Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.
Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.
复制标题
与新型 POLG 变异相关的阵发性运动性运动障碍 A 例报告
DOI：
10.1097/md.0000000000024395
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发表时间：
2021-01-29
期刊：
影响因子：
1.6
通讯作者：
Shang X
中科院分区：
文献类型：
--
作者：
Zhou Y;Zhang J;Wang X;Peng Q;Shang X
阵发性运动性运动障碍(PKD)是一种罕见的神经系统疾病，其特征是由突然运动引起的反复运动障碍或编舞运动障碍。PRRT2的致病变异是导致PKD的主要原因。然而，只有大约一半的临床诊断的PKD患者有PRRT2突变，这表明可能与其他未发现的致病基因有关。与Polg变异体相关的PKD尚未见报道。一名14岁的男孩表现为2个月的由突然活动引发的非自愿肌张力障碍运动。在袭击期间，他是清醒的。神经系统检查、实验室检查、脑磁共振成像(MRI)、脑电(EEG)均正常。遗传分析显示了一种新的Polg变异(c.440G>；T，p.Ser147 Ile)，在该病例中被认为是一个可能的致病变异。患者被诊断为PKD。小剂量卡马西平口服治疗。在6个月的随访中，患者的症状完全缓解，没有任何运动障碍。我们的研究证实新的Polg变异体(c.440G>；T，p.Ser147 Ile)可能是PKD的致病变异体。
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT2 mutations, indicating that additional undiscovered causative genes could be implicated. PKD associated with POLG variant has not been reported. A 14-year-old boy presented with a 2-month history of involuntary dystonic movements triggered by sudden activities. He was conscious during the attacks. Neurological examination, laboratory tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) were all normal. Genetic analysis showed a novel variant of POLG (c.440G>T, p.Ser147Ile), which was considered to be a likely pathogenic variant in this case. The patient was diagnosed with PKD. Low dose carbamazepine was used orally for treatment. The patient achieved complete resolution of symptoms without any dyskinesia during the 6-month follow up. Our study identified the novel POLG variant (c.440G>T, p.Ser147Ile) to be a likely pathogenic variant in PKD.