Neurofilament light protein as a blood biomarker for Huntington’s disease in children
2021
Juvenile-onset Huntington9s disease (JoHD) is a rare, particularly devastating form of Huntington9s 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.
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