Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
Year: 2026
Type: article
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.
DOI: 10.1002/acn3.70407
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $4,100
Awards: G4360168283, G6561435196, Development of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic Paraplegia, Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - RDCRC, Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)
OpenAlex ID: W7155607856