Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Autor: Thomas V Fernandez, Zsanett P Williams, Tina Kline, Shreenath Rajendran, Farhan Augustine, Nicole Wright, Catherine A W Sullivan, Emily Olfson, Sarah B Abdallah, Wenzhong Liu, Ellen J Hoffman, Abha R Gupta, Harvey S Singer

Publikováno v: PLoS ONE, Vol 18, Iss 10, p e0291978 (2023)

Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children ("primary" stereotypies, pCMS). The precise pathophysiological mechanism for m

Externí odkaz: https://doaj.org/article/b5acaf4738a646d28eb9d773e4b5a7cf

Synaptic processes and immune-related pathways implicated in Tourette syndrome

Autor: Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Y. Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, Harald Aschauer, Mara Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas V. Fernandez, Csaba Barta, Zsanett Tarnok, Peter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Danielle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou, on behalf of the Tourette Association of America International Consortium for Genetics, Sabrina Darrow, Roger Kurlan, James F. Leckman, Jan H. Smit, the Gilles de la Tourette GWAS Replication Initiative, Harald Aschauer Harald Aschauer, Anastasios Konstantinidis, Kirsten Müller-Vahl, Tomasz Wolanczyk, the Tourette International Collaborative Genetics Study, Lawrence Brown, Keun-Ah Cheon, Blanca Garcia-Delgar, Donald Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Bennett L. Leventhal, Marcos Madruga-Garrido, Pablo Mir, Astrid Morer, Alexander Münchau, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Samuel Zinner, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group, Thomas Fernandez, Gary Heiman, Pieter Hoekstra, Jay Tischfield, Douglas Woods

Publikováno v: Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis

Externí odkaz: https://doaj.org/article/1e03ee514141459ab171b2316307b113

Creating a Patient-Based Diagnostic Checklist for Functional Tics During the COVID-19 Pandemic

Autor: Steven Patrick Trau, Luke Quehl, Tamy H. M. Tsujimoto, Feng-Chang Lin, Harvey S. Singer

Publikováno v: Neurol Clin Pract

Background and ObjectivesSince the onset of the COVID-19 pandemic, there has been a dramatic change in the presentation of patients with tics. The explosive presentation of atypical tics (TT) has been noted worldwide and thought to be the manifestati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf0ad178c09ac5af77cf736d1758ca4
https://doi.org/10.1212/cpj.0000000000200067

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Autor: Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tumer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten R. Müller-Vahl, Danielle C. Cath, Dorret I. Boomsma, Tomasz Wolanczyk, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Shanmukha S. Padmanabhuni, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Evangelia Yannaki, John A. Stamatoyannopoulos, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Pablo Mir, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Veit Roessner, Susanne Walitza, Anette Schrag, Davide Martino, Jay A. Tischfield, Gary A. Heiman, A. Jeremy Willsey, Andrea Dietrich, Lea K. Davis, James J. Crowley, Carol A. Mathews, Jeremiah M. Scharf, Marianthi Georgitsi, Pieter J. Hoekstra, Peristera Paschou, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Christos Androutsos, Entela Basha, Luca Farkas, Jakub Fichna, Piotr Janik, Mira Kapisyzi, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Natalia Szejko, Urszula Szymanska, Vaia Tsironi, Alan Apter, Juliane Ball, Benjamin Bodmer, Emese Bognar, Judith Buse, Marta Correa Vela, Carolin Fremer, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Marcos Madruga-Garrido, Alessandra Pellico, Daphna Ruhrman, Jaana Schnell, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Victoria L. Turner, Elif Weidinger, John Alexander, Tamas Aranyi, Wim R. Buisman, Jan K. Buitelaar, Nicole Driessen, Petros Drineas, Siyan Fan, Natalie J. Forde, Sarah Gerasch, Odile A. van den Heuvel, Cathrine Jespersgaard, Ahmad S. Kanaan, Harald E. Möller, Muhammad S. Nawaz, Ester Nespoli, Luca Pagliaroli, Geert Poelmans, Petra J.W. Pouwels, Francesca Rizzo, Dick J. Veltman, Ysbrand D. van der Werf, Joanna Widomska, Nuno R. Zilhäo, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Thomas V. Fernandez, Donald L. Gilbert, Hyun Ju Hong, Laura Ibanez-Gomez, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Athanasios Maras, Tara L. Murphy, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Matthew W. State, Frank Visscher, Sheng Wang, Samuel H. Zinner

Publikováno v: Biological Psychiatry. Elsevier USA
Biological psychiatry. Elsevier USA
The TSAICG, The TIC Genetics Collaborative Group, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network & The PGC TS Working Group 2023, ' Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023
Tsetsos, F, Topaloudi, A, Jain, P, Cath, D C, Boomsma, D I, Georgitsi, M, Hoekstra, P J, Paschou, P & Tourette Syndrome Association International Consortium for Genetics (TSAICG) 2023, ' Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome ', Biological psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023

Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year. Methods: We performed a genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78fa15af44fe87bfe9b33010ba24f59a
https://doi.org/10.1016/j.biopsych.2023.01.023

The Role of the Cerebellum in Repetitive Behavior Across Species: Childhood Stereotypies and Deer Mice

Autor: Shannon L. Dean, Harvey S. Singer, Stewart H. Mostofsky, Deana Crocetti, Farhan Augustine, Syed Ali, Laura Tochen, Shreenath Rajendran, Mary E. Blue, E. Mark Mahone

Publikováno v: The Cerebellum. 21:440-451

Recent studies suggest that the cerebellum may have a significant role in repetitive behaviors. In primary complex motor stereotypies, typically developing children have repetitive movements usually involving rhythmic flapping/waving arm/hand movemen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a5c92b8a4be6d57ce73ac3927a4cde6
https://doi.org/10.1007/s12311-021-01301-3