Published: Down syndrome: Distribution of brain amyloid in mild cognitive impairment

Full paper:



Down syndrome (DS) is associated with a higher risk of dementia. We hypothesize that amyloid beta (Aβ) in specific brain regions differentiates mild cognitive impairment in DS (MCI‐DS) and test these hypotheses using cross‐sectional and longitudinal data.


18F‐AV‐45 (florbetapir) positron emission tomography (PET) data were collected to analyze amyloid burden in 58 participants clinically classified as cognitively stable (CS) or MCI‐DS and 12 longitudinal CS participants.


The study confirmed our hypotheses of increased amyloid in inferior parietal, lateral occipital, and superior frontal regions as the main effects differentiating MCI‐DS from the CS groups. The largest annualized amyloid increases in longitudinal CS data were in the rostral middle frontal, superior frontal, superior/middle temporal, and posterior cingulate cortices.


This study helps us to understand amyloid in the MCI‐DS transitional state between cognitively stable aging and frank dementia in DS. The spatial distribution of Aβ may be a reliable indicator of MCI‐DS in DS.

AAIC 2019 Alzheimer’s Imaging Consortium Talk on Amyloid in Down Syndrome

Individuals with Down syndrome (DS) have an increasing age-related prevalence of Alzheimer’s disease (AD). In DS, the triplication of amyloid precursor protein on chromosome 21 contributes to a life-long accumulation of brain amyloid. Dementia increases with age to over 75% prevalence after age 65 years.

In non-demented adults with DS, PET studies have shown increased amyloid uptake. However, the relationship between amyloid uptake and cognitive decline in DS has not been determined. This study compares brain amyloid distribution by consensus diagnosis in patients with DS using 18F-AV-45 PET.

The talk is available at the AAIC Learning Center and unfortunately is not free.

The poster and abstract

Or you can view the poster directly: DownsADDSPET_AAIC_2019

1RF1MH120021-01 Award Funded!

In this project we develop human neuroimaging domain-specific controlled vocabularies through community engagement and to provide tools for their use in BRAIN Initiative projects. The proposed work will provide a controlled vocabulary for use by the newer BRAIN Initiative projects, incorporating such annotations into the BIDS format and hosted through the BRAIN Initiative archives such as OpenNeuro. This project will greatly improve the ability to search across and reuse datasets.

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