Mutation in cystatin C gene causes hereditary brain haemorrhage
(1988) In The Lancet 332(8611). p.603-604- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1104390
- author
- Palsdottir, A ; Abrahamson, Magnus LU ; Thorsteinsson, L ; Arnason, A ; Olafsson, Isleifur ; Grubb, Anders LU and Jensson, O
- organization
- publishing date
- 1988
- type
- Contribution to journal
- publication status
- published
- subject
- in
- The Lancet
- volume
- 332
- issue
- 8611
- pages
- 603 - 604
- publisher
- Elsevier
- external identifiers
-
- scopus:0023772251
- ISSN
- 1474-547X
- DOI
- 10.1016/S0140-6736(88)90641-1
- language
- English
- LU publication?
- yes
- id
- 9ca59f80-ed84-4f7b-ab21-8c118868e82a (old id 1104390)
- date added to LUP
- 2016-04-01 12:27:01
- date last changed
- 2021-04-04 05:09:03
@article{9ca59f80-ed84-4f7b-ab21-8c118868e82a, 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.}}, author = {{Palsdottir, A and Abrahamson, Magnus and Thorsteinsson, L and Arnason, A and Olafsson, Isleifur and Grubb, Anders and Jensson, O}}, issn = {{1474-547X}}, language = {{eng}}, number = {{8611}}, pages = {{603--604}}, publisher = {{Elsevier}}, series = {{The Lancet}}, title = {{Mutation in cystatin C gene causes hereditary brain haemorrhage}}, url = {{http://dx.doi.org/10.1016/S0140-6736(88)90641-1}}, doi = {{10.1016/S0140-6736(88)90641-1}}, volume = {{332}}, year = {{1988}}, }