Evidence map›Paper›PMID 40088050›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2025

Brain Imaging Phenotypes Associated with Polygenic Risk for Essential Tremor.

Miranda Medeiros, Alexandre Pastor-Bernier, Houman Azizi, Zoe Schmilovich, Charles-Etienne Castonguay, Peter Savadjiev, Jean-Baptiste Poline, Etienne St-Onge, Fan Zhang, Lauren J O'Donnell and 5 more

Abstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2025. 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. Article
  2. 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

15 authors.

Miranda MedeirosDepartment of Human Genetics, McGill University, Montréal, Quebec, Canada.ORCID https://orcid.org/0009-0000-7759-9486
Alexandre Pastor-BernierMontreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada.ORCID https://orcid.org/0000-0002-8865-6551
Houman AziziMontreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada.
Zoe SchmilovichDepartment of Human Genetics, McGill University, Montréal, Quebec, Canada.
Charles-Etienne CastonguayDepartment of Human Genetics, McGill University, Montréal, Quebec, Canada.
Peter SavadjievMontreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada.
Jean-Baptiste PolineMontreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada.
Etienne St-OngeUniversité du Québec en Outaouais (UQO), Gatineau, Quebec, Canada.
Fan ZhangHarvard Medical School, Boston, Massachusetts, USA.
Lauren J O'DonnellHarvard Medical School, Boston, Massachusetts, USA.
Ofer PasternakDepartment of Psychiatry, Mass General Brigham, Harvard Medical School, Boston, Massachusetts, USA.
Yashar ZeighamiDepartment of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.ORCID https://orcid.org/0000-0002-0583-5811
Patrick A DionMontreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada.
Alain DagherMontreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada.
Guy A RouleauDepartment of Human Genetics, McGill University, Montréal, Quebec, Canada.ORCID https://orcid.org/0000-0001-8403-1418

Funding

CIHR 02226
6 · The paper itself

Abstract

Essential tremor (ET) is a common movement disorder with a strong genetic basis. Magnetic resonance imaging (MRI), particularly diffusion-weighted MRI (dMRI) and T1 MRI, have been used to identify brain abnormalities of ET patients. However, the mechanisms by which genetic risk affects the brain to render individuals vulnerable to ET remain unknown. We aimed to understand how ET manifests by identifying presymptomatic brain vulnerabilities driven by ET genetic risk. We probed the vulnerability of healthy people towards ET by investigating the association of morphometry, and white and grey matter dMRI with ET in polygenic risk scores (PRS) in roughly 30,000 individuals from the UK Biobank (UKB). Our results indicate significant effects of ET-PRS with mean diffusivity, fractional anisotropy, free water, radial diffusivity, and axial diffusivity in white matter tracts implicated in movement control. We found significant associations between ET-PRS and grey matter tissue microstructure, including the red nucleus, caudate, putamen, and motor thalamus. ET-PRS was associated with reduced grey matter volumes in several cortical and subcortical areas including the cerebellum. Identified anomalies included networks connected to surgical sites effective in ET treatment. Finally, in a secondary analysis, low PRS individuals compared with a small number of patients with ET (N = 49) in the UKB revealed many structural differences. Brain structural vulnerabilities in healthy people at risk of developing ET correspond to areas known to be involved in the pathology of ET. High genetic risk of ET seems to disrupt ET brain networks even in the absence of overt symptoms of ET. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

BrainEssential TremorMultifactorial InheritanceAdultAgedDiffusion Magnetic Resonance ImagingFemaleGenetic Predisposition to DiseaseGray MatterHumansMagnetic Resonance ImagingMaleMiddle AgedPhenotypeWhite Mattercommon genetic variantsessential tremorMRIpolygenic risk scorespresymptomatic

Identifiers

PMID40088050
PMCPMC12160987

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.