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

C. Graffagnino, M. H. Herbstreith, D. E. Schmechel, E. Levy, A. D. Roses, M. J. Alberts

Research output: Contribution to journalArticle

44 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)2190-2193
Number of pages4
JournalStroke
Volume26
Issue number11
StatePublished - 1995

Fingerprint

Cystatin C
Cerebral Amyloid Angiopathy
Cerebral Hemorrhage
Familial Cerebral Amyloid Angiopathy
Mutation
Amyloid beta-Protein Precursor
Mutation Rate
Amyloid angiopathy

Keywords

  • amyloid
  • cystatins
  • intracerebral hemorrhage
  • molecular biology
  • mutation

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Neuroscience(all)

Cite this

Graffagnino, C., Herbstreith, M. H., Schmechel, D. E., Levy, E., Roses, A. D., & Alberts, M. J. (1995). Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. Stroke, 26(11), 2190-2193.

Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. / Graffagnino, C.; Herbstreith, M. H.; Schmechel, D. E.; Levy, E.; Roses, A. D.; Alberts, M. J.

In: Stroke, Vol. 26, No. 11, 1995, p. 2190-2193.

Research output: Contribution to journalArticle

Graffagnino, C, Herbstreith, MH, Schmechel, DE, Levy, E, Roses, AD & Alberts, MJ 1995, 'Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage', Stroke, vol. 26, no. 11, pp. 2190-2193.
Graffagnino C, Herbstreith MH, Schmechel DE, Levy E, Roses AD, Alberts MJ. Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. Stroke. 1995;26(11):2190-2193.
Graffagnino, C. ; Herbstreith, M. H. ; Schmechel, D. E. ; Levy, E. ; Roses, A. D. ; Alberts, M. J. / Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. In: Stroke. 1995 ; Vol. 26, No. 11. pp. 2190-2193.
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