C9orf72 and intracerebral haemorrhage

Hostettler, I. C. et al. (2019) C9orf72 and intracerebral haemorrhage. Neurobiology of Aging, 84, 237.e1-237.e3. (doi: 10.1016/j.neurobiolaging.2019.07.007) (PMID:31582231)

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Abstract

The C9orf72 GGGGCC repeat expansion has been associated with several diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD). It has also been associated with increased white matter changes in FTD as well as risk of cognitive impairment in ALS. Dementia is common both before and after intracerebral haemorrhage (ICH). Since the mechanisms of cognitive impairment in patients with ICH are uncertain, we investigated whether C9orf72 could influence dementia risk in this patient group. Therefore, we genotyped 1010 clinically characterised ICH cases and 2147 population controls in comparison with prior data of dementia and ALS cases. We did not find any association between C9orf72 repeat expansion or repeat size with ICH compared to controls or with dementia when assessing ICH patients only. The frequency of C9orf72 expansions in our series of individuals born in 1946 (2/2147) and other UK controls was age-dependent decreasing with increasing age, highlighting the high age-dependant penetrance of this expansion.

Item Type:Articles
Additional Information:Funding: HH and ICH received funding from the Alzheimer Research UK and Dunhill Medical Trust Foundation. DJW and DW received funding from the Stroke Foundation/British Heart Foundation. This work was undertaken at UCLH/UCL which receives a proportion of funding from the Department of Health’s National Institute for Health Research (NIHR) Biomedical Research Centres funding scheme.
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Muir, Professor Keith
Authors: Hostettler, I. C., Bernal-Quiros, M., Wong, A., Sharma, N., Wilson, D., Seiffge, D., Shakeshaft, C., Jäger, H. R., Cohen, H., Yousry, T., Al-Shahi Salman, R., Lip, G. Y.H., Brown, M. M., Muir, K. M., Werring, D. J., and Houlden, H.
College/School:College of Medical Veterinary and Life Sciences > Institute of Neuroscience and Psychology
Journal Name:Neurobiology of Aging
Publisher:Elsevier
ISSN:0197-4580
ISSN (Online):1558-1497
Published Online:18 July 2019
Copyright Holders:Copyright © 2019 Elsevier Inc.
First Published:First published in Neurobiology of Aging 84: 237.e1-237.e3
Publisher Policy:Reproduced in accordance with the publisher copyright policy

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