Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.
Dev Med Child Neurol. 2013 Apr;55(4):327-34. doi: 10.1111/dmcn.12056. Epub 2013 Jan 30.
To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group.
We report the detailed clinical and molecular genetic features of 11 patients (six females, five males) with childhood-onset PRRT2-mutation-positive PKD.
Mean age at disease onset was 8 years 7.5 months (range 5-11y), and clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. Most patients also had non-kinesigenic attacks in addition to the classical movement-induced paroxysmal episodes. One family demonstrated great phenotypic variability with PKD, infantile convulsions, and/or hemiplegic migraine affecting different family members with the same mutation. All patients in whom antiepileptics (carbamazepine/phenytoin) were tried showed a dramatic improvement with complete abolition of dyskinetic episodes.
Our case series provides a detailed clinical description of patients with PRRT2-PKD, and reports a spectrum of disease-causing mutations, thereby expanding both the clinical phenotype and mutation spectrum of disease.
更好地定义 PRRT2 基因突变所致家族性和散发性阵发性运动诱发性运动障碍（PKD）的表型和基因型，这些突变在儿科年龄段发病。
我们报告了 11 例（6 名女性，5 名男性）儿童期 PRRT2 基因突变阳性 PKD 患者的详细临床和分子遗传学特征。
疾病发病的平均年龄为 8 岁 7.5 个月（范围 5-11y），临床表现为每日短暂发作性肌张力障碍/运动障碍。大多数患者除了典型的运动诱发阵发性发作外，还有非运动诱发性发作。一个家族表现出很大的表型变异性，PKD、婴儿痉挛症和/或偏瘫性偏头痛影响同一突变的不同家庭成员。所有尝试使用抗癫痫药（卡马西平/苯妥英）的患者均表现出明显改善，运动障碍发作完全消除。
我们的病例系列提供了 PRRT2-PKD 患者的详细临床描述，并报告了一系列致病突变，从而扩大了疾病的临床表型和突变谱。
