BRIEF RESEARCH REPORT article
Front. Neurol.
Sec. Neurogenetics
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1643889
This article is part of the Research TopicPsychiatric Comorbidities of Neurogenetic and Neurodegenerative DiseasesView all articles
Novel Loss-of-function Mutations in VPS13A Cause Choreaacanthocytosis in Two Families
Provisionally accepted
- 1The First Affiliated Hospital of Fujian Medical University, Fuzhou, China
- 2First Affiliated Hospital of Fujian Medical University Department of Neurology, Fuzhou, China
- 3Fujian Medical University Union Hospital, Fuzhou, China
- 4Henan Provincial People's Hospital, Zhengzhou, China
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Introduction: Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis( NA)caused by mutations in VPS13A (vacuole protein sorting-associated protein 13A). ChAC is characterized by the presence of spherocytes and neurological symptoms. This article reports two families with ChAc and summarizes some suggestive characteristics, providing an effective basis for clinicians to screen ChAc in the early stage and effectively reduce the misdiagnosis and missed diagnosis of this disease.Methods: We first performed whole-exome sequencing (WES) and confirmed three NA cases in two families. Detailed clinical and peripheral blood smear analyses are presented, supplemented by molecular electron microscopy to assess erythrocyte ultrastructure. To further evaluate the functional impact of candidate variants, we additionally performed RNA splicing analysis.Results: Three ChAc cases in two families were identified. Clinically, almost all cases presented initial movement disorders, and Elevated creatine kinase (CK) level. Besides, both peripheral blood smear and scanning electron microscopy revealed characteristic acanthocytes.Conclusions: This study provides key clinical indicators for early ChAc screening: early movement disorders combined with persistently elevated CK levels and significant acanthocytosis on peripheral blood smear. We further identified three novel VPS13A mutations, expanding the variant spectrum and confirming clinical heterogeneity in ChAc.
Keywords: Chorea-acanthocytosis, Gene mutations, VPS13A, Neurology, Whole-exome sequencing
Received: 09 Jun 2025; Accepted: 28 Jul 2025.
Copyright: © 2025 Lin, Xiao, Chen, Chen, Cai, Cao and Zhan. 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:
Chun-Yan Cao, Henan Provincial People's Hospital, Zhengzhou, China
Li-Qiong Zhan, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China
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