Genetic Nomenclature in Movement Disorders Study Group
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
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Steering Committee:
Mohamed Alimohamed
Lakshya Basumatary
Sarah Camargos
Zhidong Cen
Mario Cornejo-Olivas
Claudia Del Gamba
Christos Ganos
Kishore Kumar
Lara Lange
Diana Olszewska
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):
- Ataxia
- Chorea
- Dystonia
- Hereditary Spastic Paraplegias
- Mixed Movement Disorders
- Myoclonus
- Parkinsonism
- Paroxysmal Movement Disorders
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.
Published Papers
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
- Genetic Nomenclature
‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy
- Genetic Nomenclature
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria
- Genetic Nomenclature
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches
- Genetic Nomenclature
Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review
- Genetic Nomenclature
Updated MDSGene Review on the Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson's Disease
- Genetic Nomenclature
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review
- Genetic Nomenclature
ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series
- Genetic Nomenclature
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
- Genetic Nomenclature
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene
- Genetic Nomenclature
Genotype-phenotype relations in primary familial brain calcification (PFBC)
- Genetic Nomenclature
Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review
- Genetic Nomenclature
Genotype-phenotype relations for isolated dystonia genes: MDSGene systematic review
- Genetic Nomenclature
MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease
- Genetic Nomenclature
Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review
- Genetic Nomenclature
Genotype‐phenotype relations for the Parkinson's disease genes Parkin, PINK1, DJ1: MDSGene systematic review
- Genetic Nomenclature
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force
- Classification and Nomenclature
- Genetic Nomenclature
Launching the movement disorders society genetic mutation database (MDSGene)
- Genetic Nomenclature
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples
- Genetic Nomenclature
Features
Articles and stories about the group.
