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Mutation in the cystatin C gene causes hereditary brain hemorrhage

Palsdottir, A ; Abrahamson, Magnus LU orcid ; Thorsteinsson, L ; Arnason, A ; Olafsson, I ; Grubb, Anders LU orcid 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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author
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Progress in Clinical and Biological Research
volume
317
pages
241 - 246
publisher
John Wiley & Sons Inc.
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
2016-04-01 16:40:58
date last changed
2025-10-14 11:58:51
@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 Inc.}},
  series       = {{Progress in Clinical and Biological Research}},
  title        = {{Mutation in the cystatin C gene causes hereditary brain hemorrhage}},
  volume       = {{317}},
  year         = {{1989}},
}