• Alberto Izzotti, Mariagrazia Longobardi, Cristina Cartiglia, Francesco Anzuini, Patrizio Arrigo, Elisa Fazzi, Simona Orcesi, Roberta La Piana, and Alessandra Pulliero.
• Department of Health Sciences, University of Genoa, Genoa, 16132, Italy. izzotti@unige.it
• J. Child Neurol. 2012 Jan 1;27(1):51-60.

AbstractAicardi-Goutières syndrome is a rare encephalopathy of mutational origin characterized by increased levels of interferon alpha in cerebrospinal fluid. The aim of this study was to explore the influence of different Aicardi-Goutières syndrome genotypes on the clinical course of patients, seeking to identify specific gene expression profiles able to explain Aicardi-Goutières syndrome phenotype differences. We detected the occurrence of Aicardi-Goutières syndrome mutations in 21 patients and compared microarray gene-expression data of cerebrospinal fluid lymphocytes with clinical variables. The levels of interferon alpha in cerebrospinal fluid were high in all patients; we found differences in the expression of genes encoding for Toll-like receptor, endogenous RNases, T lymphocyte activation, angiogenesis inhibition, and peripheral interferon alpha production. These results indicate that further to interferon alpha production in the central nervous system, a variety of other pathogenic mechanisms is activated in Aicardi-Goutières syndrome to various degrees in different patients, thus explaining the interindividual difference in Aicardi-Goutières syndrome course.

28 keywords...

hide…