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

ABSTRACT:

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

SUBMITTER: Byrne LM 

PROVIDER: S-EPMC9308659 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature