Abstract Details

Title Evaluating the Utility of Biomarker in Assessing Symptoms of Patients with CSF1R-related Disorders

Topic Movement Disorders

Presentation(s) P8 - Poster Session 8 (8:00 AM-9:00 AM)

Poster/Presentation
Number 5-017

Objective To assess correlation between biomarker level and clinical status of individuals with pathogenic CSF1R variants.

Background Colony-stimulating factor-1 receptor (CSF1R)-related disorders are rapidly progressive neurodegenerative disorder. Recent advancements have introduced potential symptomatic and prophylactic treatment options, leading to increased interest in biomarkers. These biomarkers could play a crucial role in monitoring disease progression and assessing the effectiveness of therapies.

Design/Methods Biomarkers were evaluated in 31 individuals with pathogenic CSF1R variants (including 17 symptomatic and 14 asymptomatic) and 30 controls. The biomarkers tested included M-CSF, IL-34, NFL, GFAP, and osteopontin in both plasma and cerebrospinal fluid (CSF). All patients with CSF1R mutations underwent a structured neurological examination and clinical data were correlated with biomarker levels.

Results Plasma and CSF NFL levels were elevated in symptomatic patients compared to asymptomatic and control subjects (62.1±25.3 vs. 8.5±2.9 and 7.3±3.8 pg/ml; p>0.001 for plasma NFL and 3702.0±3107.9 pg/ml vs. 465.8±196. 7 and 537.8±321.0; p=0.0193), NFL level correlated with clinical data based on neurological examination with correlation coefficients of r=0.9759 (p<0.001) for plasma and r=0.9135 (p<0.001) for CSF level. NFL level showed strong correlation with MoCA score r=0.9005 (p<0.001) for plasma and r=0.9089 (p<0.001) for CSF level. CSF IL34 levels were higher in patients with CSF1R mutations (167.5±113 (symptomatic) and 124.2±59.6 (symptomatic) vs. 57.7±19.2pg/ml, p=0.001), similarly CSF M-CSF levels were elevated in patients with CSF1R mutations (14.0±4.38 and 8.9±2.8 vs. 5.5±1.6pg/ml; p=0.009).

Conclusions Plasma and CSF NFL levels appear to be reliable biomarkers for assessing clinical status and could potentially be used to monitor disease progression and treatment efficacy. Additionally, CSF IL-34 and M-CSF levels may serve as useful indicators for distinguishing between carriers of pathogenic CSF1R variants and control subjects.

Authors/Disclosures
Tomasz Chmiela, MD PRESENTER	Dr. Chmiela has nothing to disclose.
Mercedes Prudencio, PhD	Prof. Prudencio has received research support from Novoglia.
Leonard Petrucelli, PhD (Personal)	Dr. Petrucelli has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Expansion Therapeutics. Dr. Petrucelli has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Science Translational Medicine. The institution of Dr. Petrucelli has received research support from Novoglia. The institution of Dr. Petrucelli has received research support from Biogen. Dr. Petrucelli has received intellectual property interests from a discovery or technology relating to health care. Dr. Petrucelli has received intellectual property interests from a discovery or technology relating to health care.
Zbigniew K. Wszolek, MD, FAAN (Mayo Clinic- Jacksonville)	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.

��ɫ��

��ɫ��