'What's in a Name?' Naming Genetically Determined Movement Disorders: Gap and Controversy

Area of Science:

• Neurology
• Genetics
• Movement Disorders

Background:

• The International Parkinson and Movement Disorder Society (MDS) proposed a new nomenclature for genetic movement disorders in 2016.
• Existing numbered loci (e.g., DYT1) presented practical naming challenges.
• Concerns included subjectivity, overlooking non-movement features, and the need for frequent updates.

Purpose of the Study:

• To evaluate the implementation of the 2016 MDS nomenclature for genetic movement disorders.
• To identify strengths and weaknesses of the proposed naming system.
• To consider opportunities for future improvements.

Main Methods:

• Review of peer-reviewed literature.
• Analysis of the application of the MDS nomenclature across different movement disorder phenotypes.
• Discussion of nomenclature strengths, weaknesses, and potential revisions.

Main Results:

• Variable implementation of the new nomenclature was observed across various movement phenotypes.
• The nomenclature possesses both advantages and disadvantages.
• Further consideration and refinement are necessary.

Conclusions:

• The 2016 MDS nomenclature for genetic movement disorders has been variably adopted.
• Addressing identified weaknesses and exploring improvements is crucial for its effective long-term use.
• The MDS Nomenclature in Genetic Movement Disorders Study Group will weigh future options.