Mutation in cystatin C gene causes hereditary brain haemorrhage

Summary, in English

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.

• Author: A Palsdottir; Magnus Abrahamson; L Thorsteinsson; A Arnason; Isleifur Olafsson; Anders Grubb; O Jensson
• Department/s: Division of Clinical Chemistry and Pharmacology
• Publishing year: 1988
• Language: English
• Pages: 603-604
• Publication/Series: The Lancet
• Volume: 332
• Issue: 8611
• Links: http://dx.doi.org/10.1016/S0140-6736(88)90641-1
• Document type: Journal article
• Publisher: Elsevier
• Topic: Pharmacology and Toxicology; Medicinal Chemistry
• Status: Published
• ISBN/ISSN/Other: ISSN: 1474-547X