<B DATA-OLK-COPY-SOURCE="MESSAGEBODY">MULTIMODAL ASSESSMENT OF HUNTINGTON’S DISEASE PATIENTS FOR BIOMARKER DISCOVERY</B>

We have applied a framework to integrate multimodal data obtained from in HD patients and control subjects as part of an ongoing longitudinal study that included oculomotor analysis (retina imaging, optical and oculomotor measurements), multiomic blood profiling (DNA methylation from Infinium MethylationEPIC beadchips and circulomics from ONT sequencing of circulating-free DNA) and functional capabilities (based on Unified HD Rate Scales -UHDRS). The most relevant results up to date are altered performance of pursuit and saccadic eye movements (subjective NSUCO test and quantifiable Eye-Tracking system), altered binocular vision (near fusional vergences recovery) and altered contrast sensitivity and colour vision, which correlated with Total Motor Score (TMS), Total Functional Capacity (TFC) and Functional Assessment (FA). We also detected highly specific patterns for CpG methylation and circulating genomic regions in HD patients compared to controls and to Myotonic Dystrophy type 1, another expansion disorder.
Oculomotor analysis in HD mutation carriers should be considered in clinical evaluation, which does not require sophisticated equipment, whereas blood profiling beyond conventional transcriptomics can provide novel biomarkers that can be easily implemented into the clinics.
Funding: CNS2022-136169 (MICIU-NextGenerationEU), PI23/01858 (ISCIII-ERDF) and 2024/C/6, 2025/C.1/5, 2025/C.1/16 (ISABIAL)