Evidence map›Paper›PMID 31583275›Full record

ArticleNeurology. Genetics2019

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Joseph Park, Scott M Damrauer, Aris Baras, Jeffrey G Reid, John D Overton, Pedro Gonzalez-Alegre

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
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

6 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Child Neurology:Neurology · 2023
    Article
  3. Article
  4. Review
  5. Review
  6. Population Prevalence of DeleteriousTremor and other hyperkinetic movements (New York, N.Y.) · 2020
    Article
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

6 authors at 1 institution in 1 country.

Joseph ParkDepartment of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Scott M DamrauerDepartment of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Aris BarasDepartment of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Jeffrey G ReidDepartment of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
John D OvertonDepartment of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Pedro Gonzalez-AlegreDepartment of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
University of Pennsylvania · US

Funding

Precision Cardio-Metabolic Phenotyping for Genetic Discovery and Risk PredictionIK2CX001780 · VA · PHILADELPHIA VA MEDICAL CENTER · PI DAMRAUER, SCOTT MICHAEL · 2018 to 2023
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CSRD VA IK2 CX001780
6 · The paper itself

Abstract

objectiveTo estimate the prevalence of

methodsWe determined the frequency of the common trinucleotide deletion that causes DYT1 in the Genome Aggregation Database and the Penn Medicine Biobank, totaling exomes from over 135,000 individuals. We also evaluated the prevalence of other possible pathogenic variants in this gene and asked whether the D216H polymorphism is linked to a higher diagnostic rate for dystonia independent of the DYT1-causing mutation.

resultsThe estimated range of prevalence of the most common pathogenic variant that causes DYT1 is ∼17.6-26.1 carriers per 100,000 individuals. Based on the different data sets used, we predict that there are between 54,366 and 80,891 mutation carriers in the United States, which, due to the reduced penetrance of this variant, would translate into 16,475-24,513 DYT1 patients.

conclusionsOur data provide a prevalence estimate of the most common DYT1 mutation in the general population. This information is specifically important for those with interest in the development of precision therapeutics for dystonia.

Identifiers

PMID31583275
PMCPMC6745720
OpenAlexW2972925395

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.