Hereditary cystatin C (γ-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage
- 1 August 1987
- journal article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 76 (2), 102-114
- https://doi.org/10.1111/j.1600-0404.1987.tb03553.x
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 (γ‐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.Keywords
This publication has 24 references indexed in Scilit:
- Abnormal Metabolism of γ-Trace Alkaline MicroproteinNew England Journal of Medicine, 1984
- The place of human γ-trace (cystatin C) amongst the cysteine proteinase inhibitorsBiochemical and Biophysical Research Communications, 1984
- Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace.The Journal of Experimental Medicine, 1983
- Human gamma-trace, a basic microprotein: amino acid sequence and presence in the adenohypophysis.Proceedings of the National Academy of Sciences, 1982
- A variant of prealbumin from amyloid fibrils in familial polyneuropathy of Jewish origin.The Journal of Experimental Medicine, 1981
- Senile Cardiac Amyloid is Related to PrealbuminScandinavian Journal of Immunology, 1980
- Amyloid Deposits and AmyloidosisNew England Journal of Medicine, 1980
- HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSISBrain, 1972
- SENILE CEREBRAL, PANCREATIC INSULAR AND CARDIAC AMYLOIDOSIS*Transactions of the New York Academy of Sciences, 1965
- Apoplexie und ihre VererbungThe Journal of Nervous and Mental Disease, 1936