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International Parkinson and Movement Disorder Society
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Genetic Nomenclature in Movement Disorders Study Group

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Christine Klein
Christine Klein
Co-Chair		 Connie Maras
Connie Marras
Co-Chair

 

 

MDS Staff Liaison: Andrew Juliot

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 Members              

  • Darius Ebrahimi-Fakhari
  • Vladimir Kostic
  • Anthony Lang
  • Katja Lohman
  • Malco Rossi
  • Carolyn Sue
  • Sara Tabrizi
  • Marina de Koning-Tijssen
  • Tom Warner
  • Bart Van de Warrenburg
     

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.

Other Publications

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

 

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Published Papers

Published paper

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

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  • Published paper

Published paper

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene

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  • Published paper

Published paper

Genotype-phenotype relations in primary familial brain calcification (PFBC)

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  • Published paper

Published paper

Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

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  • Published paper

Published paper

Genotype-phenotype relations for isolated dystonia genes: MDSGene systematic review

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  • Published paper

Published paper

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

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  • Published paper

Published paper

MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease

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  • Published paper

Published paper

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

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  • Published paper

Published paper

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

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  • Published paper

Published paper

Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”: Necessary evolution, no magic!

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  • Published paper

Published paper

Launching the movement disorders society genetic mutation database (MDSGene)

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  • Published paper

Published paper

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

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  • Published paper

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