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
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)
Editorial Material
Genetics & Heredity
Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
Summary: This study identified a group of patients with isolated paroxysmal kinesigenic dyskinesia (PKD) who also have 16p11.2 microdeletion (16p11.2MD), and described their related phenotypes. The results showed that most of these patients had mild language delay, compromised learning ability, and mild motor delay, as well as abnormal neuroimaging findings in some cases. It is important to conduct a detailed developmental history inquiry and CNV testing to distinguish these patients from those with isolated PKD.
NEUROLOGY-GENETICS
(2022)
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
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
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.
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
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
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
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.
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
Li-Ou Tang, Bing-Hui Hou, Xiao-Na Zhang, Zhao-Yan Xi, Chun-Xiao Li, Lin Xu
Summary: This study reports biallelic mutations in the XPR1 gene and a possible link between XPR1 mutations and paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), providing a systematic review and data support for the clinical manifestations of XPR1 mutations.
BRAIN & DEVELOPMENT
(2021)
Article
Genetics & Heredity
Axel Weber, Jonas Kreth, Ulrich Mueller
BMC MEDICAL GENETICS
(2016)
Article
Clinical Neurology
Karsten Koenigstein, Carolin Gramsch, Malgorzata Kolodziej, Bernd A. Neubauer, Axel Weber, Sarah Lechner, Andreas Hahn
Article
Multidisciplinary Sciences
Axel Weber, Sigrid C. Schwarz, Jorg Tost, Dietrich Truembach, Pia Winter, Florence Busato, Pawel Tacik, Anita C. Windhorst, Maud Fagny, Thomas Arzberger, Catriona McLean, John C. van Swieten, Johannes Schwarz, Daniela Vogt Weisenhorn, Wolfgang Wurst, Till Adhikary, Dennis W. Dickson, Gunter U. Hoelinger, Ulrich Mueller
NATURE COMMUNICATIONS
(2018)
Article
Medicine, Research & Experimental
Axel Weber, Sylvia Taube, Sven Starke, Eckhard Bergmann, Nina Merete Christiansen, Holger Christiansen
JOURNAL OF CLINICAL INVESTIGATION
(2011)
Article
Genetics & Heredity
Axel Weber, Angelika Koehler, Andreas Hahn, Ulrich Mueller
MOLECULAR CYTOGENETICS
(2014)
Review
Medicine, General & Internal
Sven Starke, Axel Weber, Stefan Fest, Lars Fischer, Holger Christiansen
CENTRAL EUROPEAN JOURNAL OF MEDICINE
(2013)
Article
Clinical Neurology
Anne Schaenzer, Melanie T. Achleitner, Dietrich Truembach, Laurence Hubert, Arnold Munnich, Barbara Ahlemeyer, Maha M. AlAbdulrahim, Philipp A. Greif, Sebastian Vosberg, Blake Hummer, Rene G. Feichtinger, Johannes A. Mayr, Saskia B. Wortmann, Heidi Aichner, Sabine Rudnik-Schoeneborn, Anna Ruiz, Elisabeth Gabau, Jacobo Perez Sanchez, Sian Ellard, Tessa Homfray, Karen L. Stals, Wolfgang Wurst, Bernd A. Neubauer, Till Acker, Stefan K. Bohlander, Cedric Asensio, Claude Besmond, Fowzan S. Alkuraya, Moenaldeen D. AlSayed, Andreas Hahn, Axel Weber
Summary: Mutations in the HID1 gene were found to cause early infantile encephalopathy with hypopituitarism as the main presentation, expanding the spectrum of syndromic CNS diseases caused by interference with TGN function.
ANNALS OF NEUROLOGY
(2021)
Review
Genetics & Heredity
Ivonne Bedei, Aline Wolter, Axel Weber, Fabrizio Signore, Roland Axt-Fliedner
Summary: Since the 1960s, screening for Down syndrome has advanced significantly, with methods such as first trimester screening and non-invasive prenatal testing now being widely used. In parallel, new technologies like chromosomal microarrays and sequencing methods have expanded diagnostic capabilities for fetal anomalies.
Article
Multidisciplinary Sciences
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Inigo Marcos-Alcalde, Maria Arnedo, Angela Ascaso, Ariadna Ayerza-Casas, Rebeca Antonanzas-Perez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gomez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pie
Summary: The high prevalence of mosaicism in CdLS patients, along with the negative selection against somatic deleterious NIPBL variants in blood, suggests a novel direction for clinical management and genetic counseling of families. The severity of symptoms in individuals with somatic mosaicism is comparable to those with constitutive pathogenic variants. Missense substitutions in NIPBL, even in the presence of mosaicism, are preferentially located within the HEAT repeat domain.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schuetz, Tobias B. Haack, Axel Weber, Eleni Biliouri, Mateja Vinksel, Anja Zagozen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B. Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R. Mortier
Summary: By sequencing the genes, five pathogenic variants in CBFB were identified in a cohort of eight individuals with clinical and radiographic features reminiscent of CCD, confirming the previously suggested locus heterogeneity for CCD. CBFB-related CCD displayed similar dental and clavicular abnormalities as RUNX2-related CCD, while normal stature and neurocognitive problems were distinguishing features.
JOURNAL OF MEDICAL GENETICS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
L. Moesle, H. Christiansen, S. Ackermann, A. Weber
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Correction
Genetics & Heredity
Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A. Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2017)
Article
Genetics & Heredity
Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A. Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2017)
Article
Oncology
Axel Weber, Sylvia Taube, Udo Zur Stadt, Martin Horstmann, Knut Krohn, Jutta Bradtke, Andrea Teigler-Schlegel, Sabine Leiblein, Holger Christiansen
EXPERIMENTAL HEMATOLGY & ONCOLOGY
(2012)
