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http://dx.doi.org/10.1080/19336950.2016.1206371 | DOI Listing |
Clin Neurol Neurosurg
October 2025
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD).
View Article and Find Full Text PDFThe T138R mutation in Aquaporin 0 (AQP0), a key membrane protein in the ocular lens, causes autosomal dominant congenital cataracts. Whilst previous studies have demonstrated that this mutation disrupts water permeability and leads to protein mislocalisation, the specific structural mechanisms underlying these functional defects remain unclear. This study employed in silico approaches to characterise how the T138R substitution affects AQP0's molecular structure and stability.
View Article and Find Full Text PDFStomatin is a ubiquitous and highly expressed protein in erythrocytes, which associates with cholesterol-rich microdomains in the plasma membrane and is known to regulate the activity of multiple ion channels and transporters, but the structural basis of association with stomatin targets remains unknown. Here we describe high-resolution structures of multiple stomatin complexes with endogenous binding partners isolated from human erythrocyte membranes, revealing that stomatin specifically associates with two membrane proteins involved in water transport and cell volume regulation, aquaporin-1 (AQP-1) and the urea transporter, UT-B (SLC14A1). Together, our results reveal the structural basis of stomatin oligomerization, membrane association, and target recruitment, and identify a putative role for stomatin in the regulation of osmotic balance in the erythrocyte.
View Article and Find Full Text PDFFront Oncol
August 2025
Unidad de Neurología y Neurocirugía, Hospital General de México, Mexico City, Mexico.
Vestibular Schwannomas are frequent tumors of the cerebellopontine angle, classically presenting with cochlear and facial nerve alteration. They tend to have histopathological and intratumoral degeneration seen on MRI, and can cause CSF obstruction with hydrocephalus with subsequent visual loss. We present a case of bilateral visual loss from papilledema, with no history of hydrocephalus or increased intracranial pressure.
View Article and Find Full Text PDFFront Immunol
September 2025
Department of Neurology, Keio University School of Medicine, Tokyo, Japan.
Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disorder of the central nervous system that predominantly affects the spinal cord and optic nerves. Aquaporin-4 antibodies have been identified as a distinguishing biomarker of NMOSD, allowing for differentiation from multiple sclerosis and other mimicking neurological conditions. Targeted monoclonal antibody treatments are evolving based on an improved understanding of the pathophysiology underlying NMOSD.
View Article and Find Full Text PDF