阵发性非运动性舞蹈手足徐动症归因于 PNKD 重复突变：两个南欧家族的报告。
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.
机构信息
First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Greece.
出版信息
Eur J Paediatr Neurol. 2012 Jan;16(1):86-9. doi: 10.1016/j.ejpn.2011.09.008. Epub 2011 Oct 1.
Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent mutation. Incomplete penetrance and intrafamilial variability was detected in both families. Treatment with valproic acid and levetiracetam provided favorable response.
发作性非运动诱发性运动障碍（PNKD）是一种常染色体显性遗传病，其特征是由应激、疲劳、咖啡、酒精或月经引发的肌张力障碍或舞蹈手足徐动症发作。本报告介绍了两个具有南欧血统的 PNKD 家族，这些家族携带 PNKD 复发性突变。在两个家族中均检测到不完全外显率和家族内变异性。丙戊酸和左乙拉西坦治疗有良好的反应。
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