Objective:

To evaluate utility of 7-tesla magnetic resonance imaging (7T MRI) as a biomarker of CSR1R-Related Disorder (CSF1R-RD).

Background:

CSF1R-RD is a rapidly progressive neurodegenerative disease that leads to rapid decline and death within 5-7 years of symptom onset. As new therapeutic options for CSF1R-RD emerge, there is increasing interest in exploring the role of biomarkers in monitoring progression and predicting conversion from asymptomatic to symptomatic stages of the disease. 7T MRI is characterized by higher sensitivity in detecting radiological changes in patients with CSF1R-RD.

Design/Methods:

Five patients with heterozygous pathogenic variants of the CSF1R gene with a mean age of 40.4 years (range: 26-50) were enrolled in this study. Each patient underwent a neurological examination and a 7T MRI. Patients were accessed on baseline and every 6 and 12 thereafter. Patients had 2-4 scans depending on when they entered the study, for a total of 15 scans available. MRI images were scored using the Sundal scale.

Results:

During the observation period, three patients remained asymptomatic with an average Sundal score of 6 points. One symptomatic patient experienced a stabilization of symptoms, and his Sundal score remain stable, while another showed a clinical worsening; in the latter case, the Sundal score increased from 7 to 10 points.

Conclusions:

7T MRI correlated with clinical features of CSF1-RD. Further studies are needed to evaluate the sensitivity and specificity of 7T MRI in CSF1R-RD. Identification of a biomarker that can assess disease stage and risk of conversion to a symptomatic state is critical for optimizing preventive and disease-modifying therapies in this patient population.