Evidence map›Paper›PMID 40062447›Full record

ArticleEuropean journal of neurology2025

Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia.

Ahmet Kaymak, Luigi M Romito, Fabiana Colucci, Nico Golfrè Andreasi, Roberta Telese, Sara Rinaldo, Vincenzo Levi, Giovanna Zorzi, Zvi Israel, David Arkadir and 7 more

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In one paragraph

Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

17 authors.

Ahmet KaymakThe Biorobotics Institute, Scuola Superiore Sant'Anna, Pisa, Italy.ORCID 0000-0003-1239-6359
Luigi M RomitoMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Fabiana ColucciMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nico Golfrè AndreasiMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Roberta TeleseMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sara RinaldoMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Vincenzo LeviNeurosurgery Department, Functional Neurosurgery Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Giovanna ZorziDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Zvi IsraelDepartment of Neurosurgery, Hadassah Medical Center, Jerusalem, Israel.
David ArkadirFaculty of Medicine, The Hebrew University, Jerusalem, Israel.
Hagai BergmanDepartment of Neurosurgery, Hadassah Medical Center, Jerusalem, Israel.
Miryam CarecchioDepartment of Neuroscience, University of Padova, Padova, Italy.ORCID 0000-0002-0755-5477
Holger ProkischInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Michael ZechInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Barbara GaravagliaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Alberto MazzoniThe Biorobotics Institute, Scuola Superiore Sant'Anna, Pisa, Italy.
Roberto EleopraMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Funding

Ministero dell'Istruzione, dell'Università e della Ricerca IECS00000017
6 · The paper itself

Abstract

backgroundElevated low-frequency activity (4-12 Hz) within the globus pallidus internus (GPi) has been consistently associated with dystonia. However, the impacts of the genetic etiology of dystonia on low-frequency GPi activity remain unclear; yet it holds importance for adaptive deep brain stimulation (DBS) treatment.

methodsWe compared the properties of GPi electrophysiology acquired from 70 microelectrode recordings (MER) trajectories of DYT-GNAL, DYT-KMT2B, DYT-SGCE, DYT-THAP1, DYT-TOR1A, DYT-VPS16, and idiopathic dystonia (iDYT) patients who underwent GPi-DBS surgery across standard frequency bands.

resultsDYT-SGCE patients exhibited significantly lower alpha band activity (2.97%) compared to iDYT (4.44%, p = 0.006) and DYT-THAP1 (4.51%, p = 0.011). Additionally, theta band power was also significantly reduced in DYT-SGCE (4.42%) compared to iDYT and DYT-THAP1 (7.91% and 7.00%, p < 0.05). Instead, the genetic etiology of dystonia did not affect the spatial characteristics of GPi electrophysiology along MER trajectories.

conclusionConsidering the genetic etiology of dystonia in closed-loop DBS treatments and utilizing theta and alpha activity for GPi stimulation may optimize clinical outcomes. MER-based DBS lead placement can proceed independently of the underlying genetic cause.

Indexed as

Brain WavesDeep Brain StimulationDystonic DisordersGlobus PallidusAdolescentAdultChildFemaleGenetic TestingHumansMaleMicroelectrodesMiddle AgedStereotaxic TechniquesTreatment OutcomeYoung Adultalpha oscillationsdeep brain stimulationdystoniaelectrophysiologygenetics

Identifiers

PMID40062447
PMCPMC11891763

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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.