Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship DOI Creative Commons
Ugo Sorrentino, Audrey G. O’Neill, Justin M. Kollman

et al.

Annals of Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: March 3, 2025

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

Language: Английский

BCL11B-related disease: a single phenotypic entity? DOI Creative Commons
Juliana Heather Vedovato dos Santos, Rebecca S. Tooze,

Sivagamy Sithambaram

et al.

European Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: March 3, 2025

Language: Английский

Citations

1
Family with BCL11B Related Dystonia and Movement Disorders DOI Open Access
Jaclyn M. Martindale,

Leah Chapman,

Virginia Lane

et al.

Movement Disorders Clinical Practice, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 10, 2025

Language: Английский

Citations

0
Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship DOI Creative Commons
Ugo Sorrentino, Audrey G. O’Neill, Justin M. Kollman

et al.

Annals of Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: March 3, 2025

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

Language: Английский

Citations

0