CYSTATIN-C MUTATION IN AN ELDERLY MAN WITH SPORADIC AMYLOID ANGIOPATHY AND INTRACEREBRAL HEMORRHAGE

Background Cerebral amyloid angiopathy (CAA)with intracerebral hemorrh age (ICH) occurs both sporadically and as a result of mutations in eit her cystatin C or the amyloid precursor protein. ICH due to cystatin C mutations typically occurs in young people of Icelandic origin. Case Description We report a case of sporadic CAA with ICH in an elderly Cr oatian man with a mutation in cystatin C identical to that found in Ic elandic hereditary cerebral hemorrhage with amyloidosis. Conclusions T his is the first case report of sporadic CAA associated with the same mutation causing hereditary cerebral hemorrhage with amyloidosis of th e Icelandic type. Sporadic CAA may thus be associated with genetic mut ations in some patients. The frequency of these mutations is yet to be determined.