Investigators at University of Manchester, UK, and multiple international centers studied interferon-related biomarkers in patients with Aicardi-Goutieres syndrome (AGS). Of 82 patients with AGS, 74 (90%) had a positive interferon score. The measurement of an interferon score might be used to assess efficacy of anti-inflammatory therapy. [1]
COMMENTARY. Aicardi-Goutieres syndrome is an early-onset familial encephalopathy characterized by brain atrophy, microcephaly, spasticity, dystonia, psychomotor retardation, chronic CSF lymphocytosis, basal ganglia calcification, autoimmune disorders such as chilblains (pernio), and increased interferon-alpha in the CSF and serum [2, 3]. High mortality in the first year is common. An early active stage of the disease followed by a period of attenuation correlates with higher levels of interferon activity in infancy and lower levels with increasing age.