Neurofilament light protein as a blood biomarker for Huntington’s disease in children

Juvenile-onset Huntington’s disease (JoHD) is a rare, particularly devastating form of Huntington’s Disease (HD) for which clinical diagnosis is challenging and robust outcome measures are lacking. Neurofilament light protein (NfL) in plasma has emerged as a prognostic biomarker for adult-onset HD. We report that plasma NfL is elevated in JoHD and premanifest HD mutation-carrying children. Quantifying plasma NfL may improve clinical diagnosis and therapeutic trial design in the pediatric population.