C9orf72 and intracerebral hemorrhage.

Hostettler, Isabel C; Bernal-Quiros, Manuel; Wong, Andrew; Sharma, Nikhil; Wilson, Duncan; Seiffge, David J.; Shakeshaft, Clare; Jäger, Hans R; Cohen, Hannah; Yousry, Tarek; Al-Shahi Salman, Rustam; Lip, Gregory Y H; Brown, Martin M; Muir, Keith W; Werring, David J; Houlden, Henry (2019). C9orf72 and intracerebral hemorrhage. Neurobiology of aging, 84, 237.e1-237.e3. Elsevier 10.1016/j.neurobiolaging.2019.07.007

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The chromosome 9 open reading frame 72 (C9orf72) GGGGCC repeat expansion has been associated with several diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. It has also been associated with increased white matter changes in frontotemporal dementia and risk of cognitive impairment in ALS. Dementia is common both before and after intracerebral hemorrhage (ICH). Because 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 characterized 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 and repeat size with ICH compared with 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 U.K. controls was age dependent, decreasing with increasing age, highlighting the high age-dependent penetrance of this expansion.

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