Results 111 to 120 of about 91,702 (253)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Effects of Add‐On Icosapent Ethyl With Standard Treatment on Functional Outcomes and Inflammatory Biomarkers in Acute Ischemic Stroke: A Blinded Randomized Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.
Mitra Mahmoudi Meymand, Seyed Hossein Aghamiri, Saeed Mohmammad Soleymani, Shadiyeh Bararpoor Poshkohi, Samaneh Masoudi, Hadi Esmaily   +5 more
wiley   +1 more source

Clinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang, Shaoxin Tao, Qiujia Wang, Xiaoyu Xu, Hui Yao, Zheng Liu, Dawei Li, Zhandong Qiu, Jinming Han, Jiangwei Xia, Qi Wang, Jun Sun, Kai Shao, Jiao Li, Shishuang Ruan, Yi Zhong, Jun Guo, Shougang Guo, Yue Huang, Guoliang Chai, Tao Jin, Hongyu Zhou, Junwei Hao, Yinan Zhao   +23 more
wiley   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera, Agnese Tamanti, Silvia Messina, Nicola Dall'Osto, Teresa Maltempo, Stefano Ziccardi, Matteo Foschi, Maria Grazia Piscaglia, Diana Ferraro, Francesco Crescenzo, Francesca Rossi, Albulena Bajrami, Sabrina Marangoni, Damiano Marastoni, Francesca Benedetta Pizzini, Maria Isabel Leite, Roberta Magliozzi, Patrick Waters, Massimiliano Calabrese, Jacqueline Palace, Ruth Geraldes   +20 more
wiley   +1 more source

Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias, Federica Avantaggiato, Gianni Pezzoli, Andrea Canessa   +3 more
wiley   +1 more source