STROKE: NEW IDEAS, PERSISTING DILEMMAS 

Panminerva Medica 2013 March;55(1):11-28

Copyright © 2013 EDIZIONI MINERVA MEDICA

lingua: Inglese

Genetics of cerebral hemorrhage and microbleeds

Lanfranconi S. ¹, Franco G. ¹, Borellini L. ¹, Denaro F. ², Basilico P. ¹, Parati E. ³, Micieli G. ², Bersano A. ³ ✉

¹ Department of Neurological Sciences, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS, Milan University, Milan, Italy; ² Department of Emergency Neurology. IRCCS C. Mondino National Neurological Institute Foundation, Pavia, Italy; ³ Cerebrovascular Unit, C. Besta IRCCS Foundation Neurological Institute, Milan, Italy

Intracerebral haemorrhage (ICH) is the least treatable and often fatal form of stroke. Literature data suggest a strong familial contribution to ICH. The identification of genetic factors with a role in ICH could enhance the understanding of the pathogenesis of hemorrhagic brain injury leading to new treatment and prevention approaches with the final goal of identifying high risk individuals in which genetic pattern may influence clinical and therapeutical decisions. Herein, we provide an updated review on genetic factors associated with occurrence and outcome of ICH. Except for monogenic disease which account for a minor proportion of hemorrhages, most of hemorrhagic stroke heritability is believed to be polygenic. However, the results of candidate gene studies did not show significant results except for the association between apoE genotype and ICH, which has been replicated in large population studies. These data may support the hypothesis that the risk that can be attributed to each of these polymorphisms taken individually is still moderate and some relatively common variants could contribute in determining the disease acting in synergy with other genetic factors.