MDS Staff Liaison: Shazia Ali
Study Group Purpose
The purpose of this study group is to provide recommendations for revising the current nomenclature for genetically determined movement disorders in order to resolve or minimize problems that are sources of confusion and perpetuate misinformation.
Study Group Publications and Resources
Revision to Nomenclature of Genetically Determined Movement Disorders
A paper describing our proposed revision to the nomenclature of genetically determined movement disorders was published in the April 2016 issue of Movement Disorders. The lists of these entities is contained in the paper and are updated periodically.
Updates to the original lists can be found below:
Last Updated: October 2022
Thank you for your feedback
Prior to submission we solicited feedback from MDS members on our proposal and many thoughtful comments were gratefully received. Many ideas were incorporated into the paper, and responses of the study group to the comments are summarized here.
Genotype‐Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review
Authors: Kasten M, Hartmann C, Hampf J, SchaakeS, Westenberger A, Vollstedt E, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C
(April 2017) Movement Disorders
The genetic nomenclature of recessive cerebellar ataxias
Authors: Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP
(May 2018) Movement Disorders