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Mutation in cystatin C gene causes hereditary brain haemorrhage

Palsdottir, A ; Abrahamson, Magnus LU ; Thorsteinsson, L ; Arnason, A ; Olafsson, Isleifur ; Grubb, Anders LU and Jensson, O (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.
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author
; ; ; ; ; and
organization
publishing date
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}},
}