'What's in a Name?' Naming Genetically Determined Movement Disorders: Gap and Controversy
Connie Marras1, Alberto Albanese2,3, Mark Hallett4
1Edmond J. Safra Program in Parkinson's Disease, University Health Network, University of Toronto, Toronto, Ontario, Canada.
None:
In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names for disorders. The proposal incited commentary highlighting concerns of subjectivity, neglecting relevant non-movement features, and predicting the need for constant change as knowledge. An evaluation of the use of the nomenclature in the recent peer-reviewed literature revealed variable implementation across movement phenotypes. The nomenclature has strengths and weaknesses, which are discussed in this article. A consideration of opportunities for improvement is warranted, and weighing the options will be the task of the MDS Nomenclature in Genetic Movement Disorders Study Group. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
More Related Videos
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
08:04Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
Related Concept Videos
Disorders of the Nervous Tissue
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Gastrointestinal Motility Disorders
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Sex-linked Disorders
Incomplete Dominance
