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Naming Genes for Dystonia: DYT-z or Ditzy? Cover

Naming Genes for Dystonia: DYT-z or Ditzy?

Open Access
|Aug 2019

Figures & Tables

Table 1

Comparison of Traditional and New Nomenclature Plans

CharacteristicTraditional HUGO PlanMDS Task Force Plan
Useful for linkage studiesYesNo; it requires identification of gene before a label is assigned
Inclusive of all dystoniasPoor; large numbers of dystonias are missing and will never be addedModest; large numbers of dystonias are still not assigned labels
Identifies a single unique disorderNoYes
Label is stable over timeYes; except for errorsNo, prefix will evolve as new information expands the phenotype
Clear process for assigning labelsYes; assigned by HUGONo; unclear authority for assignment
Simple and easy to useYesNo; requires substantial expertise in neurogenetics
Accommodates multiple movement phenotypesNoYes
Accommodates non-movement phenotypesNoNo
Likely to be adopted by non-movement fieldsYes; already in use across all of medicineNo; relevant only for movement field
Accurately reflects the dominant movement disorder phenotypeNo; not all DYT labels correspond to disorders where dystonia is the dominant featurePartly; based on order of prefix listing
Useful clinical system for classifying dystonias into meaningful groupsNo; this is a list, not a classification systemPartly; depending on prefix
Useful biological system for classifying dystonias into meaningful groupsNo; this is a list, not a classification systemNo; provides gene name only

[i] Abbreviations: HUGO, the Human Genome Organization; MDS, Movement Disorders Society.

DOI: https://doi.org/10.5334/tohm.525 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jul 29, 2019
Accepted on: Jul 30, 2019
Published on: Aug 28, 2019
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Niccolo E. Mencacci, H. A. Jinnah, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.