Lin Jingqi, Meng Hongmei, Shafeng Nilupaer, Li Jiaai, Sun Huaiyu, Yang Xi, Chen Zhiqing, Hou Shuai
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.
Front Neurol. 2024 Nov 26;15:1482936. doi: 10.3389/fneur.2024.1482936. eCollection 2024.
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-of-function variants in the VPS13A gene, which is currently the only known pathogenic gene for ChAc. VPS13A protein is a member of novel bridge-like lipid transfer proteins family located at membrane contact sites, forming direct channels for lipid transport. The specific mechanism underlying how the loss of VPS13A function leads to the hematological and neurological phenotypes of the disease remains unclear. Here we present a review of recent studies on VPS13A protein and ChAc, focusing on the potential role of the VPS13A protein in pathophysiology of ChAc and also review the known and potential wet biomarkers of ChAc to enhance our comprehension of this rare disease.
舞蹈病（也称为舞蹈病 - 棘红细胞增多症，ChAc）是神经棘红细胞增多症（NA）综合征的一种代表性亚型，其特征是中枢神经系统神经退行性变和外周血棘红细胞增多。它是一种罕见的常染色体隐性遗传疾病，由VPS13A基因功能丧失变异引起，该基因是目前已知的ChAc唯一致病基因。VPS13A蛋白是位于膜接触位点的新型桥状脂质转运蛋白家族的成员，形成脂质转运的直接通道。VPS13A功能丧失如何导致该疾病的血液学和神经学表型的具体机制仍不清楚。在此，我们对VPS13A蛋白和ChAc的最新研究进行综述，重点关注VPS13A蛋白在ChAc病理生理学中的潜在作用，并回顾ChAc已知和潜在的生物标志物，以增强我们对这种罕见疾病的理解。
