The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland.
Firstly, we review investigations of hereditary cystatin C amyloid angiopathy, which is caused by a mutation in the cystatin C gene. Symptoms of brain haemorrhages, which lead to death in young adults, are the hallmark of this disorder. The mutation can now be detected by the RFLP method using Alu I restriction enzyme and cystatin C cDNA probe. Secondly, we give an overview of other clinical genetic studies in Iceland with emphasis on activities initiated or sponsored by the Genetical Committee of the University of Iceland. The list of references covers most publications on genetic studies of Icelanders.
Jensson
O
O
Blood Bank, National University Hospital, Reykjavik, Iceland.
Palsdottir
A
A
Thorsteinsson
L
L
Arnason
A
A
D000686:Amyloidosis / Q000150:complications / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000209:etiology* / Q000235:genetics; D002556:Cerebrospinal Fluid Proteins / Q000235:genetics*; D002561:Cerebrovascular Disorders / Q000150:complications / Q000235:genetics*; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D005826:Genetics, Medical; D006801:Humans; D007055:Iceland; D009154:Mutation
C525030:CST3 protein, human; D002556:Cerebrospinal Fluid Proteins; D055316:Cystatin C; D015891:Cystatins