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C9orf72 and intracerebral haemorrhage

Hostettler, IC; Bernal-Quiros, M; Wong, A; Sharma, N; Wilson, D; Seiffge, D; Shakeshaft, C; ... Houlden, H; + view all (2019) C9orf72 and intracerebral haemorrhage. Neurobiology of Aging 10.1016/j.neurobiolaging.2019.07.007. (In press).

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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.

Type: Article
Title: C9orf72 and intracerebral haemorrhage
DOI: 10.1016/j.neurobiolaging.2019.07.007
Publisher version: https://doi.org/10.1016/j.neurobiolaging.2019.07.0...
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Intracerebral haemorrhage, C9orf72, genetics, dementia, white matter changes, imaging markers
UCL classification: UCL > Provost and Vice Provost Offices
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 > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Brain Repair and Rehabilitation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
URI: https://discovery.ucl.ac.uk/id/eprint/10081683
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