[en] [en] INTRODUCTION: 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.
METHODS: A comprehensive assessment was conducted using Osmoscan on a diverse group of patients, including healthy controls (n = 9), neuroacanthocytosis syndrome patients (n = 6, 2 VPS13A and 4 XK disease), Parkinson's disease patients (n = 6), Huntington's disease patients (n = 5), and amyotrophic lateral sclerosis patients (n = 4). Concurrently, we collected and analyzed RBC indices and patients' characteristics.
RESULTS: Statistically significant changes were observed in NAS patients compared to healthy controls and other conditions, specifically in osmolality at minimal elongation index (Omin), maximal elongation index (EImax), the osmolality at half maximal elongation index in the hyperosmotic part of the curve (Ohyper), and the width of the curve close to the osmolality at maximal elongation index (Omax-width).
DISCUSSION: This study represents an initial exploration of RBC properties from NAS patients using osmotic gradient ektacytometry. While specific parameters exhibited differences, only Ohyper and Omax-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 (Omax) vs. mean cellular hemoglobin content (MCH) and minimal elongation index (EImin) vs. red blood cell distribution width (RDW). Given the limited sample size, further studies are essential to establish diagnostic guidelines based on these findings.
Disciplines :
Physical, chemical, mathematical & earth Sciences: Multidisciplinary, general & others
Author, co-author :
Hernández, Carolina A; Department of Central Diagnostic Laboratory - Research, University Medical Center Utrecht, trecht University, Utrecht, Netherlands
Peikert, Kevin; Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany ; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, Rostock, Germany ; United Neuroscience Campus Lund-Rostock (UNC), Rostock, Germany
Qiao, Min; Dynamics of Fluids, Experimental Physics, Saarland University, Saarbrücken, Germany ; Heoretical Medicine and Biosciences, Medical Faculty, Saarland University, Homburg, Germany
de Wilde, Jonathan R A; Department of Central Diagnostic Laboratory - Research, University Medical Center Utrecht, trecht University, Utrecht, Netherlands
Bos, Jennifer; Department of Central Diagnostic Laboratory - Research, University Medical Center Utrecht, trecht University, Utrecht, Netherlands
Leibowitz, Maya; Clinical Neurosciences, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
Galea, Ian; Clinical Neurosciences, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
WAGNER, Christian ; University of Luxembourg ; Dynamics of Fluids, Experimental Physics, Saarland University, Saarbrücken, Germany
Rab, Minke A E; Department of Central Diagnostic Laboratory - Research, University Medical Center Utrecht, trecht University, Utrecht, Netherlands ; Department of Hematology, Erasmus University Medical Center, Rotterdam, Netherlands
Walker, Ruth H; Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, United States ; Department of Neurology, Mount Sinai School of Medicine, New York City, NY, United States
Hermann, Andreas; Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany ; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, Rostock, Germany ; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald, Rostock, Germany
van Beers, Eduard J; Center for Benign Hematology, Thrombosis and Hemostasis - Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
van Wijk, Richard; Department of Central Diagnostic Laboratory - Research, University Medical Center Utrecht, trecht University, Utrecht, Netherlands
Kaestner, Lars; Dynamics of Fluids, Experimental Physics, Saarland University, Saarbrücken, Germany ; Heoretical Medicine and Biosciences, Medical Faculty, Saarland University, Homburg, Germany
The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This study was supported by the European Framework Horizon 2020 under grant agreement number 860436 (EVIDENCE) and European Framework Horizon Europe under grant agreement number 101120168 (INNOVATION). KP is supported by the Rostock Academy of Science (RAS) and Andreas Hermann by the \"Hermann und Lilly Schilling-Stiftung f\u00FCr medizinische Forschung im Stifterverband.\u201D
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