Results 151 to 160 of about 3,461,601 (198)
Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
Temporal Divergence of True and False Alarms in Pediatric Nocturnal Seizure Monitoring
Annals of Clinical and Translational Neurology, EarlyView.The early‐morning surge in false seizure alarms supports exploring time‐ or state‐dependent detection thresholds to reduce false detections. ABSTRACT Seizure detection devices can improve the safety of children with epilepsy, yet high false alarms limit their clinical applicability.
Mohammad Shahbakhti +6 more
wiley +1 more source
Frequency and Phenotype of Coexisting Aquaporin‐4 and Autoimmune Encephalitis Autoantibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Among 9457 aquaporin‐4 (AQP4) immunoglobulin G‐positive patients, 2071 underwent autoimmune encephalitis antibody testing and 85 (4%) had coexisting antibodies, most commonly cerebrospinal fluid glial fibrillary acidic protein‐IgG and N‐methyl‐D‐aspartate receptor‐IgG, or serum high‐titer GAD65‐IgG.
Laura Cacciaguerra +25 more
wiley +1 more source
Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit +10 more
wiley +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source
Efficacy of Fampridine on Refractory Optic Neuritis in Neuromyelitis Optica Spectrum Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Neuromyelitis optica spectrum disorders (NMOSD) usually occur with acute refractory optic neuritis (ON). However, there is a lack of efficacious treatments to improve recovery. Since fampridine has been found to improve the prognosis of multiple sclerosis (MS) and MS‐related ON, it is necessary to explore the efficacy of fampridine ...
Hongxuan Wang +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey +52 more
wiley +1 more source