Matthias Kettwig, Katharina Ternka, Kristin Wendland, Dennis Manfred Krüger, Silvia Zampar, Charlotte Schob, Jonas Franz, Abhishek Aich, Anne Winkler, M Sadman Sakib, Lalit Kaurani, Robert Epple, Hauke B Werner, Samy Hakroush, Julia Kitz, Marco Prinz, Eva Bartok, Gunther Hartmann, Simone Schröder, Peter Rehling, Marco Henneke, Susann Boretius, A Alia, Oliver Wirths, Andre Fischer, Christine Stadelmann, Stefan Nessler, Jutta Gärtner
Infantile-onset RNaseT2 deficient leukoencephalopathy is characterised by cystic brain lesions, multifocal white matter alterations, cerebral atrophy, and severe psychomotor impairment. The phenotype is similar to congenital cytomegalovirus brain infection and overlaps with type I interferonopathies, suggesting a role for innate immunity in its pathophysiology. To date, pathophysiological studies have been hindered by the lack of mouse models recapitulating the neuroinflammatory encephalopathy found in patients...
November 11, 2021: Nature Communications