Session Information
Date: Sunday, October 7, 2018
Session Title: Huntington's Disease
Session Time: 1:45pm-3:15pm
Location: Hall 3FG
Objective: To investigate whether neurofilament light protein (NfL) a potential prognostic marker of neurodegeneration with Huntington’s disease.
Background: NfL, a component of the axonal cytoskeleton, has been shown to be increased in cerebrospinal fluid (CSF) and blood and to respond to successful treatment in several neurological diseases.
Methods: We studied NfL in plasma from 298 participants, in plasma and CSF in 37 participants, and in the R6/2 HD mouse model.
Results: NfL concentration was increased in plasma at every stage of HD including premanifest mutation carriers, rose with progression and had a striking relationship with HTT CAG repeat length. In premanifest HD, baseline plasma NfL predicted subsequent motor onset even after adjustment for age and CAG repeat length. NfL predicted clinical, cognitive and neuroimaging progression, and CSF and plasma levels were strongly associated (Byrne et al, Lancet Neurology 2017). VBM analysis revealed that NfL level predicted atrophy throughout the white matter and in the occipital grey matter (Johnson et al, Neurology 2018). In the R6/2 mouse model, NfL was increased in plasma and CSF and associated with brain volume and clinical measures (Soylu Kucharz et al, Scientific Reports 2017).
Conclusions: NfL is a promising clinical and translational biomarker for HD.
References: Byrne LM et al. Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington’s disease: a retrospective cohort analysis [Internet]. Lancet Neurol. 2017;16(8):601–9. Johnson EB et al. Neurofilament light protein in blood predicts regional atrophy in Huntington disease. [Internet]. Neurology 2018;10.1212/WNL.0000000000005005. Soylu-Kucharz R et al. Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington’s disease R6/2 mice [Internet]. Sci. Rep. 2017;7(1):14114.
To cite this abstract in AMA style:
L. Byrne, F. Rodrigues, E. Johnson, S. Gregory, R. Soylu Kucharz, M. Björkqvist, A. Heslegrave, K. Blennow, A. Durr, B. Leavitt, R. Roos, S. Tabrizi, H. Zetterberg, D. Langbehn, R. Scahill, E. Wild. Neurofilament light protein: An emerging clinical and translational biofluid biomarker for Huntington’s disease [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/neurofilament-light-protein-an-emerging-clinical-and-translational-biofluid-biomarker-for-huntingtons-disease/. Accessed June 15, 2025.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/neurofilament-light-protein-an-emerging-clinical-and-translational-biofluid-biomarker-for-huntingtons-disease/