Background: Neuroimaging has been increasingly used to assess brain structural alterations in patients with amyotrophic lateral sclerosis (ALS). We aimed to investigate alterations in brain sub-cortical structures and to identify potential neuroimaging biomarkers for disease progression for patients with ALS.
Methods: A total of 61 patients with ALS were prospectively enrolled and were divided into three subgroups according to disease progression, i.
Objective: In this study, we aimed to investigate retinal changes in a large cohort of amyotrophic lateral sclerosis (ALS) patients and healthy controls (HCs) to further elucidate their relationship with ALS.
Methods: This was a cross-sectional observational study. We evaluated retinal layer thickness in 134 ALS patients and 66 HCs using optical coherence tomography (OCT).
Ann Clin Transl Neurol
January 2024
Front Aging Neurosci
February 2023
Introduction: was recently identified as a novel causative gene for amyotrophic lateral sclerosis (ALS). We aimed to determine the contribution of variations in in the Chinese ALS population and to further explore the genotype-phenotype correlations.
Methods: We screened rare, putative pathogenic mutations in a large Chinese ALS cohort and performed association analysis of both rare and common variations between cases and controls.
Astrocyte aerobic glycolysis provides vital trophic support for central nervous system neurons. However, whether and how astrocytic metabolic dysregulation contributes to neuronal dysfunction in intellectual disability (ID) remain unclear. Here, we demonstrate a causal role for an ID-associated SNX27 mutation (R198W) in cognitive deficits involving reshaping astrocytic metabolism.
View Article and Find Full Text PDF