Biomarker Data for Aicardi–Goutières Syndrome: Plasma NfL and GFAP Levels in 55 Patients

55 patients with genetically confirmed Aicardi–Goutières syndrome (AGS) and 55 matched healthy controls had plasma neurofilament light chain (pNfL) and glial fibrillary acidic protein (pGFAP) levels analyzed using single molecule array assays. The dataset, authored by Lisa Wege and last updated in April 2026, includes longitudinal samples from 11 patients before and during JAK inhibitor therapy. It was published on figshare under a CC-BY-4.0 license.

Use Cases

• Correlating plasma biomarker levels with clinical disease severity in Aicardi–Goutières syndrome.
• Comparing biomarker sensitivity to the interferon score for capturing neuroaxonal damage.
• Analyzing longitudinal changes in pNfL and pGFAP in response to JAK inhibitor therapy.
• Investigating the relationship between neurofilament light chain and glial fibrillary acidic protein as indicators of neuroinjury.

Strengths

• Includes data from 55 patients and 55 age- and sex-matched healthy controls, providing a comparison group.
• Contains longitudinal samples from 11 patients, allowing for within-patient analysis of treatment effects.
• Biomarker levels were measured using single molecule array assays, a sensitive detection method.

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download.
• The dataset is small (810.5 KB), which may limit statistical power for some analyses.
• Data may reflect bias inherent to the specific patient cohort studied for this rare syndrome.

Provenance

Source

Lisa Wege, via figshare.

Collection Method

Plasma samples analyzed using single molecule array assays.

Time Range

The temporal coverage of sample collection is not specified.

Freshness

Last updated 2026-04-15 05:26:01; freshness should be verified.

Geography

The geographic origin of the patient and control samples is not specified.