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[家族性阵发性舞蹈手足徐动症。一个家族中的2例报告]

[Familial paroxysmal choreoathetosis. Report of 2 cases in one family].

作者信息

Zukerman E, Vilanova L C, Seráfico J

出版信息

Arq Neuropsiquiatr. 1983 Dec;41(4):373-6. doi: 10.1590/s0004-282x1983000400007.

DOI:10.1590/s0004-282x1983000400007
PMID:6661101
Abstract

The authors present two cases of a very rare condition known as familial paroxysmal choreoathetosis. The patients, mother and daughter, were 28 and 8 years old and the disease started when they were 6 and 2 year-old, respectively. The paroxystic involuntary movements were generalized, producing speech and gait disturbances, without any impairment of consciousness. The duration of the episodes lasted 30 to 180 minutes. The paroxysmals occasionally could be triggered by physical stress or alcohol intake. The neurological examination and the electroencephalogram during free intervals were normal. Searching the available literature these two cases could be classified as belonging to the same form described by Mount and Reback, in 1940.

摘要

作者报告了两例极为罕见的疾病,即家族性阵发性舞蹈手足徐动症。患者为母女,分别为28岁和8岁,该病分别于她们6岁和2岁时起病。阵发性不自主运动为全身性,导致言语和步态障碍,意识无任何受损。发作持续时间为30至180分钟。阵发性发作偶尔可由身体应激或饮酒诱发。间歇期的神经学检查和脑电图均正常。查阅现有文献,这两例可归类为1940年Mount和Reback所描述的同一类型。

相似文献

1
[Familial paroxysmal choreoathetosis. Report of 2 cases in one family].[家族性阵发性舞蹈手足徐动症。一个家族中的2例报告]
Arq Neuropsiquiatr. 1983 Dec;41(4):373-6. doi: 10.1590/s0004-282x1983000400007.
2
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes.家族性阵发性肌张力障碍性舞蹈手足徐动症及其与相关综合征的鉴别
Ann Neurol. 1977 Oct;2(4):285-93. doi: 10.1002/ana.410020405.
3
Therapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type.运动诱发性阵发性舞蹈手足徐动症及蒙特和雷巴克型家族性阵发性舞蹈手足徐动症的治疗方面
J Neurol. 1983;230(3):163-9. doi: 10.1007/BF00313627.
4
Paroxysmal kinesigenic choreoathetosis.阵发性运动诱发性舞蹈手足徐动症
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Familial paroxysmal dystonic choreoathetosis of Mount and Reback and its differentiation from related syndromes.蒙特和雷巴克家族性阵发性肌张力障碍性舞蹈手足徐动症及其与相关综合征的鉴别
Trans Am Neurol Assoc. 1977;102:46-8.
6
Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis.
Neurology. 1997 Nov;49(5):1252-7. doi: 10.1212/wnl.49.5.1252.
7
Paroxysmal dystonic choreoathetosis of Mount and Reback.蒙特和雷巴克阵发性肌张力障碍性舞蹈手足徐动症
Pediatrics. 1980 Jan;65(1):149-51.
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[Paroxysmal kinesigenic choreoathetosis: autonomic disease or reflex epilepsy?].
Rev Neurol (Paris). 1990;146(1):25-9.
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Ten year follow-up of paroxysmal choreoathetosis: a sporadic case becomes familial.阵发性舞蹈手足徐动症的十年随访:一个散发病例转变为家族性病例。
Epilepsia. 1978 Apr;19(2):129-32. doi: 10.1111/j.1528-1157.1978.tb05022.x.
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Familial paroxysmal kinesigenic choreoathetosis. Report of a pharmacological trial in 2 cases.家族性阵发性运动诱发性舞蹈手足徐动症。2例药物试验报告。
Eur Neurol. 1983;22(3):217-21. doi: 10.1159/000115562.