Title |
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
|
---|---|
Published in |
Frontiers in Neurology, July 2018
|
DOI | 10.3389/fneur.2018.00594 |
Pubmed ID | |
Authors |
Fang Yi, Wenwen Li, Nina Xie, Yafang Zhou, Hongwei Xu, Qiying Sun, Lin Zhou |
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. |
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