EDITORIAL article
Front. Neurosci.
Sec. Neurodegeneration
Volume 19 - 2025 | doi: 10.3389/fnins.2025.1635008
This article is part of the Research TopicProgress in Neuroacanthocytosis Syndromes and Related Diseases Including other Bulk Lipid Transfer DisordersView all 11 articles
Editorial: Progress in Neuroacanthocytosis Syndromes and Related Diseases Including Other Bulk Lipid Transfer Disorders
Provisionally accepted
Adrian Danek1
Andreas Hermann2
Lars Kaestner3*
Merce Masana4
Kevin Peikert2
Manuel J Rodriguez4
Ruth Walker5- 1Ludwig-Maximilians-Universitat Munchen, Munich, Germany
- 2Universitatsmedizin Rostock, Rostock, Germany
- 3Medical School, Saarland University, Saarbrücken, Germany
- 4Universitat de Barcelona, Barcelona, Spain
- 5Icahn School of Medicine at Mount Sinai, New York, United States
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The rare conditions XK disease (McLeod syndrome) and VPS13A disease (chorea-acanthocytosis), 25 have historically been termed "neuroacanthocytosis", due to the association of neurodegeneration, 26 particularly of the basal ganglia, with spiky deformed red blood cells (acanthocytes). Even more 27 obsolete is the 1960s' designation "Levine-Critchley syndrome": genetic analyses of the reported 28 families have determined that Levine´s patients were affected by mutations of XK and those of 29Critchley by VPS13A variants. Two multi-author books summarize early developments (Danek,30 2004; The articles collected here represent a number of recent advances in this rapidly-evolving field. The 94 ultimate goal is to develop and validate therapies for these devasting neurological and multi-organ 95 disorders, and additionally to add to understanding of cellular processes which may benefit other 96 fields. 97
Keywords: BLTP, VPS13, XK, neurodegeneration, neurodevelopment, Neuroacanthocytosis
Received: 25 May 2025; Accepted: 28 May 2025.
Copyright: © 2025 Danek, Hermann, Kaestner, Masana, Peikert, Rodriguez and Walker. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lars Kaestner, Medical School, Saarland University, Saarbrücken, 66421, Germany
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