Shen Yan, Liu Xiaoming, Long Xi, Han Chao, Wan Fang, Fan Wenliang, Guo Xingfang, Ma Kai, Guo Shiyi, Wang Luxi, Xia Yun, Liu Ling, Huang Jinsha, Lin Zhicheng, Xiong Nian, Wang Tao
Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan, China.
Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan, China.
Front Aging Neurosci. 2017 Apr 12;9:95. doi: 10.3389/fnagi.2017.00095. eCollection 2017.
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 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 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.
舞蹈病-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，其特征为运动亢进、癫痫发作、认知障碍、神经精神症状、血清生化指标升高以及外周血涂片检测到棘红细胞。液泡蛋白分选13A基因突变已被证实是ChAc发病机制的遗传原因。在此，基于典型的临床症状和神经影像学特征，我们报告了两例疑似ChAc病例，通过四个新的基因突变进一步得到遗传学证实。然而，中国的人口基数与已发表的ChAc报告之间存在鲜明对比，这意味着ChAc在中国的诊断率相当低。因此，我们总结了几个提示性特征，并从临床、遗传学和神经影像学角度提出了ChAc的诊断路径，旨在促进中国ChAc的诊断和管理。
