chen
OBJECTIVE: We conducted a post hoc exploratory analysis of Remote Ischemic Conditioning for Acute Moderate Ischemic Stroke (RICAMIS) to determine whether early remote ischemic conditioning (RIC) initiation after stroke onset was associated with clinical outcome in patients with acute moderate ischemic stroke. METHODS: In RICAMIS, patients receiving RIC treatment in the intention-to-treat analysis were divided into 2 groups based on onset-to-treatment time (OTT): early RIC group (OTT ≤24 hours) and late RIC group (OTT 24-48 hours)...
May 30, 2023: Annals of Neurology
#3
JOURNAL ARTICLE
Melanie Quintana, Benjamin R Saville, Matteo Vestrucci, Michelle A Detry, Lori Chibnik, Jeremy Shefner, James D Berry, Marianne Chase, Jinsy Andrews, Alexander V Sherman, Hong Yu, Kristin Drake, Merit Cudkowicz, Sabrina Paganoni, Eric A Macklin
Platform trials allow efficient evaluation of multiple interventions for a specific disease. The HEALEY ALS Platform Trial is testing multiple investigational products in parallel and sequentially in persons with ALS with the goal of rapidly identifying novel treatments to slow disease progression. Platform trials have considerable operational and statistical efficiencies compared to typical randomized controlled trials due to their use of shared infrastructure and shared control data. We describe the statistical approaches required to achieve the objectives of a platform trial in the context of ALS...
May 28, 2023: Annals of Neurology
#4
REVIEW
Peter T Nelson, Julie A Schneider, Gregory A Jicha, Michael Tran Duong, David A Wolk
Recent therapeutic advances provide enhanced motivation for accurate diagnosis of the underlying biologic etiologic causes of dementia. This review focuses on the importance of clinical recognition of Limbic-predominant Age-related TDP-43 Encephalopathy (LATE). LATE affects approximately one-quarter of older adults and produces an amnestic syndrome that is commonly mistaken for Alzheimer's disease (AD). While AD and LATE often co-occur in the same patients, these diseases differ in the protein aggregates driving neuropathology (amyloid/tau vs...
May 28, 2023: Annals of Neurology
#5
JOURNAL ARTICLE
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Hasmet A Hanagasi, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers, Matthis Synofzik
OBJECTIVE: The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological and regulatory challenges. To facilitate trial planning, we characterize its responsiveness (including subitem-level relations to ataxia severity and patient-focused outcomes) across a large number of ataxias, and provide first natural history data for several of them. METHODS: Subitem-level correlation- and distribution-based analysis of 1637 SARA assessments in 884 patients with autosomal-recessive/early-onset ataxia (370 with 2-8 longitudinal assessments), complemented by linear mixed-effects modeling to estimate progression and sample sizes...
May 27, 2023: Annals of Neurology
#6
JOURNAL ARTICLE
Hayley S McLoughlin, Katherine Gundry, Orion Rainwater, Kristen H Schuster, Isabel G Wellik, Annie J Zalon, Michael A Benneyworth, Lynn E Eberly, Gülin Öz
OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia and biomarkers are needed to noninvasively monitor disease progression and treatment response. Anti-ATXN3 antisense oligonucleotide (ASO) treatment has been shown to mitigate neuropathology and rescue motor phenotypes in SCA3 mice. Here, we investigated if repeated ASO administration reverses brainstem and cerebellar neurochemical abnormalities by magnetic resonance spectroscopy (MRS). METHODS: Symptomatic SCA3 mice received intracerebroventricular treatment of ASO or vehicle and were compared to wild-type vehicle-treated littermates...
May 26, 2023: Annals of Neurology
#7
JOURNAL ARTICLE
Deming Jiang, Li Liu, Yu Kong, Zhongyun Chen, Pedro Rosa-Neto, Kewei Chen, Liankun Ren, Min Chu, Liyong Wu, Frontotemporal Lobar Degeneration Neuroimaging Initiative
OBJECTIVES: The glymphatic function has not yet been explored in behavioral variant frontotemporal dementia (bvFTD). The spatial correlation between regional glymphatic function and bvFTD remain unknown. METHOD: A total of 74 patients with bvFTD and 67 age- and sex-matched healthy controls (HCs) were selected from discovery dataset and replication dataset. All participant underwent neuropsychological assessment. Glymphatic measures including choroid plexus (CP) volume, diffusion tensor imaging along the perivascular (DTI-ALPS) index, and coupling between blood-oxygen-level-dependent signals and cerebrospinal fluid signals (BOLD-CSF coupling), were compared between the two groups...
May 26, 2023: Annals of Neurology
#8
LETTER
Yitao He, Hui Zhang, Jian Deng
No abstract text is available yet for this article.
May 20, 2023: Annals of Neurology
#9
JOURNAL ARTICLE
Rikke Holm Hansen, Marina Rode von Essen, Mie Reith Mahler, Stefan Cobanovic, Tomas Sorm Binko, Finn Sellebjerg
OBJECTIVES: Cladribine tablet therapy is an efficacious treatment for multiple sclerosis (MS), however, its mechanism of action on T and B cell subsets remains unclear. The purpose of this study was to investigate the treatment effects of cladribine on the peripheral pool of T and B cells subsets and reactivity towards central nervous system (CNS) antigens. METHODS: In this cross-sectional exploratory study, frequencies and absolute counts of peripheral T and B cell subsets and B cell cytokine production from untreated patients with relapsing-remitting MS (RRMS) and patients treated with cladribine for one year were measured using flow cytometry...
May 16, 2023: Annals of Neurology
#10
JOURNAL ARTICLE
A Roczkowsky, D Limonta, J P Fernandes, W G Branton, M Clarke, B Hlavay, R S Noyce, J T Joseph, N S Ogando, S K Das, M Elaish, N Arbour, D H Evans, K Langdon, T C Hobman, C Power
OBJECTIVE: Peroxisome injury occurs in the central nervous system (CNS) during multiple virus infections that result in neurological disabilities. We investigated host neuroimmune responses and peroxisome biogenesis factors during SARS-CoV-2 infection using a multiplatform strategy. METHODS: Brain tissues from COVID-19 (n=12) and other disease control (ODC) (n=12) patients, as well as primary human neural cells and Syrian hamsters, infected with a clinical variant of SARS-CoV-2, were investigated by ddPCR, RT-qPCR and immunodetection methods...
May 15, 2023: Annals of Neurology
#11
JOURNAL ARTICLE
Murad Megjhani, Kalijah Terilli, Bennett Weinerman, Daniel Nametz, Soon Bin Kwon, Angela Velazquez, Shivani Ghoshal, David J Roh, Sachin Agarwal, E Sander Connolly, Jan Claassen, Soojin Park
Increased intracranial pressure (ICP) causes disability and mortality in the neuro-intensive care population. Current methods for monitoring ICP are invasive. We designed a deep learning framework using a domain adversarial neural network to estimate noninvasive ICP, from blood pressure, electrocardiogram, and cerebral blood flow velocity. Our model had a mean of median absolute error (MAE) of 3.88+/-3.26 mmHg for the Domain adversarial neural network and 3.94+/-1.71 mmHg for the Domain Adversarial Transformers...
May 15, 2023: Annals of Neurology
#12
LETTER
Ravinder-Jeet Singh, Bijoy K Menon
No abstract text is available yet for this article.
May 15, 2023: Annals of Neurology
#13
JOURNAL ARTICLE
Jax Skye, Joel Bruss, Guillaume Herbet, Daniel Tranel, Aaron D Boes
OBJECTIVE: Time orientation is a fundamental cognitive process in which one's personal sense of time is matched with a universal reference. Time orientation is commonly assessed through mental status examination, yet its neural correlates remain unclear. Large lesions have been associated with deficits in time orientation, but the regional anatomy implicated in time disorientation is not well established. The current study investigates the anatomy of time disorientation and its network correlates in patients with focal brain lesions...
May 15, 2023: Annals of Neurology
#14
JOURNAL ARTICLE
Liqi Shu, Wei Jiang, Han Xiao, Nils Henninger, Thanh N Nguyen, James E Siegler, Adam de Havenon, Eric D Goldstein, Daniel Mandel, Maheen Rana, Fawaz Al-Mufti, Jennifer Frontera, Karen Furie, Shadi Yaghi
OBJECTIVE: Anticoagulation therapy is commonly interrupted in patients with atrial fibrillation (AF) for elective procedures. However, the risk factors of acute ischemic stroke (AIS) during the periprocedural period remain uncertain. We performed a nationwide analysis to evaluate AIS risk factors in patients with AF undergoing elective surgical procedures. METHODS: Using the Nationwide Readmission Database, we included electively admitted adult patients with AF and procedural Diagnosis-Related Group codes from 2016 to 2019...
May 15, 2023: Annals of Neurology
#15
REVIEW
M-Marsel Mesulam, Tamar Gefen, Margaret E Flanagan, Rudolph Castellani, Pouya Jamshidi, Elena Barbieri, Jaiashre Sridhar, Allegra Kawles, Sandra Weintraub, Changiz Geula, Emily Rogalski
The anatomical distribution of most neurodegenerative diseases displays considerable interindividual variations. In contrast, FTLD-TDP type C (TDP-C) shows a consistent predilection for the anterior temporal lobe (ATL). The relatively selective atrophy of ATL in TDP-C patients has highlighted the importance this region for complex cognitive and behavioral functions. This review includes observations on 28 TDP-C cases, 18 with semantic primary progressive aphasia and 10 with other syndromes. Longitudinal imaging allowed the delineation of progression trajectories...
May 15, 2023: Annals of Neurology
#16
JOURNAL ARTICLE
Mallory L Hacker, Nanditha Rajamani, Clemens Neudorfer, Barbara Hollunder, Simon Oxenford, Ningfei Li, Alice L Sternberg, Thomas L Davis, Peter E Konrad, Andreas Horn, David Charles
OBJECTIVE: To describe relationships between electrode localization and motor outcomes from the subthalamic nucleus (STN) deep brain stimulation (DBS) in early-stage Parkinson's disease (PD) pilot trial. METHODS: To determine anatomical and network correlates associated with motor outcomes for subjects randomized to early DBS (n=14), voxel-wise sweet spot mapping and structural connectivity analysis were carried out using outcomes of motor progression [Unified Parkinson Disease Rating Scale Part-III (UPDRS-III) 7-day OFF scores (∆baseline➔24 months, MedOFF/StimOFF)] and symptomatic motor improvement [UPDRS-III ON scores (%∆baseline➔24 months, MedON/StimON)]...
May 13, 2023: Annals of Neurology
#17
JOURNAL ARTICLE
Lei Yu, Vladislav A Petyuk, Katia de Paiva Lopes, Shinya Tasaki, Vilas Menon, Yanling Wang, Julie A Schneider, Philip L De Jager, David A Bennett
OBJECTIVE: VGF is proposed as a potential therapeutic target for Alzheimer's (AD) and other neurodegenerative conditions. The cell-type specific and, separately, peptide specific associations of VGF with pathologic and cognitive outcomes remain largely unknown. We leveraged gene expression and protein data from the human neocortex and investigated the VGF associations with common neuropathologies and late-life cognitive decline. METHODS: Community-dwelling older adults were followed every year, died and underwent brain autopsy...
May 13, 2023: Annals of Neurology
#18
JOURNAL ARTICLE
Babak Hooshmand, Franziska Appold, Patrick Fissler, Robert Perneczky, Markus Otto, Hayrettin Tumani, Miia Kivipelto, Christine A F von Arnim
BACKGROUND: The association between markers of vitamin B12 status and cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD), which precede cognitive impairment, has been investigated by only a few small studies and results have been inconsistent. AIM: The aim of this study was to investigate the associations of vitamin B12-related markers with CSF biomarkers of AD and cognitive performance. METHODS: Data included 462 patients aged 40 to 94 years referred to the Memory Clinic of the Ulm University Hospital, Ulm, Germany...
May 12, 2023: Annals of Neurology
#19
JOURNAL ARTICLE
Changjun Chen, Yanjun Ren, Yubin Qi, Guihui Zhang, Hongguang Hu, Kaining Zhang, Yingguang Wu, Yun Yang
No abstract text is available yet for this article.
May 2, 2023: Annals of Neurology
#20
JOURNAL ARTICLE
Matthew T Patrick, Rajan P Nair, Kevin He, Philip E Stuart, Allison C Billi, Xiang Zhou, Johann E Gudjonsson, Jorge R Oksenberg, James T Elder, Lam C Tsoi
OBJECTIVE: Psoriasis and multiple sclerosis (MS) are complex immune diseases that are mediated by T cells and share multiple comorbidities. Previous studies have suggested psoriatic patients are at higher risk of MS; however, causal relationships between the two conditions remain unclear. Through epidemiology and genetics, we provide a comprehensive understanding of the relationship, and share molecular factors between psoriasis and MS. METHODS: We used logistic regression, trans-disease meta-analysis and Mendelian randomization...
May 1, 2023: Annals of Neurology
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