Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology 2026 Open access

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Authors: Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, P J McKiernan W S Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari
DOI: 10.1002/acn3.70407
Cited by: 1
References: 11

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.

Fields of Study & Subjects

interferon and immune responses Oropharyngeal Anatomy and Pathologies Ocular Diseases and Behçet’s Syndrome

Publication details

Journal / source
Annals of Clinical and Translational Neurology
Publisher
Wiley
Volume
13
Issue
8
Pages
1702–1710
Publication date
25 April 2026
Language
EN