Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.
Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.
复制标题
在诊断为舞蹈症棘红细胞增多症 (ChAc) 的患者中发现的新 VPS13A 基因突变：病例介绍和文献综述
DOI：
10.3389/fnagi.2017.00095
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发表时间：
2017
影响因子：
4.8
通讯作者：
Wang T
中科院分区：
文献类型：
--
作者：
Shen Y;Liu X;Long X;Han C;Wan F;Fan W;Guo X;Ma K;Guo S;Wang L;Xia Y;Liu L;Huang J;Lin Z;Xiong N;Wang T
舞蹈棘红细胞增多症（ChAc）是一种罕见的常染色体隐性遗传综合征，以多动运动、癫痫发作、认知功能障碍、神经精神症状、血清生化指标升高和外周血涂片棘红细胞检出为特征。已证明，VPS13A基因突变在遗传上负责ChAc的发病机制。在此，基于典型的临床症状和神经影像学特征，我们提出了两个疑似ChAc病例，进一步证实了四个新的VPS13A基因突变的遗传。然而，人群基础和已发表的ChAc报告之间的鲜明对比表明，ChAc在中国的诊断率相当低。因此，我们总结了几个提示性的特点，并提出了诊断路径的ChAc从临床，遗传学和神经影像学的角度来看，旨在促进ChAc在中国的诊断和管理。
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (VPS13A) gene mutations have been proven to be genetically responsible for the pathogenesis of ChAc. Herein, based on the typical clinical symptoms and neuroimaging features, we present two suspected ChAc cases which are further genetically confirmed by four novel VPS13A gene mutations. Nevertheless, the sharp contrast between the population base and published ChAc reports implies that ChAc is considerably underdiagnosed in China. Therefore, we conclude several suggestive features and propose a diagnostic path of ChAc from a clinical, genetic and neuroimaging perspective, aiming to facilitate the diagnosis and management of ChAc in China.