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(Stroke. 1995;26:2190-2193.)
© 1995 American Heart Association, Inc.

Articles

Cystatin C Mutation in an Elderly Man With Sporadic Amyloid Angiopathy and Intracerebral Hemorrhage

Carmelo Graffagnino, MD, FRCP(C); Michael H. Herbstreith, BS; Don E. Schmechel, MD; Efrat Levy, PhD; Allen D. Roses, MD Mark J. Alberts, MD

From the Division of Neurology, Department of Medicine (C.G., M.H.H., D.E.S., A.D.R., M.J.A.) and the Stroke Acute Care Unit (M.J.A.), Duke University Medical Center, Durham, NC; and the Department of Pharmacology, New York University Medical Center, New York, NY (E.L.).

Correspondence to Mark J. Alberts, MD, PO Box 3392, Duke University Medical Center, Durham, NC 27710.

Background Cerebral amyloid angiopathy (CAA) with intracerebral hemorrhage (ICH) occurs both sporadically and as a result of mutations in either 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 Croatian man with a mutation in cystatin C identical to that found in Icelandic hereditary cerebral hemorrhage with amyloidosis.

Conclusions This is the first case report of sporadic CAA associated with the same mutation causing hereditary cerebral hemorrhage with amyloidosis of the Icelandic type. Sporadic CAA may thus be associated with genetic mutations in some patients. The frequency of these mutations is yet to be determined.

Key Words: amyloid • cystatins • intracerebral hemorrhage • molecular biology • mutation

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