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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update

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dc.contributor.author Lange, Lara M.
dc.contributor.author Gonzalez-Latapi, Paulina
dc.contributor.author Rajalingam, Rajasumi
dc.contributor.author Tijssen, Marina A.J.
dc.contributor.author Ebrahimi-Fakhari, Darius
dc.contributor.author Gabbert, Carolin
dc.contributor.author Ganos, Christos
dc.contributor.author Ghosh, Rhia
dc.contributor.author Kumar, Kishore R.
dc.contributor.author Lang, Anthony E.
dc.contributor.author Rossi, Malco Damián
dc.contributor.author Van der Veen, Sterre
dc.contributor.author Van de Warrenburg, Bart
dc.contributor.author Warner, Tom
dc.contributor.author Lohmann, Katja
dc.contributor.author Klein, Christine
dc.contributor.author Marras, Connie
dc.contributor.author Task Force on Genetic Nomenclature in Movement Disorders
dc.date.accessioned 2023-02-22T15:03:53Z
dc.date.available 2023-02-22T15:03:53Z
dc.date.issued 2022-05
dc.identifier.citation Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi MD, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. es_ES
dc.identifier.uri https://doi.org/10.1002/mds.28982
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/789
dc.description.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. es_ES
dc.language.iso eng es_ES
dc.publisher Wiley-Liss es_ES
dc.subject Parkinson Disease es_ES
dc.subject Enfermedad de Parkinson es_ES
dc.subject Genetics es_ES
dc.subject Phenotype es_ES
dc.title Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.description.fil Fil: Rossi, Malco Damián. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.
dc.description.fil Fil: Lange, Lara M. University of Lübeck. Institute of Neurogenetics; Alemania.
dc.description.fil Fil: Gonzalez-Latapi, Paulina. University of Toronto; Canadá. Northwestern University Feinberg School of Medicine; Estados Unidos.
dc.description.fil Fil: Rajalingam, Rajasumi. Northwestern University Feinberg School of Medicine; Estados Unidos.
dc.description.fil Fil: Tijssen, Marina A.J. University of Groningen; Países Bajos.
dc.description.fil Fil: Ebrahimi-Fakhari, Darius. Harvard Medical School; Estados Unidos. Boston Children's Hospital; Estados Unidos.
dc.description.fil Fil: Gabbert, Carolin. University of Lübeck; Alemania.
dc.description.fil Fil: Ganos, Christos. Charité University Hospital Berlin; Alemania.
dc.description.fil Fil: Ghosh, Rhia. University College London; Reino Unido.
dc.description.fil Fil: Kumar, Kishore R. University of Sydney; Australia. Garvan Institute of Medical Research; Australia.
dc.description.fil Fil: Lang, Anthony E. University of Toronto; Canadá.
dc.description.fil Fil: Van der Veen, Sterre. University of Groningen; Países Bajos.
dc.description.fil Fil: Van de Warrenburg, Bart. Radboud University Medical Center; Países Bajos.
dc.description.fil Fil: Warner, Tom. University College London; Reino Unido.
dc.description.fil Fil: University of Lübeck; Alemania.
dc.description.fil Fil: Klein, Christine. University of Lübeck; Alemania.
dc.description.fil Fil: Marras, Connie. University of Toronto; Canadá.
dc.relation.ispartofVOLUME 37
dc.relation.ispartofNUMBER 5
dc.relation.ispartofPAGINATION 905-935.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofTITLE Movement disorders : official journal of the Movement Disorder Society
dc.relation.ispartofISSN 1531-8257
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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