Evidence map›Paper›PMID 42033272›Full record

ArticleAnnals of clinical and translational neurology2026

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

Enrique Gonzalez Saez-Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y Lee, Lauren A Henderson, Milena M Andzelm and 1 more

Abstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Enrique Gonzalez Saez-DiezMovement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0009-0008-0031-2756
Monica Ferrer SocorroMovement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0009-0001-5887-4515
Kathryn YangMovement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0009-0004-6892-5189
Nicole BattagliaMovement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Zainab ZamanMovement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mariko BennettDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Adeline VanderverDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-6290-6751
Pui Y LeeDivision of Immunology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Lauren A HendersonDivision of Immunology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Milena M AndzelmNeuroimmunology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0000-0002-9189-1691
Darius Ebrahimi-FakhariMovement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0000-0002-0026-4714

Funding

Child Neurologist Career Development Program (CNCDP)K12NS098482 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI SCHLAGGAR, BRADLEY L · 2016 to 2025
$26.2M
Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang · 2019 to 2026
$14.3M
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - RDCRCU54NS148312 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Darius Ebrahimi-Fakhari, MICHAEL E. SHY · 2025 to 2026
$5.0M
Development of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic ParaplegiaK08NS123552 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI EBRAHIMI-FAKHARI, DARIUS · 2021 to 2025
$1.1M
NINDS NIH HHS 1U54NS148312NINDS NIH HHS 5K12NS098482NINDS NIH HHS K08 NS123552NINDS NIH HHS K08NS123552NINDS NIH HHS K12 NS098482NINDS NIH HHS U54 NS115052NINDS NIH HHS U54 NS148312
6 · The paper itself

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.

Indexed as

Antibodies, Monoclonal, HumanizedAutoimmune Diseases of the Nervous SystemImmunomodulationMovement DisordersNervous System MalformationsPyrazolesSulfonamidesAdolescentChildChild, PreschoolFemaleHumansMalePurinesRetrospective StudiesAntibodies, Monoclonal, HumanizedPurinesPyrazolesSulfonamidesAicardi–Goutières syndromechildhood‐onset movement disordersdystoniaimmunomodulationtype I interferonopathies

Identifiers

PMID42033272
PMCPMC13395044

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.