Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease

Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease

VPS13A disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes, characterized by neurodegeneration in the central nervous system and acanthocytosis in peripheral blood. It is a rare autosomal recessive genetic disorder caused by loss-...

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Bibliographic Details
Main Authors: Jingqi Lin, Hongmei Meng, Nilupaer Shafeng, Jiaai Li, Huaiyu Sun, Xi Yang, Zhiqing Chen, Shuai Hou
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Neurology
Subjects:
chorea-acanthocytosis
neuroacanthocytosis
VPS13A disease
VPS13A
chorein
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1482936/full
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