Neuroacanthocytosis | List of Frontiers open access articles

Original Research

Published on 27 Mar 2025

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients

in Red Blood Cell Physiology

Anne-Sophie Cloos
Marine Ghodsi
Amaury Stommen
Steffen M. Recktenwald
Lars Kaestner
Adrian Danek
Adrian Spranger
Andreas Hermann
Kevin Peikert
Donatienne Tyteca

Frontiers in Physiology

doi 10.3389/fphys.2025.1543812

4,727 views
2 citations

Brief Research Report

Published on 18 Jul 2024

Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes

in Neurodegeneration

Carolina A. Hernández
Kevin Peikert
Min Qiao
Alexis Darras
Jonathan R. A. de Wilde
Jennifer Bos
Maya Leibowitz
Ian Galea
Christian Wagner
Minke A. E. Rab

Frontiers in Neuroscience

doi 10.3389/fnins.2024.1406969

3,452 views
3 citations

Mini Review

Published on 26 Nov 2024

Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease

in Movement Disorders

Jingqi Lin
Hongmei Meng
Nilupaer Shafeng
Jiaai Li
Huaiyu Sun
Xi Yang
Zhiqing Chen
Shuai Hou

Frontiers in Neurology

doi 10.3389/fneur.2024.1482936

3,247 views
3 citations

Editorial

Published on 30 Jun 2025

Editorial: Progress in neuroacanthocytosis syndromes and related diseases including other bulk lipid transfer disorders

in Neurodegeneration

Adrian Danek
Andreas Hermann
Lars Kaestner
Mercè Masana
Kevin Peikert
Manuel J. Rodriguez
Ruth H. Walker

Frontiers in Neuroscience

doi 10.3389/fnins.2025.1635008

1,883 views

Perspective

Published on 16 Jul 2018

Disturbed Red Blood Cell Structure and Function: An Exploration of the Role of Red Blood Cells in Neurodegeneration

in Hematology

Giel J. C. G. M. Bosman

Frontiers in Medicine

doi 10.3389/fmed.2018.00198

19,262 views
23 citations

Brief Research Report

Published on 22 Aug 2025

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families

in Neurogenetics

Xiao-Hong Lin
Bin Xiao
Ru-Kai Chen
Jia-Ying Chen
Nai-Qing Cai
Chun-Yan Cao
Li-Qiong Zhan

Frontiers in Neurology

doi 10.3389/fneur.2025.1643889

1,906 views
1 citation

Original Research

Published on 06 Jun 2022

Acanthocytes Identified in Huntington’s Disease

in Neurodegeneration

Yueyi Yu
Yuanyuan Lu
Fen Wang
Yan Lu
Beijia Xie
Xiaosheng Meng
Yi Tang

Frontiers in Neuroscience

doi 10.3389/fnins.2022.913401

5,093 views
5 citations

Case Report

Published on 02 Oct 2024

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry

in Neurodegeneration

Martin Paucar
Josephine Wincent
Charlotta Rubin
Kevin Peikert
Josefin Kyhle
Stellan Hertegård
Riita Möller
Soheir Beshara
Per Svenningsson

Frontiers in Neuroscience

doi 10.3389/fnins.2024.1409366

2,349 views

Case Report

Published on 21 Aug 2024

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

in Neurogenomics

Christine Anna Dambietz
Andrea Doescher
Michael Heming
Anja Schirmacher
Bernhard Schlüter
Andrea Schulte-Mecklenbeck
Christian Thomas
Heinz Wiendl
Gerd Meyer zu Hörste
Sarah Wiethoff

Frontiers in Genetics

doi 10.3389/fgene.2024.1421952

2,862 views
2 citations

Brief Research Report

Published on 27 Apr 2022

Erysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications

in Red Blood Cell Physiology

Steffen M. Recktenwald
Marcelle G. M. Lopes
Stephana Peter
Sebastian Hof
Greta Simionato
Kevin Peikert
Andreas Hermann
Adrian Danek
Kai van Bentum
Hermann Eichler

Frontiers in Physiology

doi 10.3389/fphys.2022.884690

7,250 views
35 citations

Articles

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients

Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes

Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease

Editorial: Progress in neuroacanthocytosis syndromes and related diseases including other bulk lipid transfer disorders

Disturbed Red Blood Cell Structure and Function: An Exploration of the Role of Red Blood Cells in Neurodegeneration

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families

Acanthocytes Identified in Huntington’s Disease

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

Erysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications