Recent advances in genetics and functional imaging of paroxysmal kinesigenic dyskinesia

VernacularTitle:发作性运动诱发性肌张力障碍的遗传学和功能影像学研究进展
Author: Ke XU ¹ ; Xu ZHAO ; Lili LAN ; Shanshan HUANG ; Suiqiang ZHU
Author Information

1. 华中科技大学同济医学院附属同济医院神经内科，武汉　430030
Keywords: Dyskinesia; Genetics; Functional imaging; PRRT2
From: Chinese Journal of Neuromedicine 2021;20(2):206-211
CountryChina
Language:Chinese
Abstract: Paroxysmal kinesigenic dyskinesia (PKD) is a rare type of paroxysmal dyskinesia with a population estimated incidence of 1/150, 000. PKD is likely correlated with genetics. Genetic studies have shown that, in addition to PRRT2 gene, mutations in SCN8A, KCNA1, CHRNA4, DEPDC5, PNKD, SLC2A1, KCNMA1, ADCY5 and other genes could also lead to PKD phenotypes. Functional imaging studies have found that PKD patients have subtle structural or functional abnormalities in the cortex, basal ganglia and thalamus. This paper reviews the recent advances in genetics and functional imaging of PKD, aiming at helping us to further understand the underlying pathophysiological mechanisms of PKD.