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Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia
ZHU Xiao-Ming, GONG Yu-Hong, LU Si, CHENG Shou-Chao, YAO Bao-Zhen
Chinese Journal of Contemporary Pediatrics ›› 2017, Vol. 19 ›› Issue (11) : 1169-1173.
PDF(1194 KB)
PDF(1194 KB)
Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia
The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were conscious and had abnormal posture of unilateral or bilateral extremities, athetosis, facial muscle twitching, and abnormal body posture. The frequency of onset ranged from 3-5 times a month to 2-7 times a day, with a duration of < 30 seconds every time. Electroencephalography showed no abnormality in these patients. Three patients had a family history of similar disease. The high-throughput sequencing results showed that a heterozygous mutation in the PRRT2 gene, c.649_650insC (p.R217PfsX8), was found in two patients; the mutation c.436C > T (p.P146S) was found in one patient; a splice site mutation, IVS2-1G > A, was found in one patient. The two mutations c.436C > T and IVS2-1G > A had not been reported previously. The chromosome microarray analysis was performed in one patient with negative results of gene detection, and the chromosome 16p11.2 deletion (0.55 Mb) was observed. Low-dose carbamazepine was effective for treatment of the 5 patients. PKD is a rare neurological disease. The detection of the PRRT2 gene by multiple genetic analysis can help the early diagnosis of PKD.
Paroxysmal kinesigenic dyskinesia / Clinical feature / PRRT2 gene / Gene detection / Child
[1] Huang XJ, Wang T, Wang JL, et al. Paroxysmal kinesigenic dyskinesia:Clinical and genetic analyses of 110 patients[J]. Neurology, 2015, 85(18):1546-1553.
[2] 杨小玲, 张月华, 许小菁, 等. 阵发性运动诱发的运动障碍临床特点和PRRT2基因突变研究[J]. 中华儿科杂志, 2015, 53(8):621-625.
[3] Lamperti C, Invernizzi F, Solazzi R, et al. Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients[J]. Eur J Paediatr Neurol, 2016, 20(1):152-157.
[4] Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia[J]. Nat Genet, 2011, 43(12):1252-1255.
[5] Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia:new diagnostic criteria[J]. Neurology, 2004, 63(12):2280-2287.
[6] Demirkiran M, Jankovic J. Paroxysmal dyskinesias:clinical features and classification[J]. Ann Neurol, 1995, 38(4):571-579.
[7] 张卉, 时伟丽, 肖海, 等. 一个发作性运动诱发性肌张力障碍家系的PRRT2基因突变研究[J]. 中华医学遗传学杂志, 2016, 33(1):61-63.
[8] van Vliet R, Breedveld G, de Rijk-van Andel J, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions[J]. Neurology, 2012, 79(8):777-784.
[9] Liu YT, Nian FS, Chou WJ, et al. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects[J]. Oncotarget, 2016, 7(26):39184-39196.
[10] Méneret A, Gaudebout C, Riant F, et al. PRRT2 mutation and paroxysmal disorder[J]. Eur J Neurol, 2013, 20(6):872-878.
[11] Jarvis SE, Zamponi GW. Masters or slaves? Vesicle release machinery and the regulation of presynaptic calcium channels[J]. Cell Calcium, 2005, 37(5):483-488.
[12] Li HF, Chen WJ, Ni W, et al. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response[J]. Neurology, 2013, 80(16):1534-1535.
[13] Charlesworth G, Bhatia KP. Primary and secondary dystonic syndromes:an update[J]. Curr Opin Neurol, 2013, 26(4):406-412.
[14] Gardiner AR, Jaffer F, Dale RC, et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias[J]. Brain, 2015, 138(Pt 12):3567-3580.
[15] Schubert J, Paravidino R, Becker F, et al. PRRT2 mutations are the major cause of benign familial infantile seizures[J]. Hum Mutat, 2012, 33(10):1439-1443.
