Hereditary cystatin C (γ-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage
| Autor: | H. Blondal, A. Arnason, B. Frangione, Daniel H. Cohen, I. Petursdottir, O. Jensson, Anders Grubb, Helge Löfberg, G Gudmundsson, Leifur Thorsteinsson |
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| Rok vydání: | 1987 |
| Předmět: |
Male
Amyloid Pathology medicine.medical_specialty Iceland Angiopathy Cerebrospinal fluid medicine Humans Cystatin C Cerebral Hemorrhage biology Chemistry Point mutation Brain Proteins Amyloidosis General Medicine medicine.disease Hereditary cystatin C amyloid angiopathy Cystatins Pedigree Glutamine Cerebrovascular Disorders Neurology biology.protein Female Neurology (clinical) Leucine |
| Zdroj: | Acta Neurologica Scandinavica. 76:102-114 |
| ISSN: | 1600-0404 0001-6314 |
| DOI: | 10.1111/j.1600-0404.1987.tb03553.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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