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Abstract Details

7-Tesla Brain MRI as A Biomarker of Disease Onset and Progression in CSF1R Mutation Carriers – Preliminary Report
Aging, Dementia, and Behavioral Neurology
P1 - Poster Session 1 (8:00 AM-9:00 AM)
9-016

To investigate the potential application of 7-Tesla (T) MRI as a biomarker of disease onset and progression in CSF1R mutation carriers.
CSF1R-related disorder (CSF1R-RD) is a hereditary neurodegenerative disease with rapid progression and death ensuing within few years from onset. Disease-modifying treatment is already available, and recently, glucocorticoid use as preventive therapy was reported. However, there are no biomarkers available to monitor conversion from asymptomatic to symptomatic stage, as well as disease progression in CSF1R mutation carriers.
Three heterozygous carriers (females n=2) of CSF1R pathogenic mutations at a mean age of 41 years (range 26-50 years) and positive family history for the late-onset (≥18 years) form of CSF1R-RD were recruited and assessed with clinical measures and 7T brain MRI at baseline and at 6-month follow-up. Sundal's MRI scale was used to quantify neuroimaging findings.

The clinical and radiological evaluations were performed at a mean interval of 5 months. During the follow-up period, two individuals remained asymptomatic, whereas one individual progressed in the clinical measures. The Sundal’s MRI scale score remained stable in the two asymptomatic individuals with a mean score of 6 points, whereas it progressed in the symptomatic individual from 8 to 10 points.
The 7-Tesla MRI findings correlate well with the clinical measures of the CSF1R-RD both at the asymptomatic and symptomatic stages. Further research is warranted to assess the sensitivity and specificity of 7T MRI findings. Identification of biomarkers of CSF1R-RD would help timely application of preventive and disease-modifying therapy.
Authors/Disclosures
Zbigniew K. Wszolek, MD, FAAN (Mayo Clinic- Jacksonville)
PRESENTER 		Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica. Dr. Wszolek has received intellectual property interests from a discovery or technology relating to health care.
Erik Middlebrooks Erik Middlebrooks has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Boston Scientific Corp. Erik Middlebrooks has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Siemens Healthineers. Erik Middlebrooks has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Journal of Neuroradiology.
Jaroslaw Dulski, MD, PhD Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for VM Media Ltd.. Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Radoslaw Lipinski 90 Consulting. Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Ipsen. Dr. Dulski has received research support from Polish Neurological Society. Dr. Dulski has received research support from Polish National Agency for Academic Exchange. Dr. Dulski has received intellectual property interests from a discovery or technology relating to health care.