舞蹈症-棘红细胞增多症的诊疗进展

doi:10.24920/21802

摘要/Abstract

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。

关键词: 舞蹈症-棘红细胞增多症, 运动障碍, 脑深部电刺激, 苍白球内侧部

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

Liu Yang,Liu Ziyuan,Wan Xinhua,Guo Yi. Progress in the Diagnosis and Management of Chorea-acanthocytosis[J].Chinese Medical Sciences Journal, 2018, 33(1): 53-59.

图/表 1

Table 1

Cases reporting deep brain stimulation in treating chorea-acanthocytosis"

References	Number of cases (n)	Acanthocyte count	MRI	VPS13 mutation	Disease course (yrs)	Frequency of stimulation	Functional outcomes
Fernandez- Pajorin et al^[42]	1	7%	Asymmetric lateral ventricles	(+)	13	low (60 Hz)	UHDRS (motor) [preop. 39 to 13 (1 year postop.)]
Lee et al^[43]	1	21%	Bilateral atrophy of caudate nuclei and putamen	(+)	3	high (130 Hz)	UHDRS (motor) [preop. 59 to 36 (2 months postop.) and to 34 (1 year postop.)]
Lim et al^[44],b	1	↑	Asymmetric atrophy of caudate nuclei and putamen	N/A	6	low (60 Hz)	AIMS [preop. 20 to 12 (2 months postop.) and to 10 (8 months postop.)]
Miquel et al^[34],a	3	↑	2 with caudate nuclei atrophy, 1 with normal MRI	1 case (+), 2 cases N/A	6-7	high (140-185 Hz)	UHDRS (motor) (a mean improvement of 50% from 1 to 5 months postop. and 40% improvement for >6 months postop.)
Kefalopoulou et al^{[45], c}	2	↑	Caudate nuclei atrophy	N/A	N/A	high (130 Hz)	UHDRS (motor) (case 1 from 40 to 23, case 2 from 74 to 50), (chorea sub-score: case 1 from 8 to 1, case 2 from 24 to 8)
Shin et al^[46]	1	20%	Bilateral atrophy of caudate nuclei and putamen	(+)	4	high (130 Hz)	UHDRS (motor) [preop. 44 to 13 (2 months postop.)]
Li et al^{[47], b}	2	6%	Bilateral caudate nuclei atrophy	N/A	12	low (60 Hz)	UHDRS (motor) (case 1 from 36 to 13, case 2 from 53 to 26)
Ruiz et al^{[48], b}	1	20%	Bilateral dilation of lateral ventricles and atrophy of caudate nuclei	N/A	11	high (130 Hz)	UHDRS (motor) [preop. 24 to 14 (2 months postop.)]
Wihl et al^{[49], d}	1	25%	Bilateral dilation of lateral ventricles and atrophy of caudate nuclei	N/A	3	low (10-50 Hz) & high (130-1000 Hz)	No improvements
Guehl et al^[50]	1	10%	N/A	(+)	8	low (40 Hz) & high (130 Hz)	UHDRS (motor) [preop. 13.5 to 9.5 (low frequency) and 18 (high frequency) postop.]
Burbaud et al^[51]	1	↑	Bilateral atrophy of caudate nuclei and putamen	(+)	12	high (160 Hz)	MSCRS [preop. 54 to 34 (3 months postop.)]

Table 1

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