Chinese Medical Sciences Journal ›› 2018, Vol. 33 ›› Issue (1): 53-59.doi: 10.24920/21802

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Progress in the Diagnosis and Management of Chorea-acanthocytosis

Liu Yang1, Liu Ziyuan1, Wan Xinhua2, Guo Yi1, *()   

  1. 1 Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
    2 Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
  • Received:2017-07-31 Online:2018-02-13 Published:2018-02-13
  • Contact: Guo Yi E-mail:guoyi@pumch.cn

Abstract:

Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase and atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc. Botulinum toxin injection is a possible treatment for the typical orofacial dystonia. Deep brain stimulation is a novel surgical treatment modality. Most cases chose globus pallidus internus as target. Patients with dystonia as a major manifestation will benefit more from high-frequency stimulation and those with major findings of chorea and dysarthria are suitable for low-frequency stimulation. More evidence of long-term outcomes is warranted.

Key words: Chorea-acanthocytosis, movement disorders, deep brain stimulation, globus pallidus internus

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