Mice with the same mutation in their DNA as RVCL-S patients were studied to learn more about the disorder. The life expectancy of the mice was decreased. Furthermore, the function of the blood vessels was impaired and strokes led to more damage then in healthy mice. Researchers have published about this in the journal Stroke. For more information click here.

Researchers at the LUMC have described the abnormities that are found in the brain in RVCL-S patients. It is their hope that this will help physicians recognize the disorder. This will help speed up the diagnostic process and prevent unnecessary potentially harmful testing. The results have been published in medical journal American Journal of Neuroradiology. The whole article is available here.  

To increase knowledge about RVCL-S across the globe, researchers at the LUMC have written an article for UpToDate. Information about symptoms, complications and guidelines for genetic testing and treatment are discussed. The complete article can be read at UpToDate.

Cerebrovascular reactivity is decreased in RVCL-S patients. Researchers at the LUMC concluded this after an MRI study. The article has been published in the Journal of Cerebral Blood flow & Metabolism. The complete article can be read here.

A review for physicians and other care providers about RVCL-S has been published on GeneReviews. Information about symptoms, differential diagnosis and guidelines for genetic testing and treatment are discussed. On GeneReviews you can read the article.