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EHDN 2022 | Biofluid biomarkers in Huntington’s disease: mHTT and NfL

Lauren Byrne, PhD, UCL Queen Square Institute of Neurology, London, UK, discusses the latest progress in developing and validating biofluid biomarkers for Huntington’s disease (HD). Many research groups are working to define markers that can aid in disease prognostication or assessing the impact of therapeutic interventions. Both mutant huntingtin (mHTT) and neurofilament light (NfL) are showing great promise in this space. Over the past decade, considerable progress has been made utilizing antibody-based pairing bioassays to detect mHTT in cerebrospinal fluid. In this way, mHTT can be used as a target engagement marker in studies of novel therapeutic interventions. Accumulating evidence supports the value of NfL as a robust marker of disease progression in HD. Levels have been shown to correlate with brain atrophy and motor and cognitive decline. Changes in NfL levels in CSF and blood can be seen very early – up to 24 years prior to predicted symptom onset in some studies. Further characterization of these biomarkers across the entire disease course is important to drive progress. This interview took place during the European Huntington’s Disease Network 2022 Plenary Meeting.

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