Evidence map›Paper›PMID 28674168›Full record

Trial reportThe Journal of neuroscience : the official journal of the Society for Neuroscience2017

Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia.

Stefan Fuertinger, Kristina Simonyan

2 registry-linked trialsOpen access · bronzeAbstract readRandomized Controlled Trial
In one paragraph

Trial report in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
2.6field-weighted citation impact, top 10% 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.

NCT03042962 recruitingnot on this map

Brain Networks in Dystonia

TypeobservationalSponsorMassachusetts Eye and Ear InfirmaryRan2015 to 2027Enrolled141ConditionsSpasmodic Dysphonia, Singer's Dystonia, Writer's Cramp, Musician's Focal Hand DystoniaArmsMRI, Blood draw
NCT03042975 recruitingnot on this map

Imaging Genetics of Laryngeal Dystonia

TypeobservationalSponsorKristina SimonyanRan2017 to 2028Enrolled410ConditionsLaryngeal Dystonia, Unaffected Relatives of Laryngeal Dystonia Patients, Voice Tremor, Muscle Tension DysphoniaArmsMRI, Blood draw
3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 31 citations in OpenAlex.

  1. Abnormal Brain Iron Metabolism is Linked to Altered Neural Function in Isolated Laryngeal Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
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  9. Review
  10. Article
  11. Article
  12. Neural Representations of the Voice Tremor Spectrum.Movement disorders : official journal of the Movement Disorder Society · 2020
    Article
  13. A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform.Proceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Functional and structural neural bases of task specificity in isolated focal dystonia.Movement disorders : official journal of the Movement Disorder Society · 2019
    Article
  19. Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel.Movement disorders : official journal of the Movement Disorder Society · 2018
    Article
  20. 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

2 authors at 2 institutions in 2 countries.

Stefan FuertingerDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, and.
Kristina SimonyanDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, and dystonia.research@gmail.com.ORCID 0000-0001-7444-0437
Ernst Strüngmann Institute for Neuroscience · DEIcahn School of Medicine at Mount Sinai · US

Funding

Imaging genetics of spasmodic dysphoniaR01DC011805 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Kristina Simonyan · 2012 to 2026
$8.8M
Brain Networks in DystoniaR01NS088160 · NINDS · MASSACHUSETTS EYE AND EAR INFIRMARY · PI SIMONYAN, KRISTINA · 2015 to 2019
$2.4M
NIDCD NIH HHS R01 DC011805NINDS NIH HHS R01 NS088160
6 · The paper itself

Abstract

Isolated focal dystonia is a debilitating movement disorder of unknown pathophysiology. Early studies in focal dystonias have pointed to segregated changes in brain activity and connectivity. Only recently has the notion that dystonia pathophysiology may lie in abnormalities of large-scale brain networks appeared in the literature. Here, we outline a novel concept of functional connectome-wide alterations that are linked to dystonia phenotype and genotype. Using a neural community detection strategy and graph theoretical analysis of functional MRI data in human patients with the laryngeal form of dystonia (LD) and healthy controls (both males and females), we identified an abnormally widespread hub formation in LD, which particularly affected the primary sensorimotor and parietal cortices and thalamus. Left thalamic regions formed a delineated functional community that highlighted differences in network topology between LD patients with and without family history of dystonia. Conversely, marked differences in the topological organization of parietal regions were found between phenotypically different forms of LD. The interface between sporadic genotype and adductor phenotype of LD yielded four functional communities that were primarily governed by intramodular hub regions. Conversely, the interface between familial genotype and abductor phenotype was associated with numerous long-range hub nodes and an abnormal integration of left thalamus and basal ganglia. Our findings provide the first comprehensive atlas of functional topology across different phenotypes and genotypes of focal dystonia. As such, this study constitutes an important step toward defining dystonia as a large-scale network disorder, understanding its causative pathophysiology, and identifying disorder-specific markers.

Indexed as

BrainConnectomeDystonic DisordersFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansLaryngeal DiseasesMaleMiddle AgedNerve NetNeural PathwaysPhenotypeSpeech Disordersdystoniafunctional connectomegenotype-phenotype interactionsspasmodic dysphonia

Identifiers

PMID28674168
PMCPMC5546112
OpenAlexW2733477064

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.