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Mutation in the cystatin C gene causes hereditary brain hemorrhage

Palsdottir, A; Abrahamson, Magnus LU ; Thorsteinsson, L; Arnason, A; Olafsson, I; Grubb, Anders LU and Jensson, O (1989) In Progress in Clinical and Biological Research 317. p.241-246
Abstract
Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder leading to massive brain hemorrhage and death in young adults (Jensson et al., 1987). A variant of a potent inhibitor of cysteine proteinases, cystatin C (Barrett et al., 1984), is deposited as amyloid fibrils in the cerebral arteries of the patients (Ghiso et al., 1986). We have used the full length cystatin C cDNA probe (Abrahamson et al., 1987) to demonstrate a mutation in the codon for leucine at position 68, which abolishes an Alu I restriction site in cystatin C gene of the HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in the affected members in all eight families investigated, proving that the mutated... (More)
Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder leading to massive brain hemorrhage and death in young adults (Jensson et al., 1987). A variant of a potent inhibitor of cysteine proteinases, cystatin C (Barrett et al., 1984), is deposited as amyloid fibrils in the cerebral arteries of the patients (Ghiso et al., 1986). We have used the full length cystatin C cDNA probe (Abrahamson et al., 1987) to demonstrate a mutation in the codon for leucine at position 68, which abolishes an Alu I restriction site in cystatin C gene of the HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in the affected members in all eight families investigated, proving that the mutated cystatin C gene causes HCCAA. This DNA marker will be useful for the diagnosis of HCCAA in patients, asymptomatic affected individuals and also for pre-natal diagnosis. HCCAA is the first human disorder known to be caused by an abnormal gene for a cysteine proteinase inhibitor (Less)
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organization
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type
Contribution to journal
publication status
published
subject
in
Progress in Clinical and Biological Research
volume
317
pages
241 - 246
publisher
John Wiley & Sons
external identifiers
  • scopus:0024795711
ISSN
0361-7742
language
English
LU publication?
yes
id
c93a0aeb-4aaa-496c-99ee-7b7c533e38dd (old id 1104902)
date added to LUP
2008-08-07 08:30:52
date last changed
2017-08-06 04:36:48
@article{c93a0aeb-4aaa-496c-99ee-7b7c533e38dd,
  abstract     = {Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder leading to massive brain hemorrhage and death in young adults (Jensson et al., 1987). A variant of a potent inhibitor of cysteine proteinases, cystatin C (Barrett et al., 1984), is deposited as amyloid fibrils in the cerebral arteries of the patients (Ghiso et al., 1986). We have used the full length cystatin C cDNA probe (Abrahamson et al., 1987) to demonstrate a mutation in the codon for leucine at position 68, which abolishes an Alu I restriction site in cystatin C gene of the HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in the affected members in all eight families investigated, proving that the mutated cystatin C gene causes HCCAA. This DNA marker will be useful for the diagnosis of HCCAA in patients, asymptomatic affected individuals and also for pre-natal diagnosis. HCCAA is the first human disorder known to be caused by an abnormal gene for a cysteine proteinase inhibitor},
  author       = {Palsdottir, A and Abrahamson, Magnus and Thorsteinsson, L and Arnason, A and Olafsson, I and Grubb, Anders and Jensson, O},
  issn         = {0361-7742},
  language     = {eng},
  pages        = {241--246},
  publisher    = {John Wiley & Sons},
  series       = {Progress in Clinical and Biological Research},
  title        = {Mutation in the cystatin C gene causes hereditary brain hemorrhage},
  volume       = {317},
  year         = {1989},
}