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JOURNAL ARTICLE
Wei Dai, Enchao Qiu, Xiaoxue Lin, Shuhua Zhang, Mingjie Zhang, Xun Han, Zhihua Jia, Hui Su, Xiangbing Bian, Xiao Zang, Meng Li, Qingkui Zhang, Ye Ran, Zihua Gong, Xiaolin Wang, Rongfei Wang, Lixia Tian, Zhao Dong, Shengyuan Yu
OBJECTIVE: Migraine has been demonstrated to exhibit abnormal functional connectivity of large-scale brain networks, which is closely associated with its pathophysiology and hasn't yet been explored by edge functional connectivity. We employed an edge-centric approach combined with motif analysis to evaluate higher-order communication patterns of brain networks in migraine. METHODS: We investigated edge-centric metrics in 108 interictal migraine patients and 71 healthy controls...
August 28, 2023: Annals of Neurology
#22
JOURNAL ARTICLE
Eelco F M Wijdicks, Sherri Braksick, Lorenzo Rinaldo
No abstract text is available yet for this article.
August 27, 2023: Annals of Neurology
#23
JOURNAL ARTICLE
Xiaoying Kang, Alexander Ploner, Bjorn Roelstraete, Jonas F Ludvigsson, Karin Wirdefeldt
Using a population-based matched cohort design, we assessed the association of celiac disease (CeD) with risk of PD by comparing patients with biopsy-confirmed CeD in Sweden to a biopsy-free population and their unaffected siblings, separately. No overall association was observed but CeD diagnosed before age 60 associated positively with incident diagnosis of PD (HR = 1.29; 95% CI: 1.02-1.62), which was mainly attributed to the significantly elevated risk detected after 10-15 years since biopsy (HR = 1...
August 26, 2023: Annals of Neurology
#24
JOURNAL ARTICLE
Christopher M Bartley, Thomas T Ngo, Le Duy Do, Anastasia Zekeridou, Ravi Dandekar, Sergio Muñiz-Castrillo, Bonny D Alvarenga, Kelsey C Zorn, Asritha Tubati, Anne-Laurie Pinto, Weston D Browne, Patrick W Hullett, Mark Terrelonge, Ryan D Schubert, Amanda L Piquet, Yang Binxia, Mayra J Montalvo Perero, Andrew F Kung, Sabrina A Mann, Maulik P Shah, Michael D Geschwind, Jeffrey M Gelfand, Joseph L DeRisi, Sean J Pittock, Jérôme Honnorat, Samuel J Pleasure, Michael R Wilson
Co-occurring anti-tripartite motif-containing protein 9 and 67 autoantibodies (TRIM9/67-IgG) have been reported in only a very few cases of paraneoplastic cerebellar syndrome. The value of these biomarkers and the most sensitive methods of TRIM9/67-IgG detection are not known. We performed a retrospective, multi-center study to evaluate the cerebrospinal fluid (CSF) and serum of candidate TRIM9/67-IgG cases by tissue-based immunofluorescence (TBIF), peptide phage display immunoprecipitation sequencing (PhIP-Seq), overexpression cell-based assay (CBA), and immunoblot...
August 26, 2023: Annals of Neurology
#25
JOURNAL ARTICLE
Michael J Devinney, Megan K Wong, Mary Cooter Wright, Edward R Marcantonio, Niccolò Terrando, Jeffrey N Browndyke, Heather E Whitson, Harvey J Cohen, Andrea G Nackley, Marguerita E Klein, E Wesley Ely, Joseph P Mathew, Miles Berger
OBJECTIVE: Although animal models suggest a role for blood-brain barrier dysfunction in postoperative delirium-like behavior, its role in postoperative delirium and postoperative recovery in humans is unclear. Thus, we evaluated the role of blood-brain barrier dysfunction in postoperative delirium and hospital length of stay among older surgery patients. METHODS: Cognitive testing, delirium assessment, and cerebrospinal fluid and blood sampling were prospectively performed before and after non-cardiac, non-neurologic surgery...
August 24, 2023: Annals of Neurology
#26
JOURNAL ARTICLE
Leslie M Shaw, Douglas Galasko
No abstract text is available yet for this article.
August 24, 2023: Annals of Neurology
#27
JOURNAL ARTICLE
Seok-Jin Choi, Soon Ho Yoon, Jung-Joon Sung, Jong Hyuk Lee
OBJECTIVE: The purpose of this study was to present the results of our investigation of the prognostic value of adipopenia and sarcopenia in patients with amyotrophic lateral sclerosis (ALS). METHODS: Consecutive patients with ALS with abdominal computed tomography (CT) were retrospectively identified at a single tertiary hospital between January 2010 and July 2021. Deep learning-based volumetric CT body composition analysis software was used to obtain abdominal waist fat volume, fat attenuation, and skeletal muscle area at the L3 level, then normalized to the fat volume index (FVI) and skeletal muscle index (SMI)...
August 23, 2023: Annals of Neurology
#28
JOURNAL ARTICLE
Sina Sangari, Bing Chen, Francis Grover, Hoda Salsabili, Manasi Sheth, Kavita Gohil, Sara Hobbs, Amanda Olson, Ines Eisner-Janowicz, Alan Anschel, Ki Kim, David Chen, Allison Kessler, Martin Oudega, Brian K Kwon, Steven Kirshblum, James D Guest, Monica A Perez
OBJECTIVE: A motor complete spinal cord injury (SCI) results in the loss of voluntary motor control below the point of injury. Some of these patients can regain partial motor function through inpatient rehabilitation; however, there is currently no biomarker to easily identify which patients have this potential. Evidence indicates that spasticity could be that marker. Patients with motor complete SCI who exhibit spasticity show preservation of descending motor pathways, the pathways necessary for motor signals to be carried from the brain to the target muscle...
August 22, 2023: Annals of Neurology
#29
JOURNAL ARTICLE
Elisa Musto, Vivian W Y Liao, Katrine M Johannesen, Christina D Fenger, Damien Lederer, Kavitha Kothur, Katrina Fisk, Bruce Bennetts, Pascal Vrielynck, Delphine Delaby, Berten Ceulemans, Sarah Weckhuysen, Peter Sparber, Arjan Bouman, Simone Ardern-Holmes, Christopher Troedson, Domenica I Battaglia, Himanshu Goel, Timothy Feyma, Somayeh Bakhtiari, Linda Tjoa, Martin Boxill, Nina Demina, Olga Shchagina, Elena Dadali, Michael Kruer, Gaetano Cantalupo, Ilaria Contaldo, Tilman Polster, Bertrand Isidor, Stefania M Bova, Walid Fazeli, Leen Wouters, Maria J Miranda, Francesca Darra, Elisa Pede, Diana Le Duc, Rami Abou Jamra, Sébastien Küry, Jacopo Proietti, Niamh McSweeney, Elly Brokamp, Peter Ian Andrews, Marie Gouray Garcia, Mary Chebib, Rikke S Møller, Philip K Ahring, Elena Gardella
OBJECTIVE: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyse the electro-clinical features and the functional effects of GABRA1-variants to establish genotype-phenotype correlations. METHODS: Genetic and electro-clinical data of 27 individuals (22 unrelated and 2 families) harbouring 20 different GABRA1 variants were collected and accompanied with functional analysis of 19 variants...
August 22, 2023: Annals of Neurology
#30
JOURNAL ARTICLE
Hsin-Yi Kao, Yilong Yao, Tao Yang, Julie Ziobro, Mary Zylinski, Mohd Yaqub Mir, Shuntong Hu, Runnan Cao, Nurun Nahar Borna, Rajat Banerjee, Jack M Parent, Shuo Wang, Daniel K Leventhal, Peng Li, Yu Wang
OBJECTIVES: DEPDC5 is a common causative gene in familial focal epilepsy with or without malformations of cortical development. Its pathogenic variants also confer a significantly higher risk for sudden unexpected death in epilepsy (SUDEP), providing opportunities to investigate the pathophysiology intersecting neurodevelopment, epilepsy, and cardiorespiratory function. There is an urgent need to gain a mechanistic understanding of DEPDC5-related epilepsy and SUDEP, identify biomarkers for patients at high risk, and develop preventive interventions...
August 22, 2023: Annals of Neurology
#31
JOURNAL ARTICLE
Damilola D Adingupu, Taelor Evans, Ateyeh Soroush, Ayden Hansen, Scott Jarvis, Lenora Brown, Jeff F Dunn
OBJECTIVE: Multiple Sclerosis (MS) is a degenerative disease of the CNS characterized by inflammation, demyelination, and axonal damage. It has been hypothesized that hypoxia plays a role in the pathogenesis of MS. This study was undertaken to investigate the reproducibility of non-invasively measured cortical microvascular hemoglobin oxygenation (St O2 ) using frequency domain near-infrared spectroscopy (fdNIRS), investigate its temporal pattern of hypoxia in people with MS (pwMS), and its relationship with neurocognitive function and mood...
August 22, 2023: Annals of Neurology
#32
JOURNAL ARTICLE
Sashank Prasad, Tracy Batchelor
No abstract text is available yet for this article.
August 21, 2023: Annals of Neurology
#33
JOURNAL ARTICLE
Philip A Adeniyi, Xi Gong, Ellie MacGregor, Kiera Degener-O'Brien, Evelyn McClendon, Mariel Garcia, Oscar Romero, Joshua Russell, Taasin Srivastava, Jeremy Miller, C Dirk Keene, Stephen A Back
OBJECTIVE: Since the role of white matter (WM) degenerating microglia in myelination failure is unclear, we sought to define the core features of this novel population of aging human microglia. METHODS: We analyzed post-mortem human brain tissue to define a population of degenerative microglia (DM) in aging white matter lesions. We employed immunofluorescence staining and gene expression analysis to investigate molecular mechanisms related to the degeneration of DM...
August 21, 2023: Annals of Neurology
#34
JOURNAL ARTICLE
Qianmei Jiang, Decai Tian, Jing Jing
No abstract text is available yet for this article.
August 21, 2023: Annals of Neurology
#35
JOURNAL ARTICLE
Weiqian Dai, He Wang, Yongkun Zhan, Nan Li, Fei Li, Jingmin Wang, Huifang Yan, Yu Zhang, Junyu Wang, Lingqian Wu, Huili Liu, Yanjie Fan, Yue Tao, Xi Mo, Jian-Jun Yang, Kun Sun, Guiquan Chen, Yongguo Yu
OBJECTIVE: Rare variants of CCNK (cyclin K) give rise to a syndrome with intellectual disability. The purpose of this study was to describe the genotype-phenotype spectrum of CCNK-related syndrome and the underlying molecular mechanisms of pathogenesis. METHODS: We identified a number of de novo CCNK variants in unrelated patients. We generated patient-induced pluripotent stem cells (iPSCs) and neural progenitor cells (NPCs) as disease models. In addition, we constructed NPC-specific Ccnk knockout (KO) mice and performed molecular and morphological analyses...
August 19, 2023: Annals of Neurology
#36
JOURNAL ARTICLE
Rebekah V Harris, Karen L Oliver, Piero Perucca, Pasquale Striano, Angelo Labate, Antonella Riva, Bronwyn E Grinton, Joshua Reid, Jessica Hutton, Marian Todaro, Terence J O'Brien, Patrick Kwan, Lynette G Sadleir, Saul A Mullen, Emanuela Dazzo, Douglas E Crompton, Ingrid E Scheffer, Melanie Bahlo, Carlo Nobile, Antonio Gambardella, Samuel F Berkovic
OBJECTIVE: Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with febrile seizures and hippocampal sclerosis. We aimed to refine the phenotype of FMTLE by analyzing a large cohort and asked whether common risk variants for focal epilepsy and/or febrile seizures, measured by polygenic risk scores (PRS), are enriched in individuals with FMTLE...
August 19, 2023: Annals of Neurology
#37
JOURNAL ARTICLE
Grace Minogue, Allegra Kawles, Antonia Zouridakis, Rachel Keszycki, Alyssa Macomber, Vivienne Lubbat, Nathan Gill, Qinwen Mao, Margaret E Flanagan, Hui Zhang, Rudolph Castellani, Eileen H Bigio, M-Marsel Mesulam, Changiz Geula, Tamar Gefen
OBJECTIVE: Age-related dementia syndromes are often not related to a single pathophysiological process, leading to multiple neuropathologies found at autopsy. An amnestic dementia syndrome can be associated with Alzheimer's disease (AD) with comorbid transactive response DNA-binding protein 43 (TDP-43) pathology (AD/TDP). Here, we investigated neuronal integrity and pathological burden of TDP-43 and tau, along the well-charted trisynaptic hippocampal circuit (dentate gyrus [DG], CA3, and CA1) in participants with amnestic dementia due to AD/TDP, amnestic dementia due to AD alone, or non-amnestic dementia due to TDP-43 proteinopathy associated with frontotemporal lobar degeneration (FTLD-TDP)...
August 18, 2023: Annals of Neurology
#38
REVIEW
Kenneth S Kosik
Large families with autosomal dominant mutations leading to Alzheimer's disease and related conditions can reveal putative protective gene variants; however, no systematic search strategy exists to find these genes. Described here are the unique demographic circumstances and genetic setting in which the discovery of protective variants is likely. The identification of these genes may reveal pathways with therapeutic implications. This article is protected by copyright. All rights reserved.
August 13, 2023: Annals of Neurology
#39
JOURNAL ARTICLE
Wen Cao, Zhi Cao, Yao Tian, Linjing Zhang, Wenjing Wang, Lu Tang, Chenjie Xu, Dongsheng Fan
OBJECTIVE: Peripheral immune markers have been associated with the progression and prognosis of amyotrophic lateral sclerosis (ALS). However, whether dysregulation of peripheral immunity is a risk factor for ALS or a consequence of motor neuron degeneration has not yet been clarified. We aimed to identify longitudinal associations between prediagnostic peripheral immunity and the risk of incident ALS. METHODS: A total of 345,000 individuals from the UK Biobank between 2006 and 2010 were included at the baseline...
August 9, 2023: Annals of Neurology
#40
JOURNAL ARTICLE
Valentina Perosa, Corinne A Auger, Maria Clara Zanon Zotin, Jan Oltmer, Matthew P Frosch, Anand Viswanathan, Steven M Greenberg, Susanne J van Veluw
OBJECTIVE: A definite diagnosis of cerebral amyloid angiopathy (CAA), characterized by the accumulation of Amyloid-β in walls of cerebral small vessels, can only be obtained through pathological examination. A diagnosis of probable CAA during life relies on the presence of haemorrhagic markers, including lobar cerebral microbleeds (CMBs). The aim of this project was to study the histopathological correlates of lobar CMBs in false-positive CAA cases. METHODS: In three patients who met criteria for probable CAA during life, but showed no CAA upon neuropathological examination, lobar CMBs were counted on ex vivo 3 T MRI and on ex vivo 7 T MRI...
August 7, 2023: Annals of Neurology
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