Journal article
Neurofilament Light Protein as a Potential Blood Biomarker for Huntington's Disease in Children
Movement disorders, Vol.37(7), pp.1526-1531
04/18/2022
DOI: 10.1002/mds.29027
PMCID: PMC9308659
PMID: 35437792
Abstract
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.
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.
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.
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.
Details
- Title: Subtitle
- Neurofilament Light Protein as a Potential Blood Biomarker for Huntington's Disease in Children
- Creators
- Lauren M Byrne - University College LondonJordan L Schultz - Department of Neurology, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USAFilipe B Rodrigues - University College LondonEllen van der Plas - Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USADouglas Langbehn - Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USAPeggy C Nopoulos - Department of Neurology, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USAEdward J Wild - University College London
- Resource Type
- Journal article
- Publication Details
- Movement disorders, Vol.37(7), pp.1526-1531
- DOI
- 10.1002/mds.29027
- PMID
- 35437792
- PMCID
- PMC9308659
- NLM abbreviation
- Mov Disord
- eISSN
- 1531-8257
- Grant note
- MR/M008592/1 / Medical Research Council Hereditary Disease Foundation R01-NS094387 / NINDS NIH HHS Huntington's Disease Society of America K23-NS117736 / NINDS NIH HHS R01-NS055903 / NINDS NIH HHS CHDI Foundation
- Language
- English
- Date published
- 04/18/2022
- Academic Unit
- Neurology; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Pharmacy Practice and Science
- Record Identifier
- 9984244053002771
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