Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders

Area of Science:

• Neuroscience
• Biomarker Discovery
• Genetics

Background:

• Colony-Stimulating Factor 1 Receptor-Related Disorders (CSF1R-RD) are rare genetic conditions.
• Identifying reliable biomarkers is crucial for early diagnosis and effective treatment monitoring.

Purpose of the Study:

• To identify fluid and neuroimaging biomarkers for CSF1R-RD.
• To inform optimal treatment timing and monitor disease progression.

Main Methods:

• Compared plasma and cerebrospinal fluid (CSF) biomarkers in asymptomatic carriers, symptomatic carriers, and healthy controls.
• Correlated biomarkers with clinical scales (MoCA, CCSS) and cortical thickness via MRI.

Main Results:

• Plasma GFAP effectively distinguishes early-stage CSF1R-RD patients from controls.
• Plasma NfL is more sensitive for tracking disease progression after symptom onset.

Conclusions:

• Plasma NfL and GFAP are valuable biomarkers for early symptom onset and disease progression in CSF1R-RD.
• These biomarkers can aid in clinical management and therapeutic strategies.