{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T21:22:57Z","timestamp":1783200177793,"version":"3.54.6"},"reference-count":52,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T00:00:00Z","timestamp":1721260800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>The unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A comprehensive assessment was conducted using Osmoscan on a diverse group of patients, including healthy controls (<jats:italic>n<\/jats:italic>\u2009=\u20099), neuroacanthocytosis syndrome patients (<jats:italic>n<\/jats:italic>\u2009=\u20096, 2 VPS13A and 4 XK disease), Parkinson\u2019s disease patients (<jats:italic>n<\/jats:italic>\u2009=\u20096), Huntington\u2019s disease patients (n\u2009=\u20095), and amyotrophic lateral sclerosis patients (<jats:italic>n<\/jats:italic>\u2009=\u20094). Concurrently, we collected and analyzed RBC indices and patients\u2019 characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Statistically significant changes were observed in NAS patients compared to healthy controls and other conditions, specifically in osmolality at minimal elongation index (O<jats:sub>min<\/jats:sub>), maximal elongation index (EI<jats:sub>max<\/jats:sub>), the osmolality at half maximal elongation index in the hyperosmotic part of the curve (O<jats:sub>hyper<\/jats:sub>), and the width of the curve close to the osmolality at maximal elongation index (O<jats:sub>max<\/jats:sub>-width).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This study represents an initial exploration of RBC properties from NAS patients using osmotic gradient ektacytometry. While specific parameters exhibited differences, only O<jats:sub>hyper<\/jats:sub> and O<jats:sub>max<\/jats:sub>-width yielded 100% specificity for other neurodegenerative diseases. Moreover, unique correlations between Osmoscan parameters and RBC indices in NAS versus controls were identified, such as osmolality at maximal elongation index (O<jats:sub>max<\/jats:sub>) vs. mean cellular hemoglobin content (MCH) and minimal elongation index (EI<jats:sub>min<\/jats:sub>) vs. red blood cell distribution width (RDW). Given the limited sample size, further studies are essential to establish diagnostic guidelines based on these findings.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fnins.2024.1406969","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T13:37:35Z","timestamp":1721309855000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Osmotic gradient ektacytometry \u2013 a novel diagnostic approach for neuroacanthocytosis syndromes"],"prefix":"10.3389","volume":"18","author":[{"given":"Carolina A.","family":"Hern\u00e1ndez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Peikert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Darras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan R. A.","family":"de Wilde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Bos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Leibowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Galea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minke A. 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