Advanced

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.
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
The Lancet
volume
332
issue
8611
pages
603 - 604
publisher
Elsevier Limited
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
2008-08-08 09:51:24
date last changed
2017-08-06 03:48:22
@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 Limited},
  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},
  volume       = {332},
  year         = {1988},
}