Neurology - Articles

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of maternal UBE3A, an E3 ubiquitin ligase essential for neuronal development, synaptic plasticity, and cognitive function. AS has traditionally been viewed as a cell-autonomous disorder in which intracellular UBE3A deficiency drives neuronal dysfunction. However, recent evidence suggests that impaired extracellular vesicle (EV)-mediated intercellular communication also contributes to disease pathophysiology. 

Perampanel (PER) occupies a singular place in anti-seizure pharmacology. As the only anti-seizure medication (ASM) that acts through selective, non-competitive blockade of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, the principal mediators of fast excitatory neurotransmission in the brain, it brings a mechanistic distinctiveness that sets it apart from agents targeting sodium channels, calcium currents, or synaptic vesicle proteins

Glycosphingosines are neuroactive lipids whose stereochemical variations are increasingly implicated in neuronal dysfunction and neurodegenerative disease processes. However, their close structural similarity renders stereoisomer-resolved analysis inaccessible to conventional LC–MS approaches, limiting mechanistic interpretation of lipid-associated neuropathology. In previous work, we demonstrated that complexation of glycosphingosine isomers with crown ethers enabled cyclic ion mobility spectrometry to resolve most of the species. Here, we investigate the energetics and structural effects of crown ether binding to interrogate the mechanism of separation enhancement.

Prion diseases, or transmissible spongiform encephalopathies (TSEs), represent a group of incurable and invariably fatal neurodegenerative disorders driven by the pathological misfolding of the prion protein (PrP) [1–6]. These diseases are characterized by a progressive clinical course and, despite their significant impact on human [7–17] and animal [1,10,18–30] health, currently lack effective therapeutic interventions [31–34] and are limited in early-stage diagnostics [1,7,31–33]. Given the broad host range of prion diseases, together with the absence of effective treatments and limited antemortem diagnostic options, continued prion disease research remains essential. 

POEMS syndrome is a rare paraneoplastic multisystemic disorder caused by an underlying monoclonal plasma-cell dyscrasia and characterized by Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder, and Skin changes. Because early manifestations often overlap with other conditions such as chronic inflammatory demyelinating polyneuropathy (CIDP) and multiple myeloma, diagnosis is frequently delayed.