Evidence map›Paper›PMID 40362326›Full record

SynthesisInternational journal of molecular sciences2025

Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes

Jon Rodriguez-Antiguedad, Rajasumi Rajalingam, Clara Krüger, Daniel Teixeira-Dos-Santos, Christine Sun, Elias Fernandez-Toledo, Alexia Duarte, Paula Saffie-Awad, Matthew J Barrett, Joseph L Flanigan and 16 more

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in International journal of molecular sciences, 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. 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

26 authors.

Jon Rodriguez-AntiguedadMovement Disorders Unit, Sant Pau Hospital, 08041 Barcelona, Spain.ORCID 0000-0002-9316-1772
Rajasumi RajalingamDepartment of Psychiatry, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI 49008, USA.ORCID 0000-0002-2564-7375
Clara KrügerInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Daniel Teixeira-Dos-SantosDepartment of Neurology, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.ORCID 0000-0003-0182-424X
Christine SunMorton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada.
Elias Fernandez-ToledoFacultad de Medicina, Pontificia Universidad Católica de Chile, Santiago 7820436, Chile.
Alexia DuarteDepartment of Internal Medicine, Health Sciences Sector, Federal University of Paraná, Curitiba 81531-980, Brazil.ORCID 0000-0003-3985-2529
Paula Saffie-AwadClínica Santa María, Santiago 7520349, Chile.ORCID 0000-0002-8056-365X
Matthew J BarrettDepartment of Neurology, Virginia Commonwealth University, Richmond, VA 23220, USA.
Joseph L FlaniganDepartment of Neurology, University of Virginia, Charlottesville, VA 22903, USA.
Maziar EmamikhahMorton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada.
Neepa PatelRUSH Parkinson's Disease and Movement Disorders Program, Department of Neurological Sciences, RUSH University Medical Center, Chicago, IL 60612, USA.
Marta San LucianoDepartment of Neurology, University of California San Francisco, San Francisco, CA 94143, USA.
Christine CooperDepartment of Neurology, Medical University of South Carolina, Charleston, SC 29425, USA.ORCID 0000-0003-0722-5272
Natascha BahrInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Odinachi OguhCleveland Clinic Luo Rico Center of Brain Health, Las Vegas, NV 89106, USA.
Alissa BuhrmannInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Merle VaterInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Rabea FuchshofenInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Franca VulinovicInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Maik-Iven ParreidtInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Anne WeissbachCenter for Rare Diseases, University Clinic of Schleswig-Holstein, Campus Lübeck, 23538 Lübeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Christine KleinInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Connie MarrasMorton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada.
Sarah CamargosMovement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital das Clínicas, The Federal University of Minas Gerais, Belo Horizonte 30130-100, Brazil.ORCID 0000-0001-9829-6783

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype-phenotype correlations of

Indexed as

Cation Transport ProteinsDopamine Plasma Membrane Transport ProteinsDystoniaDystonic DisordersGroup VI Phospholipases A2Parkinsonian DisordersGenetic Association StudiesHumansMutationPhenotypePlasma Membrane Neurotransmitter Transport ProteinsCation Transport ProteinsDopamine Plasma Membrane Transport ProteinsGroup VI Phospholipases A2PLA2G6 protein, humanPlasma Membrane Neurotransmitter Transport ProteinsSLC30A10 protein, humanSLC39A14 protein, humanSLC6A3 protein, humandystoniaGLB1MDSGeneparkinsonismPLA2G6SLC30A10SLC39A14SLC6A3

Identifiers

PMID40362326
PMCPMC12071818

What Socratic 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 Socratic graph.