A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. In Iceland, this condition is caused by the L68Q mutation in the cystatin C gene, with contemporary carriers reaching an average age of...

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Main Authors: Astridur Palsdottir, Agnar Helgason, Snaebjorn Palsson, Hans Tomas Bjornsson, Birkir Thor Bragason, Solveig Gretarsdottir, Unnur Thorsteinsdottir, Elias Olafsson, Kari Stefansson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-06-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2409978?pdf=render