Abstract
Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder causing fatal brain hemorrhages in normotensive young adults. Nucleotide substitution in the gene encoding the cysteine proteinase inhibitor, cystatin C, gives rise to a structurally unstable variant protein with increased tendency to dimerize, aggregate and form amyloid depositions, primarily in the walls of small arteries and arterioles of the brain. In the following chapter the epidemiology, clinical aspects, pathology, molecular biology and pathophysiology of HCCAA are reviewed.
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