A molecular genetic study of intracerebral hemorrhage
C. Graffagnino, M. H. Herbstreith, A. D. Roses and M. J. Alberts
Department of Medicine, Duke University Medical Center, Durham, NC.
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.
