Treffer: Uncovering Biomarkers in Pre-symptomatic Huntington's Disease Through Machine Learning

Huntington disease (HD) is a rare neurodegenerative fatal disorder. HD is caused by an autosomal dominant mutation in the Huntingtin protein causing extension of CAG repeats (1). Although this mutation was identified in 1993, no disease-modifying treatments are currently available; existing therapies only manage symptoms (1-3). To optimize treatment effectiveness before irreversible brain damage occurs, it is crucial to better understand early disease pathogenesis and to identify outcome measures that are sensitive to changes during the presymptomatic phase (2, 4). Currently, the early benefit of therapeutic interventions cannot be reliably assessed due to the lack of sensitive biomarkers capable of detecting subtle presymptomatic changes (2, 4, 5).