ReviewNeurology2012
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.
Review in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed.
- 'What's in a Name?' Naming Genetically Determined Movement Disorders: Gap and Controversy.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei.Dystonia (Lausanne, Switzerland) · 2025Article
- Dystonia Diagnosis: Clinical Neurophysiology and Genetics.Journal of clinical medicine · 2022Review
- Dystonia updates: definition, nomenclature, clinical classification, and etiology.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- The Importance ofCells · 2021Review
- Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.Movement disorders : official journal of the Movement Disorder Society · 2019Review
- [Genetics of movement disorders-rare but important].Der Nervenarzt · 2019Review
- Naming Genes for Dystonia: DYT-z or Ditzy?Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Article
- MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease.Journal of Parkinson's disease · 2018Review
- [Epidemiology and causes of Parkinson's disease].Der Nervenarzt · 2017Review
- Update on the Genetics of Dystonia.Current neurology and neuroscience reports · 2017Review
- The genetics of primary familial brain calcifications.Current neurology and neuroscience reports · 2014Review
- Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease.Movement disorders : official journal of the Movement Disorder Society · 2014Review
- The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.Journal of neurology · 2014Article
- Primary dystonia: moribund or viable.Movement disorders : official journal of the Movement Disorder Society · 2013Review
- Phenomenology and classification of dystonia: a consensus update.Movement disorders : official journal of the Movement Disorder Society · 2013Review
- Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.Annals of neurology · 2013Article
- [Genetics of movement disorders].Der Nervenarzt · 2013Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Originally, locus symbols (e.g., DYT1) were introduced to specify chromosomal regions that had been linked to a familial disorder with a yet unknown gene. Symbols were systematically assigned in a numerical series to designate mapped loci for a specific phenotype or group of phenotypes. Since the system of designating and using locus symbols was originally established, both our knowledge and our techniques of gene discovery have evolved substantially. The current system has problems that are sources of confusion, perpetuate misinformation, and misrepresent the system as a useful reference tool for a list of inherited disorders of a particular phenotypic class. These include erroneously assigned loci, duplicated loci, missing symbols, missing loci, unconfirmed loci in a consecutively numbered system, combining causative genes and risk factor genes in the same list, and discordance between phenotype and list assignment. In this article, we describe these problems and their impact, and propose solutions. The system could be significantly improved by creating distinct lists for clinical and research purposes, creating more informative locus symbols, distinguishing disease-causing mutations from risk factors, raising the threshold of evidence prior to assigning a locus symbol, paying strict attention to the predominant phenotype when assigning symbols lists, and having a formal system for reviewing and continually revising the list that includes input from both clinical and genetics experts.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.