A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages

Mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene are responsible for pseudoxanthoma elasticum (PXE). PXE is a rare genetic metabolic disease with autosomal recessive inheritance that shows ectopic mineralization in skin, eyes and blood vessels, and causes cerebrovascular disease. There are few reports of intracranial hemorrhages in patients with the ABCC6 mutation. We report the first Japanese case with a heterozygous ABCC6 mutation displaying recurrent ischemic strokes and intracranial hemorrhages. We propose that the ABCC6 mutation may be one cause of neurovascular diseases with a family history.

This is the peer reviewed version of the following article: [Nomura, E, Kawahara, Y, Omote, Y, et al. A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages. Neurol Clin Neurosci. 2022; 00: 1– 4. doi:10.1111/ncn3.12575], which has been published in final form at https://doi.org/10.1111/ncn3.12575. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages there of by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.