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causing amyloid angiopathy and brain hemorrhage ‐ clinical genetics in Iceland
Author(s) -
Jensson Olafur,
Palsdottir Astridur,
Thorsteinsson Leifur,
Arnason Alfred
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03215.x
Subject(s) - cystatin c , mutation , genetics , cerebral amyloid angiopathy , biology , amyloidosis , medicine , gene , pathology , endocrinology , disease , renal function , dementia
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.