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Title: Intracerebral haemorrhage in down syndrome: protected or predisposed?
Authors: Buss, Lewis
Fisher, Elizabeth
Hardy, John
Nizetic, Dean
Groet, Jurgen
Pulford, Laura
Strydom, André
Keywords: Intracerebral Haemorrhage
Down Syndrome
Issue Date: 2016
Source: Buss, L., Fisher, E., Hardy, J., Nizetic, D., Groet, J., Pulford, L., & Strydom, A. (2016). Intracerebral haemorrhage in Down syndrome: protected or predisposed?. F1000Research, 5, 876-. doi:10.12688/F1000RESEARCH.7819.1
Series/Report no.: F1000Research
Abstract: Down syndrome (DS), which arises from trisomy of chromosome 21, is associated with deposition of large amounts of amyloid within the central nervous system. Amyloid accumulates in two compartments: as plaques within the brain parenchyma and in vessel walls of the cerebral microvasculature. The parenchymal plaque amyloid is thought to result in an early onset. Alzheimer’s disease (AD) dementia, a phenomenon so common amongst people with DS that it could be considered a defining feature of the condition. The amyloid precursor protein (APP) gene lies on chromosome 21 and its presence in three copies in DS is thought to largely drive the early onset AD. In contrast, intracerebral haemorrhage (ICH), the main clinical consequence of vascular amyloidosis, is a more poorly defined feature of DS. We review recent epidemiological data on stroke (including haemorrhagic stroke) in order to make comparisons with a rare form of familial AD due to duplication (i.e. having three copies) of the APP region on chromosome 21, here called ‘dup-APP’, which is associated with more frequent and severe ICH. We conclude that although people with DS are at increased risk of ICH, this is less common than in dup-APP, suggesting the presence of mechanisms that act protectively. We review these mechanisms and consider comparative research into DS and dup-APP that may yield further pathophysiological insight.
ISSN: 2046-1402
DOI: 10.12688/f1000research.7819.1
Rights: © 2016 Buss L et al. This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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