The natural history of Aicardi–Goutières syndrome: Follow-up of 11 Italian patients

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Abstract
Described are the outcomes of 11 Italian patients with Aicardi–Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-α measurements (three patients) showed reduced CSF interferon-α levels.

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