Kim Soo Yeon, Lee Jin Sook, Kim Woo Joong, Kim Hyuna, Choi Sun Ah, Lim Byung Chan, Kim Ki Joong, Chae Jong Hee
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Department of Pediatrics, Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
J Clin Neurol. 2018 Oct;14(4):492-497. doi: 10.3988/jcn.2018.14.4.492. Epub 2018 Jul 12.
Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children.
Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced , , and in these patients and reviewed their medical records.
Forty patients were categorized as PKD, 14 as PNKD, and 1 as PED. Thirty-eight (69.1%) patients were male, and their age at onset was 8.80±4.53 years (mean±SD). Dystonia was the most common symptom (38 patients, 69.1%). Pathogenic variants were identified in 20 patients (36.4%): 18 with and 2 with . All of the patients with mutations presented with PKD alone. The 2 patients carrying mutations presented as and PED, and one of them was treated effectively with a ketogenic diet. Six mutations in (including 2 novel variants) were identified in 9 of the 13 tested families (69.2%) and in 8 patients of the 25 tested sporadic cases (32.0%). There were no significant differences in clinical features or drug response between the -positive and -negative PKD groups.
This study has summarized the clinical and genetic heterogeneity of paroxysmal dyskinesia in children. We suggest that pediatric paroxysmal dyskinesia should not be diagnosed using clinical features alone, but by combining them with broader genetic testing.
阵发性运动障碍是一种在遗传和临床方面具有异质性的运动障碍。近期研究表明，它在表型和基因型上与其他阵发性疾病存在重叠，且具有临床异质性。我们对儿童阵发性运动障碍的临床和遗传特征进行了研究。
纳入55例患者（14个家庭的16例及39例散发病例）。我们将他们分为三种表型：阵发性运动诱发性运动障碍（PKD）、阵发性非运动诱发性运动障碍（PNKD）和阵发性运动诱发的运动障碍（PED）。我们对这些患者的 、 和 进行了测序，并查阅了他们的病历。
40例患者被归类为PKD，14例为PNKD，1例为PED。38例（69.1%）患者为男性，发病年龄为8.80±4.53岁（均值±标准差）。肌张力障碍是最常见的症状（38例患者，69.1%）。在20例患者（36.4%）中鉴定出致病变异：18例为 ，2例为 。所有携带 突变的患者仅表现为PKD。2例携带 突变的患者表现为 和PED，其中1例通过生酮饮食治疗有效。在13个检测家庭中的9个（69.2%）以及25个检测散发病例中的8例（32.0%）中鉴定出 中的6个突变（包括2个新变异）。PKD组中 阳性和阴性组在临床特征或药物反应方面无显著差异。
本研究总结了儿童阵发性运动障碍的临床和遗传异质性。我们建议，儿童阵发性运动障碍不应仅根据临床特征进行诊断，而应结合更广泛的基因检测。
