Neurofilament Light Protein as a Potential Blood Biomarker for Huntington's Disease in Children.
Lauren M Byrne, Jordan L Schultz, Filipe B Rodrigues, Ellen van der Plas, Douglas Langbehn, Peggy C Nopoulos, Edward J Wild
Author Information
- Lauren M Byrne: Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. ORCID
- Jordan L Schultz: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA. ORCID
- Filipe B Rodrigues: Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. ORCID
- Ellen van der Plas: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA. ORCID
- Douglas Langbehn: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA. ORCID
- Peggy C Nopoulos: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA. ORCID
- Edward J Wild: Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. ORCID
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. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
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- L30 NS118681/NINDS NIH HHS
- R01 NS094387/NINDS NIH HHS
- K23 NS117736/NINDS NIH HHS
- MR/M008592/1/Medical Research Council
- R01 NS055903/NINDS NIH HHS
- P50 HD103556/NICHD NIH HHS
- U01 NS055903/NINDS NIH HHS
Biomarkers
Child
Disease Progression
Humans
Huntington Disease
Intermediate Filaments
Neurofilament Proteins
Retrospective Studies
Tumor Necrosis Factor Ligand Superfamily Member 14
Young Adult
Biomarkers
Neurofilament Proteins
Tumor Necrosis Factor Ligand Superfamily Member 14
