Results 141 to 150 of about 9,757,173 (343)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow   +6 more
wiley   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan   +22 more
wiley   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey   +2 more
wiley   +1 more source

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Henri J. D. Schmidt   +11 more
wiley   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki   +8 more
wiley   +1 more source

Post‐COVID Fatigue Is Associated With Reduced Cortical Thickness After Hospitalization

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuropsychiatric symptoms are among the most prevalent sequelae of COVID‐19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID‐19. However, it currently remains poorly understood how brain changes relate to post‐COVID fatigue and cognitive deficits.
Tim J. Hartung   +190 more
wiley   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo   +9 more
wiley   +1 more source

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