Results 91 to 100 of about 7,417,422 (355)
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee +26 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang +11 more
wiley +1 more source
Observational Study of Tocilizumab in Children With Febrile Infection‐Related Epilepsy Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aimed to assess the efficacy and safety of using tocilizumab in children with febrile infection‐related epilepsy syndrome (FIRES) and explore tocilizumab‐related changes in interleukin (IL)‐6 levels. Methods Patients with FIRES admitted to the Intensive Care Unit (ICU) of Beijing Children's Hospital were retrospectively ...
Yushan He +7 more
wiley +1 more source
Understanding Mechanisms of Whole Brain and Regional Grey Matter Atrophy in Children With MOGAD
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To investigate the mechanisms driving whole brain and regional grey matter (GM) volume changes along with their clinical correlates in paediatric myelin oligodendrocyte glycoprotein antibody (MOG‐Ab)–associated disease (MOGAD). Methods One‐hundred‐nine paediatric MOGAD patients from two UK centres underwent MRI at attack nadir and ...
Ermelinda De Meo +14 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons +8 more
wiley +1 more source
The Road Not Taken: Misclassifying an Anti‐Seizure Medication as a Failure
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To quantify how often anti‐seizure medications (ASMs) appear ineffective yet provide benefit when considering seizure frequency (SF) variability. Methods We used the CHOCOLATES seizure diary simulator to generate 100,000 patient seizure diaries that reflect natural SF variation in a heterogeneous population.
Christopher N. Henry +1 more
wiley +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer +11 more
wiley +1 more source