Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families
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.
Authors
- Bin Xiao (ORCID: https://orcid.org/0000-0003-2986-4980)
- Chen Ru-kai (ORCID: https://orcid.org/0009-0001-0674-1032)
- Jiaying Chen
- Naiqing Cai (ORCID: https://orcid.org/0000-0002-5501-2565)
- Lingping Zhan
- Chunyan Cao (ORCID: https://orcid.org/0000-0002-3685-5700)
- Xiao-Hong Lin
Institutions
- Fujian Medical University (CN)
- Zhengzhou University (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
- Henan Provincial People's Hospital (CN)
- Union Hospital (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-08-22
- DOI
- https://doi.org/10.3389/fneur.2025.1643889
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 0.00