Neurofilament Light Protein as a Potential Blood Biomarker for Huntington's Disease in Children

Background Juvenile-onset Huntington's disease (JOHD) is a rare and 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. Methods We performed a retrospective analysis of samples and data collected between 2009 and 2020 from the Kids-HD and Kids-JHD studies. Plasma samples from children and young adults with JOHD, premanifest HD (preHD) mutation carriers, and age-matched controls were used to quantify plasma NfL concentrations using ultrasensitive immunoassay. Results We report elevated plasma NfL concentrations in JOHD and premanifest HD mutation-carrying children. In pediatric HD mutation carriers who were within 20 years of their predicted onset and patients with JOHD, plasma NfL level was associated with caudate and putamen volumes. Conclusions Quantifying plasma NfL concentration may assist clinical diagnosis and therapeutic trial design in the pediatric population. (c) 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

Automated summary

This study retrospectively analyzed plasma NfL concentrations in juvenile-onset Huntington's disease (JOHD) patients and Huntington's disease gene mutation carriers, finding increased concentrations in these populations. Additionally, quantifying plasma NfL levels can assist in clinical diagnosis and therapeutic trial design for pediatric Huntington's disease.