Evidence map›Paper›PMID 40539305›Full record

ArticleAnnals of clinical and translational neurology2025

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.

Mahboubeh Ahmadipour, Luigi M Romito, Antonio E Elia, Nico Golfré Andreasi, Roberto Eleopra, Alberto Mazzoni, Fabiana Colucci

Abstract read
In one paragraph

Article in Annals of clinical and translational 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. Genetic Etiologies of Dystonia with Anarthria/Aphonia.Movement disorders clinical practice · 2026
    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

7 authors.

Mahboubeh AhmadipourThe Biorobotics Institute, Scuola Superiore Sant'Anna, Pisa, Italy.ORCID 0000-0002-2190-0089
Luigi M RomitoMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0002-6772-1035
Antonio E EliaMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nico Golfré AndreasiMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Roberto EleopraMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Alberto MazzoniThe Biorobotics Institute, Scuola Superiore Sant'Anna, Pisa, Italy.
Fabiana ColucciMovement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Funding

Italian Ministry of Health GR-2009-1594645Italian Ministry of Research
6 · The paper itself

Abstract

objectiveBilateral globus pallidus pars interna deep brain stimulation (GPi-DBS) is a recognized and effective treatment option for drug-resistant dystonia patients. However, the clinical GPi-DBS outcomes vary significantly. Herein, we explored the pre-implant factors affecting GPi-DBS effectiveness.

methodsGenetic profiles, symptom distribution, age at onset, disease duration, and severity of a cohort of 31 GPi-DBS dystonia patients were collected. Dystonia motor severity was evaluated before and after GPi-DBS using the Burke-Fahn-Marsden Dystonia-Rating-Scale (BFMDRS-M). We assessed the interplay of the aforementioned factors in determining the BFMDRS-M improvement through a multilinear regression analysis.

resultsBFMDRS-M score showed a significant improvement (47.8%) since the first year, remaining stable at 5 years (54.3%). Lower limb (0.20), upper limb (0.16) and trunk (0.24) symptoms showed a significantly larger improvement compared to cranial symptoms (0.07, p < 0.05). Consequently, patients with more pronounced lower limb motor symptoms displayed a greater GPi-DBS effect (p < 0.01). However, pre-treatment localization of motor symptoms accounted only for 31% of the Inter-Patient Variability (IPV) in post-GPi-DBS improvement. Amelioration varied also across genetic profiles, with the largest improvement reported for DYT-TOR1A patients (n = 9, 64.2% in the first year), predicting 36% of IPV. Interestingly, combining motor and genetic profiles predicted 73% of the IPV. Including the clinical profile of the patient (age at onset, disease severity and duration) increased prediction accuracy to 81%.

interpretationOur results suggest that motor and genetic profiles contribute independently to the efficacy of the GPi-DBS treatment. These results may support a personalized prediction of DBS outcomes in dystonia patients.

Indexed as

Deep Brain StimulationDystoniaDystonic DisordersGlobus PallidusOutcome Assessment, Health CareAdolescentAdultFemaleHumansMaleMiddle AgedSeverity of Illness IndexYoung Adultdeep brain stimulationdystoniaoutcome predictorsvariability

Identifiers

PMID40539305
PMCPMC12343328

What Socratic holds

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LicenceCC BY-NC-ND
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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 Socratic graph.