Ruxolitinib in Aicardi-Goutières syndrome

Eleonora Mura, Silvia Masnada, Clara Antonello, Cecilia Parazzini, Giana Izzo, Jessica Garau, Daisy Sproviero, Cristina Cereda, Simona Orcesi, Pierangelo Veggiotti, Gianvincenzo Zuccotti, Dario Dilillo, Francesca Penagini, Davide Tonduti

Research output: Contribution to journalArticlepeer-review


Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an inflammatory cytokine which action is mediated by the activation of two of the four human Janus Kinases. Thanks to an ever-increasing knowledge of the molecular basis and pathogenetic mechanisms of the disease, Janus Kinase inhibitors (JAKIs) have been proposed as a treatment option for selected interferonopathies. Here we reported the 24 months follow-up of the fifth AGS patient treated with ruxolitinib described so far in literature. The treatment was globally well tolerated; clinical examinations and radiological images demonstrated a progressively improving course. It is however to note that patients presenting with mild and spontaneously improving course have been reported. Large natural history studies on AGS spectrum are strongly required in order to get a better understanding of the results emerging from ongoing therapeutic trials on such rare disease.

Original languageEnglish
Pages (from-to)859-863
Number of pages5
JournalMetabolic Brain Disease
Issue number5
Publication statusPublished - Jun 2021


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