Mutation in cystatin C gene causes hereditary brain haemorrhage

A Palsdottir, M Abrahamson, L Thorsteinsson, A Arnason, I Olafsson, A Grubb, O Jensson

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder in which a cysteine proteinase inhibitor, cystatin C, is deposited as amyloid fibrils in the cerebral arteries of patients and leads to massive brain haemorrhage and death in young adults. A full length cystatin C cDNA probe revealed a mutation in the codon for leucine at position 68 which abolishes an Alu I restriction site in the cystatin C gene of HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in affected members of all eight families investigated, and that the mutated cystatin C gene causes HCCAA.
Original languageEnglish
JournalLancet
DOIs
Publication statusPublished - 10 Sept 1988

Other keywords

  • Cerebral Hemorrhage
  • Cerebrospinal Fluid Proteins
  • Cystatin C
  • Cystatins
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Mutation
  • Polymorphism, Restriction Fragment Length
  • Protease Inhibitors
  • Proteins

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