Zhang Yu, Li Lin, Chen Wei, Gan Jing, Liu Zhen Guo
Department of Neurology, Xin Hua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Department of Neurology, Xin Hua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Clin Neurol Neurosurg. 2017 Aug;159:25-28. doi: 10.1016/j.clineuro.2017.05.004. Epub 2017 May 8.
As a rare type of movement disorder, paroxysmal kinesigenic dyskinesia mainly affects children and is associated with PRRT2 gene mutation. The objective of our study is to identify whether the sporadic patients share the same genotype-phenotype correlations as familial patients in China.
We investigated the clinical characteristics and PRRT2 gene mutations of 15 sporadic patients with paroxysmal kinesigenic dyskinesia in china. The clinical and investigational data of our patients was recorded and analyzed meticulously.
We have summarized the clinical characteristics and PRRT2 gene mutation of Chinese sporadic patients with paroxysmal kinesigenic dyskinesia. Male patients have a high incidence of paroxysmal kinesigenic dyskinesia. The age of onset is between 6 and 16 years (average 10.27±3.43 years; median 10 years) and the course of disease is between 0.3 and 14 years (average 5.95±4.55years; median 6 years). The attack usually begins in childhood or adolescence and diminishing with age. Paroxysmal dystonia on the limbs is the predominant clinical manifestation of our patients. Tremor on two hands might be a common combined symptom. Carbamazepine is an effective drug for our patients. Two variants PRRT2c.412C>G, PRRT2c.439G>C and one mutation PRRT2 c.649dupC was identified in our patients.
Genotype-phenotype correlations in sporadic patients with paroxysmal kinesigenic dyskinesia remain unclear in China. Further studies involving larger patients on the clinical characteristics should be carry out. Carbamazepine is the first-choice drug and PRRT2 c.649dupC mutation is a hot-spot mutation in Chinese sporadic patients with paroxysmal kinesigenic dyskinesia.
阵发性运动诱发性运动障碍作为一种罕见的运动障碍类型，主要影响儿童，且与PRRT2基因突变相关。本研究的目的是确定中国散发型患者是否与家族型患者具有相同的基因型-表型相关性。
我们调查了15例中国散发型阵发性运动诱发性运动障碍患者的临床特征及PRRT2基因突变情况。对患者的临床及研究数据进行了详细记录和分析。
我们总结了中国散发型阵发性运动诱发性运动障碍患者的临床特征及PRRT2基因突变情况。男性患者阵发性运动诱发性运动障碍的发病率较高。发病年龄在6至16岁之间（平均10.27±3.43岁；中位数10岁），病程在0.3至14年之间（平均5.95±4.55年；中位数6年）。发作通常始于儿童期或青春期，并随年龄增长而减轻。肢体阵发性肌张力障碍是我们患者的主要临床表现。双手震颤可能是常见的合并症状。卡马西平对我们的患者是一种有效药物。在我们的患者中鉴定出两个变异体PRRT2 c.412C>G、PRRT2 c.43G>C和一个突变体PRRT2 c.649dupC。
在中国，散发型阵发性运动诱发性运动障碍患者的基因型-表型相关性仍不明确。应开展涉及更多患者的临床特征进一步研究。卡马西平是首选药物，PRRT2 c.（此处原文可能有误，应为c.649dupC）突变是中国散发型阵发性运动诱发性运动障碍患者中的热点突变。
