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Review
. 2022 May;37(5):905-935.
doi: 10.1002/mds.28982. Epub 2022 Apr 28.

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

Lara M Lange  1 , Paulina Gonzalez-Latapi  2   3 , Rajasumi Rajalingam  2 , Marina A J Tijssen  4 , Darius Ebrahimi-Fakhari  5   6 , Carolin Gabbert  1 , Christos Ganos  7 , Rhia Ghosh  8 , Kishore R Kumar  9   10 , Anthony E Lang  2 , Malco Rossi  11 , Sterre van der Veen  4 , Bart van de Warrenburg  12 , Tom Warner  13 , Katja Lohmann #  1 , Christine Klein #  1 , Connie Marras #  2 ; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders
Affiliations
Review

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

Lara M Lange et al. Mov Disord. 2022 May.

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.

Keywords: genetics; movement disorders; nomenclature.

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References

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    1. Marras C, Lang A, van de Warrenburg BP, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord 2016;31(4):436-457.
    1. Rossi M, Anheim M, Durr A, et al. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord 2018a;33(7):1056-1076.
    1. van der Veen S, Zutt R, Klein C, et al. Nomenclature of genetically determined myoclonus syndromes: recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord 2019;34(11):1602-1613.

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