Article
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Arthritis and rheumatism - 1 May 2010
Ramantani Georgia, Kohlhase Jürgen, Hertzberg Christoph, Innes A Micheil, Engel Kerstin, Hunger Susan, Borozdin Wiktor, Mah Jean K, Ungerath Kristina, Walkenhorst Hartmut, Richardt Hans-Helmut, Buckard Johannes, Bevot Andrea, Siegel Corinna, von Stülpnagel Celina, Ikonomidou Chrysanthy, Thomas Kara, Proud Virginia, Niemann Frank, Wieczorek Dagmar, Häusler Martin, Niggemann Pascal, Baltaci Volkan, Conrad Karsten, Lebon Pierre, Lee-Kirsch Min Ae
Abstract excerpt
OBJECTIVE: Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is characterized by basal ganglia calcifications, loss of white matter, cerebrospinal fluid (CSF) lymphocytosis, and elevated interferon-alpha levels in the CSF. Studies have shown that AGS is an autosomal-recessive disease linked to mutations in 5 genes, encoding the 3'-repair DNA exonuclease 1...
Topics
- Adolescent
- Adult
- Autoimmune Diseases of the Nervous System
- Brain Diseases
- Child
- Child, Preschool
- Dystonia
- Exodeoxyribonucleases