Yi Fang, Li Wenwen, Xie Nina, Zhou Yafang, Xu Hongwei, Sun Qiying, Zhou Lin
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
Front Neurol. 2018 Jul 24;9:594. doi: 10.3389/fneur.2018.00594. eCollection 2018.
Chorea-acanthocytosis (ChAc) is a rare neurodegenerative movement disorder with variable clinical features, including movement disorders, cognitive decline, myopathy, neuropathy, behavioral changes, seizures and acanthocytosis. The majority of ChAc patients display an autosomal recessive mode of inheritance. A pseudodominant way of transmission represents only a rare condition. Few studies have reported the clinical status of the obligate carriers of ChAc. Here, we describe a Chinese ChAc family with a novel mutation in the gene, presenting a pseudo-dominant inheritance mode. Our report further expanded the knowledge of phenotypes of ChAc.
舞蹈病-棘红细胞增多症（ChAc）是一种罕见的神经退行性运动障碍，具有多种临床特征，包括运动障碍、认知衰退、肌病、神经病变、行为改变、癫痫发作和棘红细胞增多症。大多数ChAc患者表现为常染色体隐性遗传模式。假显性遗传方式仅为罕见情况。很少有研究报道ChAc obligate携带者的临床状况。在此，我们描述了一个在中国的ChAc家系，该家系基因存在一个新的突变，呈现假显性遗传模式。我们的报告进一步扩展了对ChAc表型的认识。
