Neuroimaging in Aicardi- GoutiSres syndrome Biomarkers for a progressive encephalopathy

作者：Uzgil Besim; Sherr Elliott H^*

来源：Neurology, 2016, 86(1): 15-16.

DOI：10.1212/WNL.0000000000002227

In 1984, 2 pediatric neurologists, Jean Aicardi and Francoise Goutieres, published their seminal case report of 8 patients (from 5 families) with a devastating neonatal encephalopathy characterized by striking cerebral calcifications, white matter hypodensities, visualized on CT, accompanied by a persistent CSF lymphocytosis.(1) Notably, the neuroradiologic findings suggested a perinatal toxoplasmosis, other (syphilis, varicella-zoster, parvovirus b19), rubella, cytomegalovirus, and herpes (TORCH) infection, and these patients often have an elevation of interferon- in the CSF.(2,3) Three decades of highly productive clinical and scientific investigation of Aicardi-Goutieres syndrome (AGS) has led to the discovery of 7 causative genes and the realization that mutation in any of these leads to a genetically mediated autoimmune response to nucleic acid metabolism, analogous to systemic lupus erythematosus, in the developing brain.(4</SUP)

• 出版日期2016-1-5