Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes

• DOI: 10.3389/fnins.2024.1406969
• Publication Date: 2024-07-18T13:37:35Z
• Authors: Carolina A. Herná...; Kevin Peikert; Min Qiao; Alexis Darras; Jonathan R. A. de...; Jennifer Bos; Maya Leibowitz; Ian Galea; Christian Wagner; Minke A. E. Rab; Ruth H. Walker; Andreas Hermann; Eduard J. van Beers; Richard van Wijk; Lars Kaestner
• Keywords: VPS13A disease; ektacytometry; Osmoscan; ddc:500; General Neuroscience; neurodegeneration; 610; 500; 600; Neurosciences. Biological psychiatry. Neuropsychiatry; RBC deformability; XK disease; ddc:610; acanthocytes; RC321-571; Neuroscience

Introduction The unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for these disorders. In this exploratory study, we assessed if Osmoscans can discriminate NAS from other neurodegenerative diseases. Methods A comprehensive assessment was conducted using Osmoscan on diverse group patients, including healthy controls ( n = 9), syndrome patients 6, 2 VPS13A and 4 XK disease), Parkinson’s disease 6), Huntington’s (n 5), amyotrophic lateral sclerosis 4). Concurrently, collected analyzed RBC indices patients’ characteristics. Results Statistically significant changes were observed in compared to conditions, specifically osmolality at minimal elongation index (O min ), maximal (EI max half hyperosmotic part curve hyper width close -width). Discussion This study represents an initial ektacytometry. While specific parameters exhibited differences, only O -width yielded 100% specificity Moreover, correlations between versus identified, such ) vs. mean cellular hemoglobin content (MCH) distribution (RDW). Given limited sample size, further studies are essential establish guidelines based findings.