eprintid: 10153352 rev_number: 7 eprint_status: archive userid: 699 dir: disk0/10/15/33/52 datestamp: 2022-08-05 12:43:46 lastmod: 2022-08-05 12:43:46 status_changed: 2022-08-05 12:43:46 type: article metadata_visibility: show sword_depositor: 699 creators_name: Lange, Lara M creators_name: Gonzalez-Latapi, Paulina creators_name: Rajalingam, Rajasumi creators_name: Tijssen, Marina AJ creators_name: Ebrahimi-Fakhari, Darius creators_name: Gabbert, Carolin creators_name: Ganos, Christos creators_name: Ghosh, Rhia creators_name: Kumar, Kishore R creators_name: Lang, Anthony E creators_name: Rossi, Malco creators_name: van Der Veen, Sterre creators_name: van de Warrenburg, Bart creators_name: Warner, Tom creators_name: Lohmann, Katja creators_name: Klein, Christine creators_name: Marras, Connie title: Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update ispublished: pub divisions: C07 divisions: F84 divisions: B02 divisions: UCL divisions: D07 keywords: genetics, movement disorders, nomenclature note: Copyright © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. abstract: In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease-causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society. date: 2022-05 date_type: published publisher: WILEY official_url: https://doi.org/10.1002/mds.28982 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1967878 doi: 10.1002/mds.28982 medium: Print-Electronic lyricists_name: Warner, Thomas lyricists_id: TTWAR25 actors_name: Flynn, Bernadette actors_id: BFFLY94 actors_role: owner funding_acknowledgements: [Movement Disorder Society]; FOR2488 [Deutsche Forschungsgemeinschaft]; [Damp Foundation] full_text_status: public publication: Movement Disorders volume: 37 number: 5 pagerange: 905-935 pages: 31 event_location: United States issn: 0885-3185 citation: Lange, Lara M; Gonzalez-Latapi, Paulina; Rajalingam, Rajasumi; Tijssen, Marina AJ; Ebrahimi-Fakhari, Darius; Gabbert, Carolin; Ganos, Christos; ... Marras, Connie; + view all <#> Lange, Lara M; Gonzalez-Latapi, Paulina; Rajalingam, Rajasumi; Tijssen, Marina AJ; Ebrahimi-Fakhari, Darius; Gabbert, Carolin; Ganos, Christos; Ghosh, Rhia; Kumar, Kishore R; Lang, Anthony E; Rossi, Malco; van Der Veen, Sterre; van de Warrenburg, Bart; Warner, Tom; Lohmann, Katja; Klein, Christine; Marras, Connie; - view fewer <#> (2022) Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update. Movement Disorders , 37 (5) pp. 905-935. 10.1002/mds.28982 <https://doi.org/10.1002/mds.28982>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10153352/1/Movement%20Disorders%20-%202022%20-%20Lange%20-%20Nomenclature%20of%20Genetic%20Movement%20Disorders%20%20Recommendations%20of%20the%20International.pdf