Evidence map›Paper›PMID 37016359›Full record

ArticleBMC neurology2023

Association of polygenic risk score with response to deep brain stimulation in Parkinson's disease.

Esther Yoon, Sarah Ahmed, Ryan Li, Sara Bandres-Ciga, Cornelis Blauwendraat, Irene Dustin, Sonja Scholz, Mark Hallett, Debra Ehrlich

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

Article in BMC neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026
    Review
  3. Article
  4. Parkinson's Disease is Predominantly a Genetic Disease.Journal of Parkinson's disease · 2024
    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

9 authors at 3 institutions in 1 country.

Esther YoonParkinson's Disease Clinic, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, 7D37 10 Center Dr, Bethesda, MD, USA.
Sarah AhmedNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Ryan LiParkinson's Disease Clinic, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, 7D37 10 Center Dr, Bethesda, MD, USA.
Sara Bandres-CigaMolecular Genetics Section, Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA.
Cornelis BlauwendraatMolecular Genetics Section, Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA.
Irene DustinParkinson's Disease Clinic, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, 7D37 10 Center Dr, Bethesda, MD, USA.
Sonja ScholzNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Mark HallettHuman Motor Control Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Debra EhrlichParkinson's Disease Clinic, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, 7D37 10 Center Dr, Bethesda, MD, USA. debra.ehrlich@nih.gov.ORCID http://orcid.org/0000-0002-2663-6766
National Institute of Neurological Disorders and Stroke · USNational Institute on Aging · USJohns Hopkins University · US

Funding

Pathophysiology of Basal Ganglia DisordersZIANS003031 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI HALLETT, MARK · 2009 to 2023
$22.7M
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
6 · The paper itself

Abstract

backgroundDeep brain stimulation (DBS) is a well-established treatment option for select patients with Parkinson's Disease (PD). However, response to DBS varies, therefore, the ability to predict who will have better outcomes can aid patient selection. Some PD-related monogenic mutations have been reported among factors that influence response to DBS. However, monogenic disease accounts for only a minority of patients with PD. The polygenic risk score (PRS) is an indication of cumulative genetic risk for disease. The PRS in PD has also been correlated with age of onset and symptom progression, but it is unknown whether correlations exist between PRS and DBS response. Here, we performed a pilot study to look for any such correlation.

methodsWe performed a retrospective analysis of 33 PD patients from the NIH PD Clinic and 13 patients from the Parkinson's Progression Markers Initiative database who had genetic testing and underwent bilateral subthalamic nucleus DBS surgery and clinical follow-up. A PD-specific PRS was calculated for all 46 patients based on the 90 susceptibility variants identified in the latest PD genome-wide association study. We tested associations between PRS and pre- and post-surgery motor and cognitive measures using multiple regression analysis for up to two years after surgery.

resultsChanges in scores on the Beck Depression Inventory (BDI) were not correlated with PRS when derived from all susceptibility variants, however, when removing pathogenic and high-risk carriers from the calculation, higher PRS was significantly associated with greater reduction in BDI score at 3 months and with similar trend 24 months after DBS. PRS was not a significant predictor of Unified Parkinson's Disease Rating Scale, Dementia Rating Scale, or phenomic and semantic fluency outcomes at 3- and 24-months after DBS surgery.

conclusionsThis exploratory study suggests that PRS may predict degree of improvement in depressive symptoms after DBS, though was not predictive of motor and other cognitive outcomes after DBS. Additionally, PRS may be most relevant in predicting DBS outcomes in patients lacking pathogenic or high-risk PD variants. However, this was a small preliminary study and response to DBS treatment is multifactorial, therefore, more standardized high-powered studies are needed.

Indexed as

Deep Brain StimulationParkinson DiseaseGenome-Wide Association StudyHumansPilot ProjectsRetrospective StudiesTreatment OutcomeDeep brain stimulationParkinson’s diseasePolygenic risk score

Identifiers

PMID37016359
PMCPMC10071605
OpenAlexW4362555056

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.