Hereditary cystatin C amyloid angiopathy
|Hereditary cystatin C amyloid angiopathy|
|Synonyms||Hereditary cerebral hemorrhage with amyloidosis|
|Cystatin C(or Cystatin 3) which is involved in this condition|
Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C. Most of the families with the defect gene can be traced to a region in the northwest of Iceland, around Breiðafjörður.
Mutations in the cystatin 3 gene are responsible for the Icelandic type of hereditary cerebral amyloid angiopathy, a condition predisposing to intracerebral haemorrhage, stroke and dementia. The condition is inherited in a dominant fashion.
- "Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects". Brain Pathol. 16 (1): 55–9. Jan 2006. doi:10.1111/j.1750-3639.2006.tb00561.x. PMID 16612982.
- Levy E, Lopez-Otin C, Ghiso J, Geltner D, Frangione B (May 1989). "Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases". J. Exp. Med. 169 (5): 1771–8. doi:10.1084/jem.169.5.1771. PMC . PMID 2541223.
- Levy, E; Jaskolski, M; Grubb, A (January 2006). "The role of cystatin C in cerebral amyloid angiopathy and stroke: cell biology and animal models". Brain Pathol. 16 (1): 60–70. doi:10.1111/j.1750-3639.2006.tb00562.x. PMID 16612983.