AUTHOR=Yi Fang , Li Wenwen , Xie Nina , Zhou Yafang , Xu Hongwei , Sun Qiying , Zhou Lin TITLE=Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode JOURNAL=Frontiers in Neurology VOLUME=9 YEAR=2018 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2018.00594 DOI=10.3389/fneur.2018.00594 ISSN=1664-2295 ABSTRACT=

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 VPS13A gene, presenting a pseudo-dominant inheritance mode. Our report further expanded the knowledge of phenotypes of ChAc.