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

Background and objectivesThe diseases historically known as neuroacanthocytosis (NA) conditions include VPS13A disease (formerly chorea-acanthocytosis) and XK disease (formerly McLeod syndrome). Here we report a patient with a hyperkinetic syndrome associated with variants in VPS13A with a concomita...

Full description

Bibliographic Details
Published in:	Frontiers in Neuroscience
Main Authors:	Martin Paucar, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Riita Möller, Soheir Beshara, Per Svenningsson
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-10-01
Subjects:	neuroacanthocytosis ektacytometry VPS13A VPS13A disease feeding dystonia
Online Access:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1409366/full

Similar Items

Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes
by: Carolina A. Hernández, et al.
Published: (2024-07-01)

Editorial: Progress in neuroacanthocytosis syndromes and related diseases including other bulk lipid transfer disorders
by: Adrian Danek, et al.
Published: (2025-06-01)

Proceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes
by: Kevin Peikert, et al.
Published: (2018-07-01)

Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
by: Xi Chen, et al.
Published: (2023-10-01)

Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease
by: Jingqi Lin, et al.
Published: (2024-11-01)

Neuroacanthocytosis: a case report of chorea-acanthocytosis
by: Yuanyuan Xiang, Shan Li, Xiaohui Liu, Jifeng, Li, Qinjian, Sun, Yan, Chen, Yifeng Du, Junwei Wu
Published: (2019-06-01)

An optimized temporally controlled Gal4 system in Drosophila reveals degeneration caused by adult-onset neuronal Vps13D knockdown
by: Emily Rozich, et al.
Published: (2023-06-01)

Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
by: Kang Li, et al.
Published: (2023-09-01)

Cohen syndrome due to a novel VPS13B mutation in a Chinese family
by: Shu-ying Cai, et al.
Published: (2022-06-01)

Soybean isoflavones protect dopaminergic neurons from atrazine damage by inhibiting VPS13A to increase autophagy
by: Peng Li, et al.
Published: (2024-11-01)

VPS13D affects epileptic seizures by regulating mitochondrial fission and autophagy in epileptic rats
by: Jian Wang, et al.
Published: (2024-11-01)

Tiny-VPS: Tiny Video Panoptic Segmentation Standing on the Shoulder of Giant-VPS
by: Qingfeng Liu, et al.
Published: (2025-01-01)

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
by: Fang-Mei Luo, et al.
Published: (2021-02-01)

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
by: Derek Spieler, et al.
Published: (2020-09-01)

Circular RNA-VPS13A attenuates diabetes-induced enteric glia damage by targeting miR-182/GDNF axis
by: Zhu Xiaowei, et al.
Published: (2022-07-01)

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families
by: Xiao-Hong Lin, et al.
Published: (2025-08-01)

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome
by: Gudrun Schottmann, et al.
Published: (2024-12-01)

VPS13 and bridge-like lipid transporters, mechanisms, and mysteries
by: Laura Elizabeth Swan
Published: (2025-04-01)

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility
by: Wondwossen M Yeshaw, et al.
Published: (2019-02-01)

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
by: Charlotte Montillot, et al.
Published: (2023-09-01)

Pharmacological interventions for lipid transport disorders
by: Aaron M. Neiman
Published: (2023-12-01)

Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification
by: Alexis Darras, et al.
Published: (2021-04-01)

The Vps21 signalling pathway regulates white-opaque switching and mating in Candida albicans
by: Fei Zhao, et al.
Published: (2025-01-01)

Preserved VPS13A distribution and expression in Huntington’s disease: divergent mechanisms of action for similar movement disorders?
by: Esther García-García, et al.
Published: (2024-06-01)

Activation Mechanisms of the VPS34 Complexes
by: Yohei Ohashi
Published: (2021-11-01)

Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage
by: Mengying Wang, et al.
Published: (2024-06-01)

Penerapan Metode ROC dan MAIRCA Dalam Pemilihan Web Hosting VPS Cloud
by: Brian Ardianto, et al.
Published: (2024-09-01)

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa
by: Yifan Wang, et al.
Published: (2025-08-01)

Neuroacanthocytosis: A Case Report
by: Mustafa Yılmaz, et al.
Published: (2006-02-01)

VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
by: Kishin Koh, et al.
Published: (2020-03-01)

Circ-VPS13C enhances cisplatin resistance in ovarian cancer via modulating miR-106b-5p/YWHAZ axis
by: Hairong Yao, et al.
Published: (2021-03-01)

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis
by: Hao Yu, et al.
Published: (2024-09-01)

The role of Vps4 in cancer development
by: Li Juan Huang, et al.
Published: (2023-06-01)

A Case of Neuroacanthocytosis with Cerebellar Syndrome
by: Filiz Azman, et al.
Published: (2015-09-01)

<i>CsNWD</i> Encoding VPS62 Emerges as a Candidate Gene Conferring the Glabrous Phenotype in Cucumber
by: Yuelong Zhou, et al.
Published: (2024-09-01)

Contrasting Retromer with a Newly Described Retriever in <i>Arabidopsis thaliana</i>
by: Connor D. Lewis, et al.
Published: (2024-09-01)

Ubiquitination status does not affect Vps34 degradation
by: Jing Tang, et al.
Published: (2020-09-01)

Semantic VPS for Smartphone Localization in Challenging Urban Environments
by: Max Jwo Lem Lee, et al.
Published: (2021-09-01)

Propofol suppresses cell viability, cell cycle progression and motility and induces cell apoptosis of ovarian cancer cells through suppressing MEK/ERK signaling via targeting circVPS13C/miR-145 axis
by: Huan Lu, et al.
Published: (2021-02-01)

Early Endosomal Vps34-Derived Phosphatidylinositol-3-Phosphate Is Indispensable for the Biogenesis of the Endosomal Recycling Compartment
by: Marina Marcelić, et al.
Published: (2022-03-01)