Progress in the Diagnosis and Management of Chorea-acanthocytosis

Liu Yang; Liu Ziyuan; Wan Xinhua; Guo Yi

doi:10.24920/21802

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Progress in the Diagnosis and Management of Chorea-acanthocytosis

Chinese Medicine Science Journal Vol. 33, Issue 1, Pages: 53-59(2018)

REVIEW | Updated：2024-04-10

- Progress in the Diagnosis and Management of Chorea-acanthocytosis
- Affiliations：
  
  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
- Author bio：
- Funds：
- DOI：10.24920/21802
  CLC：
- Received：31 July 2017，
  
  Published Online：13 February 2018，
  
  Published：01 April 2018
- Accepted：
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Liu Yang, Liu Ziyuan, Wan Xinhua, et al. Progress in the Diagnosis and Management of Chorea-acanthocytosis[J]. Chinese medicine science journal, 2018, 33(1): 53-59.
DOI：

Liu Yang, Liu Ziyuan, Wan Xinhua, et al. Progress in the Diagnosis and Management of Chorea-acanthocytosis[J]. Chinese medicine science journal, 2018, 33(1): 53-59. DOI： 10.24920/21802.

摘要

舞蹈症-棘红细胞增多症属于神经棘红细胞增多症中最常见的亚型

由于VPS13A基因突变所致。典型的运动障碍为舞蹈症

可累及躯干及肢体

其中口面舌部运动异常具有诊断意义。外周血涂片见棘红细胞增多、血清肌酶升高、磁共振成像见尾状核头萎缩及侧脑室前角扩张均提示舞蹈症-棘红细胞增多症。肉毒素局部注射可缓解口面部运动障碍。脑深部电刺激为最新外科治疗手段

大部分案例报道以苍白球内侧部为靶点。高频刺激更适合于以肌张力障碍为主要表现的患者

而低频刺激更适合于以舞蹈症、构音障碍为主要表现的患者。目前长期的治疗效果尚需更多考证。

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.

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Keywords

references

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