King's College London

Research portal

Down syndrome with and without dementia: An in vivo proton Magnetic Resonance Spectroscopy study with implications for Alzheimer's disease

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)63 - 68
Number of pages6
Issue number1
Publication statusPublished - 1 Jul 2011

King's Authors


It is poorly understood why people with Down syndrome (DS) are at extremely high-risk of developing Alzheimer's disease (AD) compared to the general population. One explanation may be related to their extra copy of risk factors modulated by chromosome 21. Myo-inositol (ml), whose transporter gene is located on chromosome 21, has been associated with dementia in the non-DS population; however, nobody has contrasted brain ml in DS with (DS+) and without (DS-) dementia to other non-DS groups. Our primary aim was to compare the hippocampal concentration of ml ([ml]) and other brain metabolites such as N-acetylaspartate (NAA: a proxy measure of neuronal density and mitochondrial function) in DS+. DS-, and age-matched healthy controls using proton Magnetic Resonance Spectroscopy (H-1-MRS). We compared hippocampal [ml] and other metabolites in 35 individuals with genetically-confirmed DS [DS+ (n = 17, age = 53 +/- 6) and DS- (n = 18, age = 47 +/- 8)] to age-matched healthy controls (n = 13, age = 51 +/- 10) adjusting for proportion of the MRS voxel occupied by cerebrospinal spinal fluid, and gray/white matter. DS+ had a significantly higher [ml] than both DS- and healthy controls. In contrast neither DS+ nor DS- differed significantly from controls in [NAA] (although NAA in DS+ was significantly lower than DS-). Our secondary aim of comparing brain metabolites in DS+ and DS- to Alzheimer's disease (AD; n=39; age = 77 +/- 5) revealed that the DS+ group had significantly elevated [ml] compared to AD or DS-. [ml] may modify risk for dementia in this vulnerable population. (C) 2011 Elsevier Inc. All rights reserved.

View graph of relations

© 2018 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454