Results 111 to 120 of about 1,601,102 (178)

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar, Ruo‐Yah Lai, Zena Fadel, Yicheng Lin, Pia Parekh, Rachel Griep, Ming‐Kai Pan, Sheng‐Han Kuo   +7 more
wiley   +1 more source

Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral amyloid angiopathy (CAA) involves β‐amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R2) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R2, extracted the spatial pattern of CAA‐related R2 abnormalities, and evaluated ...
Md Tahmid Yasar, Arnold M. Evia, Mahir Tazwar, Sue E. Leurgans, David A. Bennett, Julie A. Schneider, Konstantinos Arfanakis   +6 more
wiley   +1 more source

Very High‐Frequency Oscillations in Mesial Temporal Lobe Epilepsy: Identifying the Epileptogenic Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the reliability of very high‐frequency oscillations (VHFOs, 500–2000 Hz) as biomarkers in identifying the epileptogenic zone (EZ) in mesial temporal lobe epilepsy (MTLE) patients. Methods We reviewed 19 MTLE patients who underwent stereo‐electroencephalography‐guided radiofrequency thermocoagulation.
Stéphane Jean, Yihai Dai, Yan Cui, Donghuo Deng, Zhe Qian, Panashe Tevin Tagu, Weitao Chen, Weihong Liu, Xiaoqiang Wei, Xinrong Fang, Shiwei Song   +10 more
wiley   +1 more source

ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib, Kristl G. Claeys, Vera Bril, Yessar Hussain, Kelly Gwathmey, Gregory Sahagian, Elena Cortés‐Vicente, Edward Brauer, Deborah Gelinas, Anne Sumbul, Rosa H. Jimenez, Daniela Hristova, Delphine Masschaele, Renato Mantegazza, Andreas Meisel, Shahram Attarian, On behalf of the ADAPT NXT Study Group   +16 more
wiley   +1 more source

Patients' Global Impression of Change (PGIC) Score Compared to Monthly Migraine Days to Evaluate Treatment Persistence With Anti‐CGRP Monoclonal Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assessed whether continued treatment with anti‐CGRP monoclonal antibodies (mAbs) is driven more by reductions in monthly migraine days (MMDs) or patients' global impression of change (PGIC), a patient‐reported outcome. Among 169 patients treated with anti‐CGRP mAbs, 21.3% discontinued due to ineffectiveness. PGIC responders (≥ 5) at
Marina Romozzi, Catello Vollono, Paolo Calabresi, Francesco De Cesaris, Luigi Francesco Iannone   +4 more
wiley   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke, Loretta Norton, Catherine Duclos, Miriam Han, Kira Dolhan, Geoffrey Laforge, Allison Frantz, Xiaoyu Wang, Hassan Al‐Hayawi, Tianyu Zhang, Raphaël Lavoie, Adrian M. Owen, Stefanie Blain‐Moraes   +12 more
wiley   +1 more source