Global InformationHereditary cystatin C amyloid angiopathy information
| Hereditary cystatin C amyloid angiopathy | |
|---|---|
| Other names | 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 type of hereditary cerebral amyloid angiopathy found almost exclusively in Iceland. A mutation in the protein cystatin C leads to amyloid (protein aggregate) dispositions in arteries in the brain, resulting in repeated brain hemorrhages.[1][2]
The condition is inherited in an autosomal dominant fashion. All known cases have occurred in Iceland — most can be traced to Breiðafjörður in the northwest of Iceland[3] — with the exception of one patient in the US with a sporadic mutation.[4]
Symptoms are related to brain hemorrhage and include dementia and paralysis. They typically appear in the late teens or early twenties, with the average age of death being around 30.[3] As of 2019, around 20 to 30 carriers are thought to be alive.[5]
- ^ 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 2189307. 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. PMC 8095742. PMID 16612983.
- ^ a b A, Palsdottir; Ao, Snorradottir; L, Thorsteinsson (January 2006). "Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects". Brain Pathol. 16 (1): 55–9. doi:10.1111/j.1750-3639.2006.tb00561.x. PMC 8095917. PMID 16612982.
- ^ "Hvað getið þið sagt mér um arfgeng heilablóðföll?". Vísindavefurinn (in Icelandic). Retrieved 30 October 2023.
- ^ "Arfgeng heilablæðing í fimm fjölskyldum — RÚV.is". RÚV. Retrieved 30 October 2023.