Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage.

Abstract

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.

• Authors: C Graffagnino, M H Herbstreith, D E Schmechel, E Levy, A D Roses, M J Alberts
• Journal: Stroke (Stroke) Vol. 26 Issue 11 Pg. 2190-3 (Nov 1995) ISSN: 0039-2499 [Print] United States
• PMID: 7482672 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CST3 protein, human
• Cystatin C
• Cystatins

Topics

• Cerebral Amyloid Angiopathy (complications, genetics, metabolism)
• Cerebral Hemorrhage (etiology, genetics, metabolism)
• Cystatin C
• Cystatins (genetics)
• Family
• Humans
• Male
• Middle Aged
• Mutation