Wang Kang, Zhao Xiaoyu, Du Yue, He Fangping, Peng Guoping, Luo Benyan
Department of Neurology, The First Affiliated Hospital, School of Medicine, Zhejiang University, China.
Brain Dev. 2013 Aug;35(7):664-6. doi: 10.1016/j.braindev.2012.07.018. Epub 2012 Aug 16.
Paroxysmal dyskinesia (PD) is a group of rare neurological conditions which was divided into paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD) and paroxysmal exercise-induced dyskinesia (PED) according to their clinical features. PRRT2 gene was initially identified as the major gene responsible for PKD followed by presence of various PRRT2 mutations discovered in families with benign familial infantile convulsions (BFIC) and infantile convulsions and choreoathetosis (ICCA). We describe a family with characteristic PD showing overlaps in clinical pictures among the three PD subgroups, and a nonsense PRRT2 mutation c.649C>T (p.Arg217X) was also detected. This broadens the phenotypic spectrum in PRRT2-related disorders. In addition, an unusual exercise trigger observed in the proband, likely representing an underestimated occurrence, together with the current clinical PD classification is also elucidated.
发作性运动障碍（PD）是一组罕见的神经系统疾病，根据其临床特征可分为发作性运动诱发性运动障碍（PKD）、发作性非运动诱发性运动障碍（PNKD）和发作性运动诱发的运动障碍（PED）。PRRT2基因最初被确定为PKD的主要致病基因，随后在患有良性家族性婴儿惊厥（BFIC）和婴儿惊厥合并舞蹈手足徐动症（ICCA）的家庭中发现了各种PRRT2突变。我们描述了一个具有特征性PD的家系，该家系在三个PD亚组的临床症状上存在重叠，并且还检测到一个无义PRRT2突变c.649C>T（p.Arg217X）。这拓宽了PRRT2相关疾病的表型谱。此外，还阐明了先证者中观察到的一种不寻常的运动触发因素，这可能是一种被低估的现象，以及当前的临床PD分类。
