Evidence map›Paper›PMID 31523486›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2019

Naming Genes for Dystonia: DYT-z or Ditzy?

Niccolo E Mencacci, H A Jinnah

Abstract read
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. 'What's in a Name?' Naming Genetically Determined Movement Disorders: Gap and Controversy.Movement disorders : official journal of the Movement Disorder Society · 2026
    Review
  2. Neurosurgical management of non-spastic movement disorders.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Niccolo E MencacciDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
H A JinnahDepartments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization's plan for naming genetic loci for all disorders. For dystonia this involves a DYT prefix followed by a number (e.g., DYT1, DYT2, DYT3, etc.). A more recently proposed approach involves assigning multiple prefixes according to the main elements of the phenotype (e.g., DYT, PARK, CHOR, TREM, etc.) followed by the name of the responsible gene. This article describes these nomenclature systems and summarizes some of their limitations. We focus on dystonia as an example, although the concepts may be applied to all movement disorders.

Indexed as

Genetic LociGenome, HumanTerminology as TopicDystonic DisordersHumansDystoniagenegenetic variantlocusmutationnomenclature

Identifiers

PMID31523486
PMCPMC6714488

What OpenQuestion holds

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Registered trials

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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.