Section of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center, Taiwan.
J Neurol Sci. 2012 Dec 15;323(1-2):80-4. doi: 10.1016/j.jns.2012.08.015. Epub 2012 Sep 8.
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The present study characterized the clinical and genetic findings of a Taiwanese PNKD family. The clinical features of our five patients in successive three generations included onset age less than 10 years, attack duration between 3 min and 4h, and a variety of aura symptoms. The attacks were provoked not by sudden action but by emotional stress, caffeine, fatigue, heavy exercise and sleep deprivation. Sleep could abolish or diminish the attack and the attacks responded well to clonazepam. Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. Comparing our patients with previously reported 18 families with PNKD/MR-1 mutations, the majority of the patients exhibited quite similar manifestations in attack patterns and precipitating factors. The recurrent conservative mutations in different ethnicities indicate importance in the pathogenesis of PNKD.
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的罕见疾病。PNKD 的临床特征和遗传发现，在亚洲人身上很少被描述，大多是从欧洲家族中描绘出来的。本研究描述了一个台湾 PNKD 家族的临床和遗传发现。我们三代中的五名患者的临床特征包括发病年龄小于 10 岁，发作持续时间为 3 分钟至 4 小时，以及各种先兆症状。发作不是由突然的动作引起的，而是由情绪压力、咖啡因、疲劳、剧烈运动和睡眠不足引起的。睡眠可以消除或减轻发作，发作对氯硝西泮反应良好。对 PNKD/MR-1 基因的整个编码区进行测序，发现了一个杂合的 c.20 C>T（p.Ala7Val）突变，该突变在五名受影响的患者中明显分离。将我们的患者与先前报道的 18 个具有 PNKD/MR-1 突变的家族进行比较，大多数患者在发作模式和诱发因素方面表现出非常相似的表现。不同种族中反复出现的保守突变表明其在 PNKD 的发病机制中具有重要意义。
