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EHDN 2022 | NfL as a potential biomarker for juvenile onset Huntington’s disease

Lauren Byrne, PhD, UCL Queen Square Institute of Neurology, London, UK, shares an overview of a recent study investigating neurofilament light (NfL) as a potential blood biomarker for Huntington’s disease (HD) in children. Juvenile onset Huntington’s disease (JHD) is a form of HD that affects children and teenagers. Presenting symptoms of JHD are variable and differ from adult-onset disease. For example, neurodevelopmental delays or behavioral challenges are often seen early on and can lead to misdiagnosis. Additionally, there are important ethical considerations regarding genetic testing in children. Consequently, having a biomarker to act as a screening tool prior to genetic testing may aid in the diagnosis of JHD. In this study, blood NfL levels were found to be significantly elevated in children with JHD, compared to age-matched controls. In this way, NfL assessment may be a valuable test in pediatric patients with symptoms indicative of JHD. This interview took place during the European Huntington’s Disease Network 2022 Plenary Meeting.

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