Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage

Neurology. 2000 Jan 11;54(1):242-4. doi: 10.1212/wnl.54.1.242.

Abstract

In Icelandic pedigrees a cystatin C mutation, glutamine 68 (L68Q), causes autosomal dominant cerebral amyloid angiopathy-related hemorrhage (CAAH). We examined 33 patients with sporadic CAAH for this mutation. None carried L68Q and, including this report, only one of 52 published cases of sporadic CAAH has had the cystatin C mutation. Despite vascular colocalization of cystatin C with amyloid beta-protein, cystatin C L68Q is rare in sporadic CAAH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cerebral Amyloid Angiopathy / complications*
  • Cerebral Hemorrhage / etiology*
  • Cystatin C
  • Cystatins / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Mutation*

Substances

  • CST3 protein, human
  • Cystatin C
  • Cystatins