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Title: Neurofilament light as a blood biomarker for neurodegeneration in down syndrome
Authors: Strydom, Andre
Heslegrave, Amanda
Startin, Carla M.
Mok, Kin Y.
Hardy, John
Groet, Jurgen
Nizetic, Dean
Zetterberg, Henrik
Keywords: Alzheimer's Disease
Down Syndrome
Issue Date: 2018
Source: Strydom, A., Heslegrave, A., Startin, C. M., Mok, K. Y., Hardy, J., Groet, J., et al. (2018). Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome. Alzheimer's Research & Therapy, 10(1).
Series/Report no.: Alzheimer's Research & Therapy
Abstract: 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.
ISSN: 1758-9193
DOI: 10.1186/s13195-018-0367-x
Schools: Lee Kong Chian School of Medicine (LKCMedicine) 
Rights: © The Author(s). 2018 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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