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.

Method: Eight patients, 3 symptomatic and 5 asymptomatic with mean age of 43.7±14.0 years with heterozygous pathogenic variants of the CSF1R gene were assessed using 7T MRI. MRI images were scored using the Sundal scale. Patients were accessed on baseline and every 6 and 12 thereafter. Patients had 1-5 scans depending on when they entered the study, for a total of 22 scans available. During these visits patients underwent structured neurological and neuropsychological assessment.

Results: During the observation period, five patients remained asymptomatic. Among the three symptomatic patients, one exhibited clinical and radiological worsening, one stabilized, and one had only a single scan available. The mean Sundal score did not differ significantly between symptomatic and asymptomatic patients (5.33±3.91 vs. 5.23±1.92, p=0.357). However, in symptomatic patients, the Sundal score showed a strong correlation with both the clinical score (p<0.001) and the MoCA (p<0.001).

Conclusion: 7T MRI has shown a correlation with the clinical features of CSF1R-related disorders (CSF1R-RD). It holds significant potential for the evaluation and monitoring of CSF1R-RD. When assessing asymptomatic patients, it is important to consider that white matter changes may occur during the preclinical period of CSF1R-RD or may be attributed to other causes.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/role-of-7-tesla-mri-in-assessing-clinical-symptoms-in-csf1r-related-disorders/