Results 51 to 60 of about 957,753 (218)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

152 Lessons and experiences in recruitment and retention challenges from the Alzheimer’s disease progression after stroke study (ADAPT-MRI)

Journal of Clinical and Translational Science
Objectives/Goals: Stroke and Alzheimer’s disease (AD) often co-occur. The ADAPT-MRI study faced major enrollment challenges while assessing stroke’s impact on AD.
Ruth Yanes Bengoa, Prasen Marella, Heather Smith, Andrew Barreto, Sean Savitz, Fadi Musfee   +5 more
doaj   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Evaluating Transport Strategies and Local Hospital Impact on Stroke Outcomes: A RACECAT Trial Substudy

Stroke: Vascular and Interventional Neurology
Background The optimal strategy for transferring patients to specialized acute stroke care remains controversial. This substudy of the Effect of Direct Transportation to Thrombectomy‐Capable Center vs Local Stroke Center on Neurological Outcomes in ...
Marta Olive‐Gadea, Marc Rodrigo‐Gisbert, Alvaro Garcia‐Tornel, Salvatore Rudilosso, Alejandro Rodríguez, Antonio Doncel‐Moriano, Mariano Facundo Werner, Arturo Renú, Marian Muchada, Manuel Requena, Federica Rizzo, Natalia Pérez de la Ossa, Sònia Abilleira, Marc Ribo, Xabier Urra   +14 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Comparison of Mothership Versus Drip‐and‐Ship Models for Endovascular Treatment of Basilar Artery Occlusion in the London Metropolitan Area

Stroke: Vascular and Interventional Neurology
Background To date it is uncertain whether the drip‐and‐ship (DS) model (transport to the nearest primary stroke centers) or the mothership (MS) model (direct transportation to the comprehensive stroke center) is the best prehospital stroke system of ...
Lucio D'Anna, Andrew Falzon, Oi Yean Wong, Jonsdottir Erla, Nikola Christos, Oliver Spooner, Soma Banerjee, Liqun Zhang, Rob Simister   +8 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Mapping the developmental path for Parkinson’s disease therapeutics

npj Parkinson's Disease
The National Institute of Neurological Disorders and Stroke (NINDS) held an open workshop on April 23 and 24, 2024 to evaluate the gap between the current understanding of Parkinson’s disease (PD) and the development of therapeutics for treating PD ...
Neel T. Dhruv, Sarah Robinson Schwartz, Christine Swanson-Fischer, Hyun Joo Cho, Rebekah Corlew, Lyn Jakeman, Lauren A. Laboissonniere, Rebecca Price, Shireen Sarraf, Beth-Anne Sieber, Christine Torborg, Carl Wonders, Alice Chen-Plotkin, William J. Martin, Amir P. Tamiz   +14 more
doaj   +1 more source