Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.

Abstract

This study characterizes movement disorders and treatment responses in seven children with Aicardi-Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7. GMFCS levels ranged from I to V. Following immunomodulation, interferon signatures normalized in 6/7 of patients, and 6/7 showed clinical stabilization or improvement, with no further regression events. These findings indicate that targeted therapy was associated with reduced systemic inflammation and stabilized disease. However, motor outcomes varied, suggesting that established CNS injury may limit functional recovery despite a biochemical response.