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International Parkinson and Movement Disorder Society

 

Genetic Nomenclature in Movement Disorders Study Group

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Have questions? Contact the group’s MDS Staff Liaison, Andrew Juliot, at ajuliot@movementdisorders.org.

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.

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Leadership

Christine Klein
Christine Klein
Co-Chair

Connie Maras
Connie Marras
Co-Chair

Steering Committee:          

  • Sarah Camargos
  • Darius Ebrahimi-Fakhari
  • Christos Ganos
  • Kishore Kumar
  • Anthony Lang
  • Lara Lange
  • Katja Lohman
  • Diana Olszewska
  • Malco Rossi
  • Carolyn Sue
  • Bart Van de Warrenburg

Publications

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 (Last Updated: October 2022):

Member 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.

 

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Published Papers

Published paper

Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review

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  • Published paper

Published paper

Updated MDSGene Review on the Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson's Disease

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  • Published paper

Published paper

Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review

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  • Published paper

Published paper

ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series

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  • Published paper

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

The genetic nomenclature of recessive cerebellar ataxias

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  • Published paper

Published paper

Genotype‐phenotype relations for the Parkinson's disease genes Parkin, PINK1, DJ1: 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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