Journals Annals of Clinical and Transla...

Annals of Clinical and Translational Neurology
Mario Tranfa, Luigi Lorenzini, Lyduine E Collij, David Vállez García, Silvia Ingala, Giuseppe Pontillo, Leonard Pieperhoff, Alessio Maranzano, Robin Wolz, Sven Haller, Kaj Blennow, Giovanni Frisoni, Carole H Sudre, Gael Chételat, Michael Ewers, Pierre Payoux, Adam Waldman, Pablo Martinez-Lage, Adam J Schwarz, Craig W Ritchie, Joanna M Wardlaw, Juan Domingo Gispert, Arturo Brunetti, Henk J M M Mutsaerts, Alle Meije Wink, Frederik Barkhof
OBJECTIVE: Alzheimer's disease (AD) and cerebral small vessel disease (cSVD), the two most common causes of dementia, are characterized by white matter (WM) alterations diverging from the physiological changes occurring in healthy aging. Diffusion tensor imaging (DTI) is a valuable tool to quantify WM integrity non-invasively and identify the determinants of such alterations. Here, we investigated main effects and interactions of AD pathology, APOE-ε4, cSVD, and cardiovascular risk on spatial patterns of WM alterations in non-demented older adults...
May 16, 2024: Annals of Clinical and Translational Neurology
Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L Morrison, Patricia G Wheeler, Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Eulalia Turón-Viñas, Clement Prouteau, Magalie Barth, Susan J Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo
OBJECTIVE: COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). We aimed to expand the phenotypic spectrum and gain insights into the pathogenesis of COASY-related disorders...
May 15, 2024: Annals of Clinical and Translational Neurology
Ting Li, Jia-Wen Li, Ying-Hui Qin, Riu Liu, Xiao-Na Xu, Xiao Li, Li-Min Li, Bin Feng, Li Yang, Chun-Sheng Yang
OBJECTIVE: Neuromyelitis optica spectrum disorders (NMOSD) are rare inflammatory astrocytic diseases of the central nervous system (CNS). The roles of immune response gene-1 (IRG1) and the IRG1-itaconic acid-NLRP3 inflammatory pathway in the pathogenesis of NMOSD and the effects of 4-octyl itaconate (4-OI) on the NLRP3 inflammatory pathway in NMOSD are unclear. This study aimed to determine the role of IRG1 and the activation status of the NLRP3 inflammatory pathway in acute-onset NMOSD and to investigate the inhibitory effects of 4-OI on NLRP3 inflammasome activation via the IRG1-itaconic acid-NLRP3 pathway in monocytes and macrophages by using in vitro models...
May 13, 2024: Annals of Clinical and Translational Neurology
Ionuț-Flavius Bratu, Samuel Medina Villalon, Elodie Garnier, Christian-G Bénar, Fabrice Bartolomei
The postictal state, an abnormal cerebral condition following a seizure until the return to the interictal baseline, is frequently overlooked, despite often exceeding ictal duration and significantly impacting patients' lives. This study analyzes stereo-EEG (SEEG) signal dynamics using permutation entropy to quantify recovery time (postictal alteration time - PAT) in focal epilepsy and its clinical correlations. The average PAT was 4.5 min, extending up to an hour and was highest in temporal epilepsy and hippocampal sclerosis...
May 10, 2024: Annals of Clinical and Translational Neurology
Eva A Krijnen, Elsa Salim Karam, Andrew W Russo, Hansol Lee, Florence L Chiang, Menno M Schoonheim, Susie Y Huang, Eric C Klawiter
OBJECTIVE: To evaluate the intrinsic and extrinsic microstructural factors contributing to atrophy within individual thalamic subregions in multiple sclerosis using in vivo high-gradient diffusion MRI. METHODS: In this cross-sectional study, 41 people with multiple sclerosis and 34 age and sex-matched healthy controls underwent 3T MRI with up to 300 mT/m gradients using a multi-shell diffusion protocol consisting of eight b-values and diffusion time of 19 ms...
May 9, 2024: Annals of Clinical and Translational Neurology
Dan Yang, Xiangqi Luo, Shengjun Sun, Xue Zhang, Fengxia Zhang, Xingquan Zhao, Jian Zhou
OBJECTIVE: Previous resting-state functional magnetic resonance imaging studies on intracerebral hemorrhage patients have focused more on the static characteristics of brain activity, while the time-varying effects during scanning have received less attention. Therefore, the current study aimed to explore the dynamic functional network connectivity changes of intracerebral hemorrhage patients. METHODS: Using independent component analysis, the sliding window approach, and the k-means clustering analysis method, different dynamic functional network connectivity states were detected from resting-state functional magnetic resonance imaging data of 37 intracerebral hemorrhage patients and 44 healthy controls...
May 9, 2024: Annals of Clinical and Translational Neurology
Liao Guan, Wenwen Wang, Xuefei Ji, Hongwei Cheng, Weidong Du, Lei Ye
OBJECTIVE: Glioblastoma (GBM) is one of the most aggressive brain tumors and often leads to poor outcomes. Studies have indicated that glycan levels are significantly correlated with the pathogenesis and development of cancers. However, whether glycan levels can serve as diagnostic or prognostic biomarkers in GBM remains unclear. METHODS: We obtained glycomic profiles in tissue and serum samples from 55 individuals with GBM using a well-established lectin biochip platform probing with 11 specific lectins...
May 9, 2024: Annals of Clinical and Translational Neurology
Pamela J Yao, Apostolos Manolopoulos, Erden Eren, Susan Michelle Rivera, David R Hessl, Randi Hagerman, Veronica Martinez-Cerdeno, Flora Tassone, Dimitrios Kapogiannis
OBJECTIVE: Mitochondrial impairments have been implicated in the pathogenesis of Fragile X-associated tremor/ataxia syndrome (FXTAS) based on analysis of mitochondria in peripheral tissues and cultured cells. We sought to assess whether mitochondrial abnormalities present in postmortem brain tissues of patients with FXTAS are also present in plasma neuron-derived extracellular vesicles (NDEVs) from living carriers of fragile X messenger ribonucleoprotein1 (FMR1) gene premutations at an early asymptomatic stage of the disease continuum...
May 8, 2024: Annals of Clinical and Translational Neurology
Camille Montardi, Augustin Gaudemer, Mathieu Zuber, Francis Vuillemet, Jean-François Alexandra, Olivier Lidove, Wladimir Mauhin
OBJECTIVE: Fabry disease is caused by enzymatic defects in alpha-galactosidase A that leads to the accumulation of glycosphingolipids throughout the body, resulting in a multisystemic disorder. The most common neurological manifestations are neuropathic pain, autonomic nervous system dysfunction and strokes, but some rarer neurological manifestations exist. Among these, aseptic meningitis is a possible complication. Our objectives were to measure the prevalence of this complication in a cohort of patients with Fabry disease, and to describe its clinical features...
May 8, 2024: Annals of Clinical and Translational Neurology
Tobias Moser, Fabian Foettinger, Wolfgang Hitzl, Bianka Novotna, Thomas Berger, Gabriel Bsteh, Franziska Di Pauli, Harald Hegen, Barbara Kornek, Dieter Langenscheidt, Johann Sellner
BACKGROUND/OBJECTIVE: Observational real-world study to analyze the clinical effects of alemtuzumab (ALEM) and subsequent disease-modifying therapy (DMT) usage in multiple sclerosis (MS). METHODS: Data retrieved from the Austrian MS treatment registry (AMSTR) included baseline (BL) characteristics (at ALEM start), annualized relapse rate (ARR), 6-month confirmed progression independent of relapse activity (PIRA; ≥ 0.5-point Expanded Disability Status Scale (EDSS) score increase), 6-month confirmed disability improvement (CDI; ≥ 0...
May 7, 2024: Annals of Clinical and Translational Neurology
Kaarina Kowalec, Arvid Harder, Casandra Dolovich, Kathryn C Fitzgerald, Amber Salter, Yi Lu, Charles N Bernstein, James M Bolton, Gary Cutter, John D Fisk, Joel Gelernter, Lesley A Graff, Sara Hägg, Carol A Hitchon, Daniel F Levey, Fred D Lublin, Kyla A McKay, Scott Patten, Amit Patki, Murray B Stein, Hemant K Tiwari, Jerry S Wolinsky, Ruth A Marrie
OBJECTIVE: Comorbid anxiety occurs often in MS and is associated with disability progression. Polygenic scores offer a possible means of anxiety risk prediction but often have not been validated outside the original discovery population. We aimed to investigate the association between the Generalized Anxiety Disorder 2-item scale polygenic score with anxiety in MS. METHODS: Using a case-control design, participants from Canadian, UK Biobank, and United States cohorts were grouped into cases (MS/comorbid anxiety) or controls (MS/no anxiety, anxiety/no immune disease or healthy)...
May 7, 2024: Annals of Clinical and Translational Neurology
Ilya Kister, Ryan Curtin, Amanda L Piquet, Tyler Borko, Jinglan Pei, Barbara L Banbury, Tamar E Bacon, Angie Kim, Michael Tuen, Yogambigai Velmurugu, Samantha Nyovanie, Sean Selva, Marie I Samanovic, Mark J Mulligan, Yury Patskovsky, Jessica Priest, Mark Cabatingan, Ryan C Winger, Michelle Krogsgaard, Gregg J Silverman
OBJECTIVES: (1) To plot the trajectory of humoral and cellular immune responses to the primary (two-dose) COVID-19 mRNA series and the third/booster dose in B-cell-depleted multiple sclerosis (MS) patients up to 2 years post-vaccination; (2) to identify predictors of immune responses to vaccination; and (3) to assess the impact of intercurrent COVID-19 infections on SARS CoV-2-specific immunity. METHODS: Sixty ocrelizumab-treated MS patients were enrolled from NYU (New York) and University of Colorado (Anschutz) MS Centers...
May 7, 2024: Annals of Clinical and Translational Neurology
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna Poduri, Darius Ebrahimi-Fakhari
Children with developmental and epileptic encephalopathies often present with co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX-associated epilepsy-dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p...
May 6, 2024: Annals of Clinical and Translational Neurology
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait-El-Mkadem Saadi, Valérie Desquiret-Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati-Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean-Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie-Laure Martin-Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva-Bourdain, Cécile Pagan, Anne-Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis-Flucklinger, Vincent Procaccio
OBJECTIVE: The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitochondrial nuclear-encoded genes. METHODS: Over 2000 patients suspected of Primary Mitochondrial Diseases (PMD) were sequenced by either targeted gene panels, WES or WGS within MitoDiag. We described the clinical, biochemical, and molecular data of 397 genetically confirmed patients, comprising 294 children and 103 adults, carrying pathogenic or likely pathogenic variants in nuclear-encoded genes...
May 4, 2024: Annals of Clinical and Translational Neurology
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont
While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent-onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A-related disorder with c.1909+22 variant. One of these patients showed expanded phenotypic spectrum of generalised dystonia and her sister remained asymptomatic except for hypodontia. Two patients with dystonic arm tremor responded to deep brain stimulation...
May 3, 2024: Annals of Clinical and Translational Neurology
Nathan J Nakatsuka, Vihang Nakhate, Daniel S Harrison, Kristin M Galetta, Abby L Olsen
No abstract text is available yet for this article.
May 3, 2024: Annals of Clinical and Translational Neurology
Jesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, Marlin Liz, Carlos Ortez, Miguel Lafuente-Hidalgo, Laura Toledo Bravo-de Laguna, Berta Estévez-Arias, Laura Carrera-García, Jessica Expósito-Escudero, Jana Domínguez-Carral, Andres Nascimento, Daniel Natera-de Benito
OBJECTIVE: Duchenne and Becker muscular dystrophies (DMD and BMD) are dystrophinopathies caused by variants in DMD gene, resulting in reduced or absent dystrophin. These conditions, characterized by muscle weakness, also manifest central nervous system (CNS) comorbidities due to dystrophin expression in the CNS. Prior studies have indicated a higher prevalence of epilepsy in individuals with dystrophinopathy compared to the general population. Our research aimed to investigate epilepsy prevalence in dystrophinopathies and characterize associated electroencephalograms (EEGs) and seizures...
May 1, 2024: Annals of Clinical and Translational Neurology
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpi, Hakan Cetin
OBJECTIVE: Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on single case reports, neuropathological data in OPTN mutation carriers have revealed transactive response DNA-binding protein 43 kDa (TDP-43) pathology, in addition to accumulations of tau and alpha-synuclein. Herein, we present two siblings from a consanguineous family with a homozygous frameshift mutation in the OPTN gene and different clinical presentations...
April 30, 2024: Annals of Clinical and Translational Neurology
Aurelie Leplus, Petru Isan, Anne Balossier, Sarah Mouffok, Anne Donnet, Theodore Papadopoulo, Michel Lanteri-Minet, Jean Regis, Denys Fontaine
OBJECTIVE: The sensory ventroposterior (VP) thalamic nuclei display a mediolateral somatotopic organization (respectively head, arm, and leg). We studied this somatotopy using directional VP deep brain stimulation (DBS) in patients treated for chronic neuropathic pain. METHODS: Six patients with central (four) or peripheral (two) neuropathic pain were treated by VP DBS using directional leads in a prospective study ( NCT03399942). Lead-DBS toolbox was used for leads localization, visualization, and modeling of the volume of tissue activated (VTA)...
April 26, 2024: Annals of Clinical and Translational Neurology
Gemma Gorla, Antonella Potenza, Tatiana Carrozzini, Giuliana Pollaci, Francesco Acerbi, Ignazio G Vetrano, Paolo Ferroli, Isabella Canavero, Nicola Rifino, Anna Bersano, Laura Gatti
OBJECTIVE: Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterized by recurrent ischemic/hemorrhagic strokes due to progressive occlusion of the intracranial carotid arteries. The lack of reliable disease severity biomarkers led us to investigate molecular features of a Caucasian cohort of MA patients. METHODS: The participants consisted of 30 MA patients and 40 controls. We measured cerebrospinal fluid (CSF) levels of angiogenic/inflammatory factors (ELISA)...
April 24, 2024: Annals of Clinical and Translational Neurology
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