TY - JOUR
T1 - Nomenclature of Genetic Movement Disorders
T2 - Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
AU - Task Force on Genetic Nomenclature in Movement Disorders
AU - Lange, Lara M.
AU - Gonzalez-Latapi, Paulina
AU - Rajalingam, Rajasumi
AU - Tijssen, Marina A.J.
AU - Ebrahimi-Fakhari, Darius
AU - Gabbert, Carolin
AU - Ganos, Christos
AU - Ghosh, Rhia
AU - Kumar, Kishore R.
AU - Lang, Anthony E.
AU - Rossi, Malco
AU - van der Veen, Sterre
AU - van de Warrenburg, Bart
AU - Warner, Tom
AU - Lohmann, Katja
AU - Klein, Christine
AU - Marras, Connie
N1 - Funding Information:
The study was supported by the Movement Disorder Society (to C.M., C.K., and K.L.), by the Deutsche Forschungsgemeinschaft (FOR2488) (to C.K. and K.L.), and the Damp Foundation (to K.L.). Funding agencies:
Funding Information:
Lara M. Lange, Carolin Gabbert, Katja Lohmann, Christine Klein, and Connie Marras are members of the ClinGen PD Gene Curation Expert Panel (GCEP) and receive support from the Parkinson's Foundation for PD GCEP gene curation efforts. Lara M. Lange receives support from the Bachmann‐Strauss Dystonia and Parkinson Foundation. Open Access funding enabled and organized by Projekt DEAL.
Publisher Copyright:
© 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
PY - 2022
Y1 - 2022
N2 - 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).
AB - 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).
KW - genetics
KW - movement disorders
KW - nomenclature
U2 - 10.1002/mds.28982
DO - 10.1002/mds.28982
M3 - Review article
AN - SCOPUS:85128953623
SN - 0885-3185
VL - 37
SP - 905
EP - 935
JO - Movement Disorders
JF - Movement Disorders
IS - 5
ER -