Condition: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
rs28939068 in
CST3 gene and
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
PMID 1352269 1992 Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.
PMID 2541223 1989 Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases.