Stefanova Elka, Djarmati Ana, Momcilović Dragana, Dragasević Natasa, Svetel Marina, Klein Christine, Kostić Vladimir S
Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro.
Mov Disord. 2006 Nov;21(11):2010-5. doi: 10.1002/mds.21095.
The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR-1), which causes an alanine-to-valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age-dependent incremental-decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120-180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe ( approximately 15-30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR-1 mutations are associated with PNKD worldwide, which will affect genetic testing.
本研究的目的是描述一个患有阵发性非运动诱发性运动障碍（PNKD）的大型塞尔维亚家族的临床特征，以及肌纤生成调节因子1基因（MR-1）中先前描述的两种突变之一，该突变导致第9位氨基酸由丙氨酸替换为缬氨酸。在12名受影响的家族成员中，有5名接受检查的个体在生命的前6个月出现运动障碍发作。发作的频率和严重程度均呈现出年龄依赖性的增减模式，在13至15岁之间达到峰值。发作常由压力、咖啡因、发热、饥饿、疲劳以及温度的突然变化诱发。我们的三名患者区分出两种发作类型：轻度发作（120 - 180分钟），主要表现为功能上无明显影响的舞蹈手足徐动样运动；重度发作（约15 - 30分钟），其特征为四肢、躯干和面部出现致残性的肌张力障碍和舞蹈样运动。睡眠是终止发作最可靠的因素。这个塞尔维亚家族进一步证明，MR-1基因的反复突变在全球范围内都与PNKD相关，这将影响基因检测。
