The Francis Crick Institute
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Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

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journal contribution
posted on 2020-10-01, 15:06 authored by A Strydom, A Heslegrave, CM Startin, KY Mok, J Hardy, J Groet, D Nizetic, H Zetterberg, E Fisher, V Tybulewicz, A Karmiloff-Smith, S Hamburg, R Hithersay, The LonDownS Consotium
© 2018 The Author(s). Background: Down syndrome (DS) may be considered a genetic form of Alzheimer's disease (AD) due to universal development of AD neuropathology, but diagnosis and treatment trials are hampered by a lack of reliable blood biomarkers. A potential biomarker is neurofilament light (NF-L), due to its association with axonal damage in neurodegenerative conditions. Methods: We measured blood NF-L concentrations in 100 adults with DS using Simoa NF-light® assays, and we examined relationships with age as well as cross-sectional and longitudinal dementia diagnosis. Results: NF-L concentrations increased with age (Spearman's rho = 0.789, p < 0.001), with a steep increase after age 40, and they were predictive of dementia status (p = 0.022 adjusting for age, sex, and APOE4), but they showed no relationship with long-standing epilepsy or premorbid ability. Baseline NF-L concentrations were associated with longitudinal dementia status. Conclusions: NF-L is a biomarker for neurodegeneration in DS with potential for use in future clinical trials to prevent or delay dementia.