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Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage

Jensson, O ; Gudmundsson, G ; Arnason, A ; Blöndal, H ; Petursdottir, I ; Thorsteinsson, L ; Grubb, A LU orcid ; Löfberg, H LU ; Cohen, D and Frangione, B (1987) In Acta Neurologica Scandinavica 76(2). p.102-114
Abstract

Hereditary CNS amyloid angiopathy occurring in Icelanders is the first human disorder known to be caused by deposition of cystatin C amyloid fibrils in the walls of the brain arteries leading to single or or multiple strokes with fatal outcome. One or more affected members have been verified by histological examination in 8 families containing 127 affected. These originated from the same geographic area. Abnormally low value of cystatin C found in the cerebrospinal fluid of those affected can be used to support or make diagnosis of this disease, also in asymptomatic relatives. By amino acid sequence analysis the amyloid fibrils in the patients are found to be a variant of cystatin C (gamma-trace), a major cysteine proteinase inhibitor.... (More)

Hereditary CNS amyloid angiopathy occurring in Icelanders is the first human disorder known to be caused by deposition of cystatin C amyloid fibrils in the walls of the brain arteries leading to single or or multiple strokes with fatal outcome. One or more affected members have been verified by histological examination in 8 families containing 127 affected. These originated from the same geographic area. Abnormally low value of cystatin C found in the cerebrospinal fluid of those affected can be used to support or make diagnosis of this disease, also in asymptomatic relatives. By amino acid sequence analysis the amyloid fibrils in the patients are found to be a variant of cystatin C (gamma-trace), a major cysteine proteinase inhibitor. The variant protein has an amino acid substitution (glutamine for leucine) at position 58 in the amyloid molecule. It is postulated that a point mutation has occurred leading to production of amyloidogenic protein causing the disorder.

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author
; ; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Amyloid/metabolism, Amyloidosis/genetics, Brain/pathology, Cerebral Hemorrhage/genetics, Cerebrovascular Disorders/genetics, Cystatin C, Cystatins, Female, Humans, Iceland, Male, Pedigree, Proteins/metabolism
in
Acta Neurologica Scandinavica
volume
76
issue
2
pages
102 - 114
publisher
Wiley-Blackwell
external identifiers
  • pmid:3673496
  • scopus:0023177469
ISSN
0001-6314
DOI
10.1111/j.1600-0404.1987.tb03553.x
language
English
LU publication?
yes
id
091092f4-7abb-462b-aa3c-dbe9668adf14
date added to LUP
2021-10-26 15:11:56
date last changed
2024-08-12 01:02:24
@article{091092f4-7abb-462b-aa3c-dbe9668adf14,
  abstract     = {{<p>Hereditary CNS amyloid angiopathy occurring in Icelanders is the first human disorder known to be caused by deposition of cystatin C amyloid fibrils in the walls of the brain arteries leading to single or or multiple strokes with fatal outcome. One or more affected members have been verified by histological examination in 8 families containing 127 affected. These originated from the same geographic area. Abnormally low value of cystatin C found in the cerebrospinal fluid of those affected can be used to support or make diagnosis of this disease, also in asymptomatic relatives. By amino acid sequence analysis the amyloid fibrils in the patients are found to be a variant of cystatin C (gamma-trace), a major cysteine proteinase inhibitor. The variant protein has an amino acid substitution (glutamine for leucine) at position 58 in the amyloid molecule. It is postulated that a point mutation has occurred leading to production of amyloidogenic protein causing the disorder.</p>}},
  author       = {{Jensson, O and Gudmundsson, G and Arnason, A and Blöndal, H and Petursdottir, I and Thorsteinsson, L and Grubb, A and Löfberg, H and Cohen, D and Frangione, B}},
  issn         = {{0001-6314}},
  keywords     = {{Amyloid/metabolism; Amyloidosis/genetics; Brain/pathology; Cerebral Hemorrhage/genetics; Cerebrovascular Disorders/genetics; Cystatin C; Cystatins; Female; Humans; Iceland; Male; Pedigree; Proteins/metabolism}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{102--114}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Acta Neurologica Scandinavica}},
  title        = {{Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage}},
  url          = {{http://dx.doi.org/10.1111/j.1600-0404.1987.tb03553.x}},
  doi          = {{10.1111/j.1600-0404.1987.tb03553.x}},
  volume       = {{76}},
  year         = {{1987}},
}