Evidence map›Paper›PMID 40026236›Full record

ReviewAnnals of neurology2025

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.

Ugo Sorrentino, Audrey G O'Neill, Justin M Kollman, Hyder A Jinnah, Michael Zech

Abstract readReview
In one paragraph

Review in Annals of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Dystonia: Insights into Mechanisms and Novel Therapeutics.Current neurology and neuroscience reports · 2026
    Review
  3. An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somite organization.Proceedings of the National Academy of Sciences of the United States of America · 2025
    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

5 authors.

Ugo SorrentinoInstitute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Audrey G O'NeillDepartment of Biochemistry, University of Washington, Seattle, WA.
Justin M KollmanDepartment of Biochemistry, University of Washington, Seattle, WA.
Hyder A JinnahDepartments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA.
Michael ZechInstitute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.ORCID 0000-0001-8112-9153

Funding

Else Kröner-Fresenius-Stiftung 2022_EKSE.185Federal Ministry of Education and ResearchGerman Federal Ministry of Education and Research 01GM2302German Research Foundation DFG 458949627German Research Foundation ZE 1213/2-1
6 · The paper itself

Abstract

Dystonia research focuses on the identification of converging biological pathways, allowing to define molecular drivers that serve as treatment targets. We summarize evidence supporting the concept that aberrations in purine metabolism intersect with dystonia pathogenesis. The recent discovery of IMPDH2-related dystonia introduced a gain-of-function paradigm in purinergic system defects, offering new perspectives to understand purine-pool imbalances in brain diseases. We discuss commonalities between known dystonia-linked mechanisms and mechanisms emerging from studies of purine metabolism disorders including Lesch-Nyhan disease. Together, we hypothesize that a greater appreciation of the relevance of purine perturbances in dystonia can offer fresh avenues for therapeutic intervention. ANN NEUROL 2025;97:809-825.

Indexed as

DystoniaDystonic DisordersPurinesAnimalsHumansLesch-Nyhan SyndromepurinePurines

Identifiers

PMID40026236
PMCPMC12010064

What OpenQuestion holds

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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 OpenQuestion graph.