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

Hiroyuki Akagawa; Hideaki Onda; Yosuke Moteki; Takatoshi Sorimachi; Ryoichi Saito; Atsuko Nihira; Takahiro Hori; Akikazu Nakamura; Makiko Terada; Takamura Nagasaka; Ayako Nagai; Tomohiro Aoki; Yuichi Kubota

doi:10.1177/17474930261449005

April 25, 2026International Journal of Stroke

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

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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.

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Implication

Examines prostacyclin synthase deficiency as a cause of recurrent cervical internal carotid artery vasospasm, suggesting a potential therapeutic target.

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Cite This Study

Akagawa et al. (2026) studied this question.

synapsesocial.com/papers/69eefde9fede9185760d4bc1 https://doi.org/10.1177/17474930261449005

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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