Article
Clinical Neurology
Masato Murakami, Shiro Horisawa, Kenko Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Summary: This case demonstrates long-term suppression of bilateral PKDs after bilateral thalamotomy, leading to drug-free conditions.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Claudio M. de Gusmao, Lucas Garcia, Mohamad A. Mikati, Samantha Su, Laura Silveira-Moriyama
Summary: This review examines different types of paroxysmal movement disorders and their genetic etiologies related to epilepsy, emphasizing the importance of clinical phenotyping for diagnosis and genetic testing interpretation. It discusses insights on the pathophysiology of select disorders and shared treatment principles. The growing number of genes associated with movement disorders and epilepsy are likely to lead to more effective treatments in the future.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Zi-yi Li, Wo-tu Tian, Xiao-jun Huang, Li Cao
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by recurrent and transient episodes of involuntary movements, triggered by sudden voluntary movement. The disturbance of the basal ganglia-thalamo-cortical circuit is considered the cause, along with structural and functional abnormalities in the basal ganglia, thalamus, and cortex. Recent studies also highlight the role of the cerebellum in PKD. This literature review aims to provide an overview of the current research progress in understanding the neural circuits and pathogenesis of PKD. (c) 2023 International Parkinson and Movement Disorder Society.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Wo-Tu Tian, Fei-Xia Zhan, Zhen-Hua Liu, Zhe Liu, Qing Liu, Xia-Nan Guo, Zai-Wei Zhou, Shi-Ge Wang, Xiao-Rong Liu, Hong Jiang, Xun-Hua Li, Guo-Hua Zhao, Hai-Yan Li, Jian-Guang Tang, Guang-Hui Bi, Ping Zhong, Xiao-Meng Yin, Tao-Tao Liu, Rui-Long Ni, Hao-Ran Zheng, Xiao-Li Liu, Xiao-Hang Qian, Jing-Ying Wu, Yu-Wen Cao, Chao Zhang, Shi-Hua Liu, Ying-Ying Wu, Qun-Feng Wang, Ting Xu, Wen-Zhe Hou, Zi-Yi Li, Hui-Yi Ke, Ze-Yu Zhu, Lan Zheng, Tian Wang, Tian-Yi Rong, Li Wu, Yu Zhang, Kan Fang, Zhan-Hang Wang, Ya-Kun Zhang, Mei Zhang, Yu-Wu Zhao, Bei-Sha Tang, Xing-Hua Luan, Xiao-Jun Huang, Li Cao
Summary: Through whole-exome sequencing and case-control analysis, mutations in transmembrane protein 151 (TMEM151A) were found to be associated with Paroxysmal Kinesigenic Dyskinesia (PKD), expanding the genotypic spectrum of PKD. TMEM151A-related PKD is more common in sporadic cases and tends to present as a late-onset pure phenotype.
MOVEMENT DISORDERS
(2022)
Review
Neurosciences
Jiao-Jiao Xu, Hong-Fu Li, Zhi-Ying Wu
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is a common type of sudden movement disorder characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary movements. PKD is mainly caused by mutations in the PRRT2 or TMEM151A gene, and its exact pathophysiological mechanisms are still unclear. The role of the cerebrum, including the cortex and thalamus, needs further investigation in PKD.
NEUROSCIENCE BULLETIN
(2023)
Article
Oncology
Yulan Chen, Dianfu Chen, Shaoyun Zhao, Gonglu Liu, Hongfu Li, Zhi-Ying Wu
Summary: In this study, the penetrance of PRRT2 was estimated, with findings that Asian patients or carriers of truncated variants are more likely to develop PRRT2-related disorders. Penetrance was approximately three-quarters, which is meaningful for genetic counseling.
FRONTIERS OF MEDICINE
(2021)
Article
Clinical Neurology
Huan Wang, Pengcheng Huang, Min Zhu, Xin Fang, Chensi Wu, Daojun Hong
Summary: This study reports the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD) observed in a three-generation family with five individuals affected. Interestingly, one of the individuals exhibited benign familial infantile convulsions (BFIC) at a young age, which spontaneously resolved. At a later age, she developed PKD and gradually relieved. Whole exome sequence and co-segregation analysis identified a novel heterozygous variant in the TMEM151A gene. The findings suggest an association between the TMEM151A gene and the disease spectrum of PKD-PKD/IC-BFIC.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Ling-Yan Ma, Lin Han, Meng Niu, Lu Chen, Ya-Zhen Yu, Tao Feng
Summary: This study identified two novel variants of the TMEM151A gene in patients with PKD, further validating its role in the disorder. The clinical presentation of PKD cases with TMEM151A mutations was reviewed, revealing that male patients were more likely to receive treatment and have a good response, while a higher proportion of female patients did not receive treatment, possibly due to milder symptoms.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Yue Liu, Liang Wang, Zhenfei Li, Guang Ji, Yaling Liu
Summary: This article reports a case of a 16-year-old PKD patient with a likely pathogenic variant in the TMEM151A gene. The case further validates the pathogenic role of TMEM151A variants in PKD and expands our understanding of the relationship between this gene and clinical phenotypes in PKD.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Xiaoli Liu, Huiyi Ke, Xiaohang Qian, Shige Wang, Feixia Zhan, Ziyi Li, Wotu Tian, Xiaojun Huang, Bin Zhang, Li Cao
Summary: This study investigated the clinical and genetic features of PKD and analyzed the genotype-phenotype correlation. The results showed that PRRT2 mutations are common in PKD patients and are associated with earlier age at onset, longer duration of attacks, a complicated form of PKD, and combined phenotypes of dystonia and chorea. Patients with microdeletion of 16p11.2 may have more severe manifestations. The HKE test was found to contribute to the diagnosis of PKD.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Yu-Lan Chen, Dian-Fu Chen, Hong-Fu Li, Zhi-Ying Wu
Summary: This study compared the phenotypic characteristics of patients with PKD carrying PRRT2 variants, TMEM151A variants, and neither variant. Patients with TMEM151A variants showed different features from those with PRRT2 variants.
MOVEMENT DISORDERS
(2022)
Review
Neurosciences
Li Cao, Xiaojun Huang, Ning Wang, Zhiying Wu, Cheng Zhang, Weihong Gu, Shuyan Cong, Jianhua Ma, Ling Wei, Yanchun Deng, Qi Fang, Qi Niu, Jin Wang, Zhaoxia Wang, You Yin, Jinyong Tian, Shufen Tian, Hongyan Bi, Hong Jiang, Xiaorong Liu, Yang Lu, Meizhen Sun, Jianjun Wu, Erhe Xu, Tao Chen, Xu Chen, Wei Li, Shujian Li, Qinghua Li, Xiaonan Song, Ying Tang, Ping Yang, Yun Yang, Min Zhang, Xiong Zhang, Yuhu Zhang, Ruxu Zhang, Yi Ouyang, Jintai Yu, Quanzhong Hu, Qing Ke, Yuanrong Yao, Zhe Zhao, Xiuhe Zhao, Guohua Zhao, Furu Liang, Nan Cheng, Jianhong Han, Rong Peng, Shengdi Chen, Beisha Tang
Summary: Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements, with paroxysmal kinesigenic dyskinesia being the most common type that can be divided into primary and secondary types. Research has revealed the genetic characteristics and underlying mechanisms of PKD, with PRRT2 gene identified as the causative gene for PKD.
TRANSLATIONAL NEURODEGENERATION
(2021)
Article
Genetics & Heredity
Shiroh Miura, Tomofumi Shimojo, Takuya Morikawa, Takashi Kamada, Yusuke Uchiyama, Seiji Kurata, Ryuta Fujioka, Hiroki Shibata
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by movement attacks triggered by sudden movements, acceleration, or intention to move. A study of two Japanese familial cases revealed possible involvement of variants in the NBEA gene.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Neurosciences
Xiuli Li, Du Lei, Running Niu, Lei Li, Xueling Suo, Wenbin Li, Chen Yang, Tianhua Yang, Jiechuan Ren, Walter H. L. Pinaya, Dong Zhou, Graham J. Kemp, Qiyong Gong
Summary: This study discovered significant abnormalities in the global and local properties of GM morphological networks in PKD patients compared to healthy controls. Nodal topological characteristics in specific brain regions were also found to be significantly altered in PKD patients. The classification of individuals as PKD patients versus healthy controls using GM morphological network matrices achieved a high accuracy rate of 87.8%.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Fang Ji, Qing Ke, Kang Wang, Ben-yan Luo
Summary: The pathogenesis of primary paroxysmal kinesigenic dyskinesia (PKD) is unclear, but channelopathy is a possibility. In a study comparing PKD patients with control subjects and hypokalemic periodic paralysis (HoPP) patients, PKD patients showed differences in exercise test results compared to HoPP patients. Genetic testing revealed PRRT2 mutations in some PKD patients, but these gene abnormalities did not correlate with exercise test parameters.
NEUROLOGICAL SCIENCES
(2021)
