Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage
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 hist...
Published in: | Acta Neurologica Scandinavica |
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Language: | English |
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Wiley-Blackwell
1987
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Online Access: | https://lup.lub.lu.se/record/091092f4-7abb-462b-aa3c-dbe9668adf14 https://doi.org/10.1111/j.1600-0404.1987.tb03553.x |
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ftulundlup:oai:lup.lub.lu.se:091092f4-7abb-462b-aa3c-dbe9668adf14 2024-02-11T10:05:09+01:00 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 Löfberg, H Cohen, D Frangione, B 1987 https://lup.lub.lu.se/record/091092f4-7abb-462b-aa3c-dbe9668adf14 https://doi.org/10.1111/j.1600-0404.1987.tb03553.x eng eng Wiley-Blackwell https://lup.lub.lu.se/record/091092f4-7abb-462b-aa3c-dbe9668adf14 http://dx.doi.org/10.1111/j.1600-0404.1987.tb03553.x pmid:3673496 scopus:0023177469 Acta Neurologica Scandinavica; 76(2), pp 102-114 (1987) ISSN: 0001-6314 Pharmacology and Toxicology Medicinal Chemistry Amyloid/metabolism Amyloidosis/genetics Brain/pathology Cerebral Hemorrhage/genetics Cerebrovascular Disorders/genetics Cystatin C Cystatins Female Humans Iceland Male Pedigree Proteins/metabolism contributiontojournal/article info:eu-repo/semantics/article text 1987 ftulundlup https://doi.org/10.1111/j.1600-0404.1987.tb03553.x 2024-01-17T23:29:41Z 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. Article in Journal/Newspaper Iceland Lund University Publications (LUP) Acta Neurologica Scandinavica 76 2 102 114 |
institution |
Open Polar |
collection |
Lund University Publications (LUP) |
op_collection_id |
ftulundlup |
language |
English |
topic |
Pharmacology and Toxicology Medicinal Chemistry Amyloid/metabolism Amyloidosis/genetics Brain/pathology Cerebral Hemorrhage/genetics Cerebrovascular Disorders/genetics Cystatin C Cystatins Female Humans Iceland Male Pedigree Proteins/metabolism |
spellingShingle |
Pharmacology and Toxicology Medicinal Chemistry Amyloid/metabolism Amyloidosis/genetics Brain/pathology Cerebral Hemorrhage/genetics Cerebrovascular Disorders/genetics Cystatin C Cystatins Female Humans Iceland Male Pedigree Proteins/metabolism Jensson, O Gudmundsson, G Arnason, A Blöndal, H Petursdottir, I Thorsteinsson, L Grubb, A Löfberg, H Cohen, D Frangione, B Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage |
topic_facet |
Pharmacology and Toxicology Medicinal Chemistry Amyloid/metabolism Amyloidosis/genetics Brain/pathology Cerebral Hemorrhage/genetics Cerebrovascular Disorders/genetics Cystatin C Cystatins Female Humans Iceland Male Pedigree Proteins/metabolism |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Jensson, O Gudmundsson, G Arnason, A Blöndal, H Petursdottir, I Thorsteinsson, L Grubb, A Löfberg, H Cohen, D Frangione, B |
author_facet |
Jensson, O Gudmundsson, G Arnason, A Blöndal, H Petursdottir, I Thorsteinsson, L Grubb, A Löfberg, H Cohen, D Frangione, B |
author_sort |
Jensson, O |
title |
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage |
title_short |
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage |
title_full |
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage |
title_fullStr |
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage |
title_full_unstemmed |
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage |
title_sort |
hereditary cystatin c (gamma-trace) amyloid angiopathy of the cns causing cerebral hemorrhage |
publisher |
Wiley-Blackwell |
publishDate |
1987 |
url |
https://lup.lub.lu.se/record/091092f4-7abb-462b-aa3c-dbe9668adf14 https://doi.org/10.1111/j.1600-0404.1987.tb03553.x |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Acta Neurologica Scandinavica; 76(2), pp 102-114 (1987) ISSN: 0001-6314 |
op_relation |
https://lup.lub.lu.se/record/091092f4-7abb-462b-aa3c-dbe9668adf14 http://dx.doi.org/10.1111/j.1600-0404.1987.tb03553.x pmid:3673496 scopus:0023177469 |
op_doi |
https://doi.org/10.1111/j.1600-0404.1987.tb03553.x |
container_title |
Acta Neurologica Scandinavica |
container_volume |
76 |
container_issue |
2 |
container_start_page |
102 |
op_container_end_page |
114 |
_version_ |
1790602037268840448 |