Progress in the Diagnosis and Management of Chorea-acanthocytosis  

舞蹈症-棘红细胞增多症的诊疗进展（英文）

作　　者：刘洋[1] 刘子源[1] 万新华[2] 郭毅[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院神经外科 [2]中国医学科学院北京协和医学院北京协和医院神经内科

出　　处：《Chinese Medical Sciences Journal》2018年第1期53-59,共7页中国医学科学杂志（英文版）

摘　　要：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.Chorea-acanthocytosis(Ch Ac) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13 A mutations. Characteristic movement disorders in Ch Ac 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 Ch Ac. 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.

关 键 词：CHOREA-ACANTHOCYTOSIS MOVEMENT DISORDERS deep BRAIN STIMULATION GLOBUS pallidus internus 

分 类 号：R[医药卫生]