Clinical and Genetic Spectrum Study of Inherited Glycosylphosphatidylinositol Deficiency Disorders (IGDs) Background Introduction The glycosylphosphatidylinositol (GPI) anchoring pathway is crucial for post-translational modification of many important proteins in eukaryotes, which are fundamental for cell signaling and early human neurogenesis and ...
Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...
Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...
Cascading Pattern in Genetic Risk Research for Alzheimer’s Disease Background and Research Motivation Alzheimer’s disease (AD) is a slowly progressing neurodegenerative disorder characterized by the accumulation of two pathological features: amyloid plaques and phosphorylated tau neurofibrillary tangles. These pathological features typically exist ...
Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...
A2A Adenosine Receptor Exacerbates Synaptic Loss and Memory Deficits in APP/PS1 Mice Alzheimer’s disease (AD) is a neurodegenerative disorder associated with progressive cognitive decline, characterized by the deposition of extracellular β-amyloid (Aβ) plaques and the accumulation of hyperphosphorylated tau protein in neurons. Some epidemiological ...
Parkinson’s Disease Mouse Model: IL-10 Gene Delivery Inhibits Neuroinflammation and Neurodegeneration As research into the pathogenesis of Parkinson’s Disease (PD) deepens, the role of neuroinflammation in PD is gradually being revealed. This study by Simone Bido and his team, published in “Science Translational Medicine”, explores the effects of t...
A Study on the Correlation Between Different Learning Abnormalities and Delusional-like Beliefs of Various Contents Research Background Delusions are a major feature of psychotic disorders (such as schizophrenia, bipolar disorder, depression, and certain neurological and autoimmune diseases). Although delusions clinically manifest as fixed erroneou...
Introduction This report aims to reveal the recent research findings published by Hui Chen et al. in “Science Translational Medicine”, which explores the application of exogenous Acyl-Coenzyme A Binding Protein (ACBP) in Anorexia Nervosa. Anorexia Nervosa is a prevalent and difficult-to-treat eating disorder that primarily affects adolescents and y...
New Research Reveals the Mechanism of Atogepant in Migraine Prevention Background Migraine is a common and highly disruptive neurological disorder affecting millions of people worldwide. Calcitonin Gene-Related Peptide (CGRP) is believed to play a key role in the pathophysiology of migraine. CGRP released from sensory trigeminal ganglia neurons in ...