Cross-sectional exploration of plasma biomarkers of alzheimer’s disease in down syndrome: Early data from the longitudinal investigation for enhancing down syndrome research (life-dsr) study

James A. Hendrix, David C. Airey, Angela Britton, Anna D. Burke, George T. Capone, Ronelyn Chavez, Jacqueline Chen, Brian Chicoine, Alberto C.S. Costa, Jeffrey L. Dage, Eric Doran, Anna Esbensen, Casey L. Evans, Kelley M. Faber, Tatiana M. Foroud, Sarah Hart, Kelsey Haugen, Elizabeth Head, Suzanne Hendrix, Hampus HillerstromPriya S. Kishnani, Kavita Krell, Duvia Lara Ledesma, Florence Lai, Ira Lott, Cesar Ochoa-Lubinoff, Jennifer Mason, Jessie Nicodemus-Johnson, Nicholas Kyle Proctor, Margaret B. Pulsifer, Carolyn Revta, H. Diana Rosas, Tracie C. Rosser, Stephanie Santoro, Kim Schafer, Thomas Scheidemantel, Frederick Schmitt, Brian G. Skotko, Melissa R. Stasko, Amy Talboy, Amy Torres, Kristi Wilmes, Jason Woodward, Jennifer A. Zimmer, Howard H. Feldman, William Mobley

Research output: Contribution to journalArticlepeer-review

Abstract

With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer’s disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. The study is designed to characterize trajectories of change in DS-associated AD (DS-AD). The current study reports its cross-sectional analysis of the first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light chain (NfL), amyloid β peptides (Aβ1-40, Aβ1-42), and glial fibrillary acidic protein (GFAP) were undertaken with previously published methods. The clinical data from the baseline visit include demographics as well as the cognitive measures under the Severe Impairment Battery (SIB) and Down Syndrome Mental Status Examina-tion (DS-MSE). Biomarker distributions are described with strong statistical associations observed with participant age. The biomarker data contributes to understanding DS-AD across the spectrum of disease. Collectively, the biomarker data show evidence of DS-AD progression beginning at ap-proximately 40 years of age. Exploring these data across the full LIFE-DSR longitudinal study population will be an important resource in understanding the onset, progression, and clinical profiles of DS-AD pathophysiology.

Original languageEnglish (US)
Article number1907
JournalJournal of Clinical Medicine
Volume10
Issue number9
DOIs
StatePublished - May 1 2021
Externally publishedYes

Keywords

  • Alzheimer’s disease
  • Amyloid β peptide
  • Blood biomarkers
  • Down syndrome
  • Glial fibrillary acidic protein
  • Neurofilament light chain
  • Phosphorylated tau protein

ASJC Scopus subject areas

  • Medicine(all)

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