Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

• Main Authors: Andre Strydom, Amanda Heslegrave, Carla M. Startin, Kin Y. Mok, John Hardy, Jurgen Groet, Dean Nizetic, Henrik Zetterberg, The LonDownS Consortium
• Format: Article
• Language: English
• Published: BMC 2018-04-01
• Series: Alzheimer’s Research & Therapy
• Subjects: Down syndrome; Alzheimer’s disease; Dementia; Neurofilament light; Biomarker
• Online Access: http://link.springer.com/article/10.1186/s13195-018-0367-x

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.