This Article Full Text Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Graffagnino, C. Articles by Alberts, M. J. Search for Related Content PubMed PubMed Citation Articles by Graffagnino, C. Articles by Alberts, M. J.

(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

This article has been cited by other articles:

				M. O. McCarron, J. A. R. Nicoll, J. Stewart, J. W. Ironside, D. M. A. Mann, S. Love, D. I. Graham, and A. Grubb Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage Neurology, January 11, 2000; 54(1): 242 - 242. [Abstract] [Full Text] [PDF]

				M. O. McCarron, J. A. R. Nicoll, J. W. Ironside, S. Love, M. J. Alberts, and I. Bone Cerebral Amyloid Angiopathy–Related Hemorrhage : Interaction of APOE {epsilon}2 With Putative Clinical Risk Factors Stroke, August 1, 1999; 30(8): 1643 - 1646. [Abstract] [Full Text] [PDF]

				L. Wei, Y. Berman, E. M. Castano, M. Cadene, R. C. Beavis, L. Devi, and E. Levy Instability of the Amyloidogenic Cystatin C Variant of Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type J. Biol. Chem., May 8, 1998; 273(19): 11806 - 11814. [Abstract] [Full Text] [PDF]

				L. Wei, L. C. Walker, E. Levy, and W. I. Rosenblum Cystatin C: Icelandic-Like Mutation in an Animal Model of Cerebrovascular ß-Amyloidosis Stroke, November 1, 1996; 27(11): 2080 - 2085. [Abstract] [Full Text]