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Hereditary cystatin...
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage
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- Jensson, O (author)
- National University Hospital of Iceland
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- Gudmundsson, G (author)
- National University Hospital of Iceland
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- Arnason, A (author)
- National University Hospital of Iceland
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- Blöndal, H (author)
- National University Hospital of Iceland
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- Petursdottir, I (author)
- National University Hospital of Iceland
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- Thorsteinsson, L (author)
- National University Hospital of Iceland
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- Grubb, A (author)
- Lund University,Lunds universitet,Avdelningen för klinisk kemi och farmakologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,Cystatin C, njursjukdom, amyloidos och antibiotika,Forskargrupper vid Lunds universitet,Division of Clinical Chemistry and Pharmacology,Department of Laboratory Medicine,Faculty of Medicine,Cystatin C, renal disease, amyloidosis and antibiotics,Lund University Research Groups,Skåne University Hospital
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- Löfberg, H (author)
- Lund University,Lunds universitet,Patologi, Malmö,Forskargrupper vid Lunds universitet,Pathology, Malmö,Lund University Research Groups
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- Cohen, D (author)
- New York University Medical Center/ Tisch Hospital
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- Frangione, B (author)
- New York University Medical Center/ Tisch Hospital
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(creator_code:org_t)
- Hindawi Limited, 1987
- 1987
- English.
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In: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 76:2, s. 102-114
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Farmakologi och toxikologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Pharmacology and Toxicology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Läkemedelskemi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medicinal Chemistry (hsv//eng)
Keyword
- Amyloid/metabolism
- Amyloidosis/genetics
- Brain/pathology
- Cerebral Hemorrhage/genetics
- Cerebrovascular Disorders/genetics
- Cystatin C
- Cystatins
- Female
- Humans
- Iceland
- Male
- Pedigree
- Proteins/metabolism
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Jensson, O
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Gudmundsson, G
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Arnason, A
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Blöndal, H
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Petursdottir, I
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Thorsteinsson, L
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show more...
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Grubb, A
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Löfberg, H
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Cohen, D
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Frangione, B
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Pharmacology and ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medicinal Chemis ...
- Articles in the publication
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Acta Neurologica ...
- By the university
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Lund University