This website provides information on patients with mutations in the RNASET2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RNASET2 gene is a multisystem disorder characterized by an early-onset cystic leukoencephalopathy in humans. The disorder manifests as psychomotor delay, spasticity, epilepsy with normo- or microcephaly during the first year of life. Brain imaging reveals a characteristic pattern of abnormalities. Not all individuals with a mutation in the RNASET2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RNASET2 gene.

Jutta Gärtner, Univ.Prof., MD, PhD, Dept. Pediatrics and Adolescent Medicine, University Medical Centre Göttingen (UMG), Göttingen, Germany, Göttingen, Germany

Marco Henneke, Priv.-Doz., MD, PhD, Dept. Pediatrics and Adolescent Medicine, University Medical Centre Göttingen (UMG), Göttingen, Germany, hennekem@med.uni-goettingen.de

Matthias Kettwig, MD, PhD, Dept. Pediatrics and Adolescent Medicine, University Medical Centre Göttingen (UMG), Göttingen, Germany, matthias.kettwig@med.uni-goettingen.de