Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Autor: Daniel P. Joseph, Paulus T. V. M. de Jong, Todd A. Hardy, John P. Atkinson, Rula A. Hajj-Ali, Martin Dichgans, Parul H. Kothari, Aisha Shaikh, Elizabeth M. Brunt, M. Gilbert Grand, Suzanne Hodgkinson, Arn M. J. M. van den Maagdenberg, Michael Hayes, Grant R. Kolar, Marc D. de Smet, Andreas Gschwendter, Ingeborg M. Bajema, Gisela M. Terwindt, Rune R. Frants, Greet Dijkman, Mark C. Kruit, Anine H. Stam, Didi De Wolff-Rouendaal, Mark A. van Buchem, Joanna C. Jen, Michel D. Ferrari, Sjoerd G. van Duinen, Robert W. Baloh, Katya E. Kotschet, Joost Haan, Robert E. Schmidt, David R. Fintak, Nadine Pelzer, Peter A. Kempster, Helen Liapis, Marion L.C. Maat-Schieman, Jo Anne Lacey

Publikováno v: Brain: a journal of neurology, 139, 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press

Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused

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https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608