MUTATION IN CYSTATIN C GENE CAUSES HEREDITARY BRAIN HAEMORRHAGE
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.
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Cystatin C, encoded by CST3, is a potent cysteine cathepsin inhibitor and a well-characterized amyloidogenic protein associated with hereditary cystatin C amyloid angiopathy.
“Cystatin C, encoded by the CST3 gene, is a potent cysteine cathepsin inhibitor and a well-characterized amyloidogenic protein associated with hereditary cystatin C amyloid angiopathy (HCCAA), an autosomal dominant disorder caused by amyloid deposition in cerebral vasculature8.”
From Oligomeric cystatin C supports the immunosuppressive activity of myeloid cells through interaction with inhibitory receptors (2025) · cites this paper as [8]
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References 17 · Cited by 212
- Authors
- Palsdottir, A., Thorsteinsson, L., Olafsson, I., Abrahamson, M., Arnason, A., Grubb, A., & Jensson, O.
- Affiliations
- University of Iceland (IS)
- Lund University (SE)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1988-09
- Volume
- 332
- Issue
- 8611
- Pages
- 603-604
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W1979843610
- Cited by
- 212
- References
- 17
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 8 · 2023: 3 · 2022: 5 · 2021: 2 · 2020: 1 · 2019: 3 · 2018: 1 · 2017: 3 · 2016: 3 · 2015: 4 · 2014: 3 · 2013: 3 · 2012: 4
- FWCI
- 13.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Intracerebral and Subarachnoid Hemorrhage Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Keywords
- cystatin C, brain haemorrhage, autosomal dominant inheritance, cysteine protease inhibitors, cerebral amyloid angiopathy, gene transmission
- MeSH terms
- Cerebral Hemorrhage, Cerebrospinal Fluid Proteins, Female, Genetic Markers, Humans, Male, Mutation, Protease Inhibitors, Proteins, Polymorphism, Restriction Fragment Length, Cystatins, Cystatin C
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