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A Molecular Genetic Study of Intracerebral Hemorrhage

Carmelo Graffagnino, MD, FRCPC; Michael H. Herbstreith; Allen D. Roses, MD; Mark J. Alberts, MD
Arch Neurol. 1994;51(10):981-984. doi:10.1001/archneur.1994.00540220027011.
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Background:  Two forms of inherited intracerebral hemorrhage (ICH) are associated with an amyloid angiopathy caused by mutations in the genes for the amyloid precursor protein or cystatin C. The purpose of this study was to determine whether patients with sporadic ICH have mutations in the amyloid precursor protein or cystatin C genes.

Methods:  Consecutive patients with ICH admitted to the neurology or neurosurgery services at Duke University Hospital, Durham, NC, were studied. Using the polymerase chain reaction, we amplified exons 16 and 17 of the amyloid precursor protein and exon 2 of cystatin C and sequenced the products. Twenty-six men and 22 women were studied. The ICH location was deep in 29 patients, lobar in 16, cerebellar in two, and brain stem in one. There were 30 patients (63%) with a positive family history of stroke; seven of them (15%) had a family history of ICH.

Conclusions:  Mutations previously reported to cause familial forms of ICH were not found in this group of patients.

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