Abstract
INTRODUCTION
Down syndrome (DS) is a genetic cause of early-onset Alzheimer’s disease (AD). The National Institute on Aging–Alzheimer’s Association AT(N) Research Framework is a staging model for AD biomarkers but has not been assessed in DS.
METHOD
Data are from the Alzheimer’s Biomarker Consortium–Down Syndrome. Positron emission tomography (PET) amyloid beta (Aβ; 15 mCi of [11C]Pittsburgh compound B) and tau (10 mCi of [18F]AV-1451) were used to classify amyloid (A) –/+ and tau (T) +/–. Hippocampal volume classified neurodegeneration (N) –/+. The modified Cued Recall Test assessed episodic memory.
RESULTS
Analyses included 162 adults with DS (aged M = 38.84 years, standard deviation = 8.41). Overall, 69.8% of participants were classified as A–/T–/(N)–, 11.1% were A+/T–/(N)–, 5.6% were A+/T+/(N)–, and 9.3% were A+/T+/(N)+. Participants deemed cognitively stable were most likely to be A–T–(N)– and A+T–(N)–. Tau PET (T+) most closely aligning with memory impairment and AD clinical status.
DISCUSSION
Findings add to understanding of AT(N) biomarker profiles in DS.
HIGHLIGHTS

Overall, 69.8% of adults with Down syndrome (DS) aged 25 to 61 years were classified as amyloid (A)–/tau (T)–/neurodegeneration (N)–, 11.1% were A+/T–/(N)–, 5.6% were A+/T+/(N)–, and 9.3% were A+/T+/(N)+.
The AT(N) profiles were associated with clinical Alzheimer’s disease (AD) status and with memory performance, with the presence of T+ aligned with AD clinical symptomology.
Findings inform models for predicting the transition to the prodromal stage of AD in DS.


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This post is Copyright: Sigan L. Hartley,
Benjamin Handen,
Dana Tudorascu,
Laisze Lee,
Annie Cohen,
Emily K. Schworer,
Jamie C. Peven,
Matthew Zammit,
William Klunk,
Charles Laymon,
Davneet Minhas,
Weiquan Luo,
Shahid Zaman,
Beau Ances,
Gregory Preboske,
Bradley T. Christian,
the Alzheimer Biomarker Consortium – Down Syndrome | August 29, 2023

Wiley: Alzheimer’s & Dementia: Table of Contents