Abstract | BACKGROUND: OBJECTIVE: This study aimed to investigate the cross-sectional diagnostic performance of plasma neurofilament light chain (Nf-L) and total-tau, individually and in combination among a cohort of DS adults. METHODS: Plasma samples were analyzed from n = 305 (n = 225 cognitively stable (CS); n = 44 MCI-DS; n = 36 DS-AD) participants enrolled in the Alzheimer's Biomarker Consortium - Down Syndrome. RESULTS: In distinguishing DS-AD participants from CS, Nf-L alone produced an AUC of 90%, total-tau alone reached 74%, and combined reached an AUC of 86%. When age and gender were included, AUC increased to 93%. Higher values of Nf-L, total-tau, and age were all shown to be associated with increased risk for DS-AD. When distinguishing MCI-DS participants from CS, Nf-L alone produced an AUC of 65%, while total-tau alone reached 56%. A combined model with Nf-L, total-tau, age, and gender produced an AUC of 87%. Both higher values in age and total-tau were found to increase risk for MCI-DS; Nf-L levels were not associated with increased risk for MCI-DS. CONCLUSION: Advanced assay techniques make total-tau and particularly Nf-L useful biomarkers of both AD pathology and clinical status in DS and have the potential to serve as outcome measures in clinical trials for future disease-modifying drugs.
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Authors | Melissa E Petersen, Michael S Rafii, Fan Zhang, James Hall, David Julovich, Beau M Ances, Nicole Schupf, Sharon J Krinsky-McHale, Mark Mapstone, Wayne Silverman, Ira Lott, William Klunk, Elizabeth Head, Brad Christian, Tatiana Foroud, Florence Lai, H Diana Rosas, Shahid Zaman, Mei-Cheng Wang, Benjamin Tycko, Joseph H Lee, Benjamin Handen, Sigan Hartley, Juan Fortea, Sid O'Bryant, Alzheimer’s Biomarker Consortium –Down Syndrome (ABC-DS) |
Journal | Journal of Alzheimer's disease : JAD
(J Alzheimers Dis)
Vol. 79
Issue 2
Pg. 671-681
( 2021)
ISSN: 1875-8908 [Electronic] Netherlands |
PMID | 33337378
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- Neurofilament Proteins
- neurofilament protein L
- tau Proteins
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Topics |
- Adult
- Aged
- Aged, 80 and over
- Alzheimer Disease
(blood, complications, diagnosis)
- Biomarkers
(blood)
- Cognitive Dysfunction
(blood, complications, diagnosis)
- Cross-Sectional Studies
- Down Syndrome
(complications)
- Female
- Humans
- Male
- Middle Aged
- Neurofilament Proteins
(blood)
- tau Proteins
(blood)
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