Zis, P;
Strydom, A;
(2018)
Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome.
Free Radical Biology and Medicine
, 114
pp. 3-9.
10.1016/j.freeradbiomed.2017.08.024.
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Abstract
Alzheimer's disease (AD) may affect in excess of 90% of individuals with Down syndrome (DS) after age 60, due to duplication of the APP gene in trisomy of chromosome 21, with neuropathology that is comparable to Sporadic AD and Familial AD (FAD). Previous literature suggested some unique features in clinical presentation of dementia in DS (DSd), which might be due to diagnostic difficulties, or represent a real difference compared to SAD or FAD. We review current knowledge on clinical diagnosis and presentation of dementia in DS in comparison with FAD due to APP mutations and APP duplication. We suggest that the clinical presentation in DS (prominent memory decline and behavioral symptoms, and early development of myoclonus and seizures) are similar to the clinical features associated with APP mutations that is known to have an increased Aβ42/ Aβ40 ratio, and highlight the relative lack of vascular complications associated with cerebral amyloid angiopathy in DS in comparison with those rare individuals with FAD due to duplication APP. We consider the biomarker evidence associated with DS and DSd with reference to Aβ peptide levels and oxidative stress, and suggest future directions for research to explore the potential mechanisms associated with the clinical presentation of DSd.
| Type: | Article |
|---|---|
| Title: | Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.freeradbiomed.2017.08.024 |
| Publisher version: | http://dx.doi.org/10.1016/j.freeradbiomed.2017.08.... |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | APP mutation, Alzheimer's disease, Biomarkers, Down syndrome, Familial |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1573133 |
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