1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2014-28-1-6 10.15844/pedneurbriefs-28-1-6 Encephalopathies Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Interferon Biomarkers in Aicardi-Goutieres Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * http://orcid.org/0000-0002-0798-0131 Millichap John J. MD 1 2 Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 01 2014 31 10 2015 28 1 5 5 Copyright: © 2014 The Author(s) 2014 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1 (and any of six genes): a case-control study

Investigators at University of Manchester, UK, and multiple international centers studied interferon-related biomarkers in patients with Aicardi-Goutieres syndrome (AGS).

 Aicardi-Goutieres Chronic CSF Lymphocytosis Basal Ganglia Calcification

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.

Rice GI Forte GM Szynkiewicz M Chase DS Aeby A Abdel-Hamid MS Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1 (and any of six genes): a case-control study Lancet Neurol 2013 Dec 12 12 1159 69 10.1016/S1474-4422(13)70258-8 24183309 Aicardi J Goutieres F A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis Ann Neurol 1984 Jan 15 1 49 54 10.1002/ana.410150109 6712192 Stephenson JB Aicardi-Goutières syndrome (AGS) Eur J Paediatr Neurol 2008 Sep 12 5 355 8 10.1016/j.ejpn.2007.11.010 18343173