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
Genetics & Heredity
Hua lin Huang, Qing xia Zhang, Fei Huang, Xiao yan Long, Zhi Song, Bo Xiao, Guo liang Li, Cai yu Ma, Ding Liu
Summary: By analyzing sporadic and familial cases, this study expands the understanding of the clinical and mutation spectrum of PKD caused by TMEM151A variants. The study clarifies the clinical and genetic features of Chinese PKD patients and explores the relationship between TMEM151A mutations and PKD.
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)
Article
Clinical Neurology
Asya Ekmen, Aurelie Meneret, Romain Valabregue, Benoit Beranger, Yulia Worbe, Jean-Charles Lamy, Sofien Mehdi, Anais Herve, Isaac Adanyeguh, Gizem Temiz, Philippe Damier, Domitille Gras, Agathe Roubertie, Juliette Piard, Vincent Navarro, Eugenie Mutez, Florence Riant, Quentin Welniarz, Marie Vidailhet, Stephane Lehericy, Sabine Meunier, Cecile Gallea, Emmanuel Roze
Summary: This study aimed to investigate the role of the cerebellum in the pathogenesis of PRRT2-related dyskinesia. The results showed that patients had structural and functional abnormalities in the cerebellum, and cerebellar stimulation could modulate communication within the cerebellar networks and restore it to the level observed in healthy controls.
Article
Neurosciences
Xiuli Li, Du Lei, Kun Qin, Lei Li, Yingying Zhang, Dong Zhou, Graham J. Kemp, Qiyong Gong
Summary: This study explored the impact of proline-rich transmembrane protein 2 mutations on the brain structure of paroxysmal kinesigenic dyskinesia patients. The results showed that these mutations lead to deficits in gray matter networks, offering new insights into the pathophysiological mechanisms of paroxysmal kinesigenic dyskinesia.
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)
Article
Clinical Neurology
Othman Mounir Alaoui, Pierre-Francois Charbonneau, Pauline Prin, Marie Mongin, Mathilde Choquer, Philippe Damier, Florence Riant, Bertrand Degos
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. This report presents three patients with PKD, including two with previously undescribed TMEM151A mutations.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Clinical Neurology
Lulu Yao, Wei Liang, Shanshan Mei, Erhe Xu, Xiaobo Huang
Summary: This report describes a case of elderly-onset paroxysmal kinesigenic dyskinesia (PKD) in a female patient. After thorough examinations, the patient was clinically diagnosed with PKD and showed improvement with oxcarbazepine treatment. This case expands our understanding of the age of onset of PKD and highlights the importance of accurate diagnosis.
NEUROLOGY AND THERAPY
(2022)
Article
Multidisciplinary Sciences
A. Ayanna Wade, Jelle van den Ameele, Seth W. Cheetham, Rebecca Yakob, Andrea H. Brand, Alex S. Nord
Summary: The study suggests that TaDa-seq is a valuable alternative method for mapping protein-DNA interactions in vivo, providing insights into regulatory targets of CHD8 and autism-related pathophysiology.
Article
Multidisciplinary Sciences
Zhenyu Zhang, Kyle Hernandez, Jeremiah Savage, Shenglai Li, Dan Miller, Stuti Agrawal, Francisco Ortuno, Louis M. Staudt, Allison Heath, Robert L. Grossman
Summary: The goal of National Cancer Institute's Genomic Data Commons (GDC) is to provide the cancer research community with a data repository of uniformly processed genomic and clinical data to support precision medicine through data sharing and collaborative analysis. The initial dataset includes various data types from NCI TCGA and TARGET projects, and data production started in June 2015 using an OpenStack-based private cloud. The GDC has analyzed more than 50,000 raw sequencing data inputs and generated different data types using the latest human genome reference build GRCh38, which are available for download and exploratory analysis at GDC Data Portal and Legacy Archive.
NATURE COMMUNICATIONS
(2021)
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)
Article
Clinical Neurology
Marcus Deschauer, Holger Hengel, Katrin Rupprich, Martina Kreiss, Beate Schlotter-Weigel, Mona Grimmel, Jakob Admard, Ilka Schneider, Bader Alhaddad, Anastasia Gazou, Marc Sturm, Matthias Vorgerd, Ghassan Balousha, Osama Balousha, Mohammed Falna, Jan S. Kirschke, Cornelia Kornblum, Berit Jordan, Torsten Kraya, Tim M. Strom, Joachim Weis, Ludger Schoels, Ulrike Schara, Stephan Zierz, Olaf Riess, Thomas Meitinger, Tobias B. Haack
Summary: The VWA1 protein is a new disease gene associated with neuromuscular disorders, causing muscle weakness in patients with common early childhood foot deformities. The disease presents with neurogenic and myopathic pathology features.
Article
Biochemistry & Molecular Biology
R. Su, L. Dong, D. Zou, H. Zhao, Y. Ren, F. Li, P. Yi, L. Li, Y. Zhu, Y. Ma, J. Wang, F. Wang, J. Yu
Article
Multidisciplinary Sciences
Xi Jiang, Chao Hu, Kyle Ferchen, Ji Nie, Xiaolong Cui, Chih-Hong Chen, Liting Cheng, Zhixiang Zuo, William Seibel, Chunjiang He, Yixuan Tang, Jennifer R. Skibbe, Mark Wunderlich, William C. Reinhold, Lei Dong, Chao Shen, Stephen Arnovitz, Bryan Ulrich, Jiuwei Lu, Hengyou Weng, Rui Su, Huilin Huang, Yungui Wang, Chenying Li, Xi Qin, James Mulloy, Yi Zheng, Jiajie Diao, Jie Jin, Chong Li, Paul P. Liu, Chuan He, Yuan Chen, Jianjun Chen
NATURE COMMUNICATIONS
(2017)
Article
Multidisciplinary Sciences
Yungui Wang, Jennifer R. Skibbe, Chao Hu, Lei Dong, Kyle Ferchen, Rui Su, Chenying Li, Hao Huang, Hengyou Weng, Huilin Huang, Xi Qin, Jie Jin, Jianjun Chen, Xi Jiang
SCIENTIFIC REPORTS
(2017)
Article
Biochemistry & Molecular Biology
Rui Su, Lei Dong, Chenying Li, Sigrid Nachtergaele, Mark Wunderlich, Ying Qing, Xiaolan Deng, Yungui Wang, Xiaocheng Weng, Chao Hu, Mengxia Yu, Jennifer Skibbe, Qing Dai, Dongling Zou, Tong Wu, Kangkang Yu, Hengyou Weng, Huilin Huang, Kyle Ferchen, Xi Qin, Bin Zhang, Jun Qi, Atsuo T. Sasaki, David R. Plas, James E. Bradner, Minjie Wei, Guido Marcucci, Xi Jiang, James C. Mulloy, Jie Jin, Chuan He, Jianjun Chen
Article
Cell & Tissue Engineering
Hengyou Weng, Huilin Huang, Huizhe Wu, Xi Qin, Boxuan Simen Zhao, Lei Dong, Hailing Shi, Jennifer Skibbe, Chao Shen, Chao Hu, Yue Sheng, Yungui Wang, Mark Wunderlich, Bin Zhang, Louis C. Dore, Rui Su, Xiaolan Deng, Kyle Ferchen, Chenying Li, Miao Sun, Zhike Lu, Xi Jiang, Guido Marcucci, James C. Mulloy, Jianhua Yang, Zhijian Qian, Minjie Wei, Chuan He, Jianjun Chen
Article
Cell Biology
Huilin Huang, Hengyou Weng, Wenju Sun, Xi Qin, Hailing Shi, Huizhe Wu, Boxuan Simen Zhao, Ana Mesquita, Chang Liu, Celvie L. Yuan, Yueh-Chiang Hu, Stefan Huettelmaier, Jennifer R. Skibbe, Rui Su, Xiaolan Deng, Lei Dong, Miao Sun, Chenying Li, Sigrid Nachtergaele, Yungui Wang, Chao Hu, Kyle Ferchen, Kenneth D. Greis, Xi Jiang, Minjie Wei, Lianghu Qu, Jun-Lin Guan, Chuan He, Jianhua Yang, Jianjun Chen
NATURE CELL BIOLOGY
(2018)
Correction
Multidisciplinary Sciences
Xi Jiang, Chao Hu, Kyle Ferchen, Ji Nie, Xiaolong Cui, Chih-Hong Chen, Liting Cheng, Zhixiang Zuo, William Seibel, Chunjiang He, Yixuan Tang, Jennifer R. Skibbe, Mark Wunderlich, William C. Reinhold, Lei Dong, Chao Shen, Stephen Arnovitz, Bryan Ulrich, Jiuwei Lu, Hengyou Weng, Rui Su, Huilin Huang, Yungui Wang, Chenying Li, Xi Qin, James C. Mulloy, Yi Zheng, Jiajie Diao, Jie Jin, Chong Li, Paul P. Liu, Chuan He, Yuan Chen, Jianjun Chen
NATURE COMMUNICATIONS
(2018)
Article
Multidisciplinary Sciences
Haixin Yin, Peng Song, Rui Su, Guihua Yang, Lei Dong, Min Luo, Bin Wang, Bei Gong, Changzheng Liu, Wei Song, Fang Wang, Yanni Ma, Junwu Zhang, Weibin Wang, Jia Yu
SCIENTIFIC REPORTS
(2016)
Article
Multidisciplinary Sciences
Huilin Huang, Hengyou Weng, Keren Zhou, Tong Wu, Boxuan Simen Zhao, Mingli Sun, Zhenhua Chen, Xiaolan Deng, Gang Xiao, Franziska Auer, Lars Klemm, Huizhe Wu, Zhixiang Zuo, Xi Qin, Yunzhu Dong, Yile Zhou, Hanjun Qin, Shu Tao, Juan Du, Jun Liu, Zhike Lu, Hang Yin, Ana Mesquita, Celvie L. Yuan, Yueh-Chiang Hu, Wenju Sun, Rui Su, Lei Dong, Chao Shen, Chenying Li, Ying Qing, Xi Jiang, Xiwei Wu, Miao Sun, Jun-Lin Guan, Lianghu Qu, Minjie Wei, Markus Muschen, Gang Huang, Chuan He, Jianhua Yang, Jianjun Chen
Article
Oncology
Yue Huang, Rui Su, Yue Sheng, Lei Dong, Ze Dong, Hongjiao Xu, Tengfeng Ni, Zijie Scott Zhang, Tao Zhang, Chenying Li, Li Han, Zhenyun Zhu, Fulin Lian, Jiangbo Wei, Qiangqiang Deng, Yungui Wang, Mark Wunderlich, Zhiwei Gao, Guoyu Pan, Dafang Zhong, Hu Zhou, Naixia Zhang, Jianhua Gan, Hualiang Jiang, James C. Mulloy, Zhijian Qian, Jianjun Chen, Cai-Guang Yang
Article
Hematology
Chenying Li, Lei Dong, Rui Su, Ying Bi, Ying Qing, Xiaolan Deng, Yile Zhou, Chao Hu, Mengxia Yu, Hao Huang, Xi Jiang, Xia Li, Xiao He, Dongling Zou, Chao Shen, Li Han, Miao Sun, Jennifer Skibbe, Kyle Ferchen, Xi Qin, Hengyou Weng, Huilin Huang, Chunxiao Song, Jianjun Chen, Jie Jin
Article
Oncology
Dongling Zou, Lei Dong, Chenying Li, Zhe Yin, Shuan Rao, Qi Zhou
CANCER CELL INTERNATIONAL
(2019)
Meeting Abstract
Hematology
Chao Shen, Yue Sheng, Rui Su, Xiaolan Deng, Sean Robinson, Zhe Yin, Lei Dong, Huilin Huang, Hengyou Weng, Chenying Li, Zhijian Qian, Xi Jiang, Jianjun Chen
Article
Oncology
Zejuan Li, Hengyou Weng, Rui Su, Xiaocheng Weng, Zhixiang Zuo, Chenying Li, Huilin Huang, Sigrid Nachtergaele, Lei Dong, Chao Hu, Xi Qin, Lichun Tang, Yungui Wang, Gia-Ming Hong, Hao Huang, Xiao Wang, Ping Chen, Sandeep Gurbuxani, Stephen Arnovitz, Yuanyuan Li, Shenglai Li, Jennifer Strong, Mary Beth Neilly, Richard A. Larson, Xi Jiang, Pumin Zhang, Jie Jin, Chuan He, Jianjun Chen
Meeting Abstract
Hematology
Hengyou Weng, Huilin Huang, Xi Qin, He Huang, Okwang Kwon, Ping Chen, Xi Jiang, Chao Hu, Hao Huang, Yungui Wang, Stephen Arnovitz, Shenglai Li, Jennifer Strong, Kyle Ferchen, Rui Su, Lei Dong, Chenying Li, Mary Beth Neilly, Zejuan Li, Jason Stewart, Carolyn Price, Yingming Zhao, Jianjun Chen