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Parallel session 3: neurodegeneration, 16.15
294 Neurofilament light protein as a biomarker for huntington’s disease
  1. Byrne Lauren1,2,
  2. Rodrigues Filipe1,2,
  3. Johnson Eileanoir1,
  4. Solyu Kucharz Rana3,
  5. Gregory Sarah1,
  6. Scahill Rachael1,
  7. Björkqvist Maria3,
  8. Zetterberg Henrik3,4,5,
  9. Tabrizi Sarah1,2,
  10. Wild Edward1,2
  1. 1UCL Huntington’s Disease Centre, Institute of Neurology, UCL, London
  2. 2National Hospital for Neurology and Neurosurgery, Queen Square, London
  3. 3Wallenberg Neuroscience Center, Lund University, Lund, Sweden
  4. 4Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, Sweden
  5. 5UK Dementia Research Institute, London, UK

Abstract

Background Neurofilament light protein (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. We set out to investigate NfL as a potential biomarker for Huntington’s disease (HD).

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.

https://doi.org/10.1136/jnnp-2018-ABN.158

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