Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

@inproceedings{Shen2017NovelVG,
  title={Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review},
  author={Yan Shen and Xiaoming Liu and Xi Dai Long and Chao Han and Fang Jung Wan and Wenliang Fan and Xingfang Guo and Kai Ma and Shiyi Guo and Luxi Wang and Yun Qiang Xia and Ling Liu and Jinsha Huang and Zhicheng Lin and Nian Xiong and Tao Wang},
  booktitle={Front. Aging Neurosci.},
  year={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 (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… CONTINUE READING
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