Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

• 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Keyword

Alzheimer's disease

Biomarker

Dementia

Down syndrome

Neurofilament light

apolipoprotein E4

biological marker

neurofilament light protein

neurofilament protein

unclassified drug

adolescent

adult

age

aged

Article

controlled study

cross-sectional study

epilepsy

female

follow up

human

intelligence

longitudinal study

major clinical study

male

nerve degeneration

predictive validity

priority journal

protein blood level

protein determination

sex difference

Publication and Content Type

ref (subject category)

art (subject category)