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April 27, 2026International Journal of Stroke0 citations

Biallelic loss-of-function variants in PTGIS cause recurrent cervical internal carotid artery vasospasm

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HAHiroyuki AkagawaHOHideaki OndaYMYosuke Moteki

Key Points

  • The study aims to understand how biallelic loss-of-function variants in PTGIS lead to cervical internal carotid artery vasospasm.
  • Analyzing genetic variants in affected individuals
  • Assessing prostacyclin levels and vasodilatory function
  • Prostacyclin synthase deficiency is identified as the core pathology for recurrent cervical internal carotid artery vasospasm.
  • Impaired biosynthesis of prostacyclin correlates with increased risk of severe stroke and angina.

Abstract

The results indicate that prostacyclin synthase deficiency is the core pathology of RCICAV. Given that prostacyclin is a potent vasodilator, impaired biosynthesis is consistent with the disease mechanism and may serve as a promising therapeutic target to prevent life-threatening events, including severe stroke and angina.

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Cite This Study

Akagawa et al. (2026) studied this question.

synapsesocial.com/papers/69eefde9fede9185760d4bc1https://doi.org/10.1177/17474930261449005
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