Medicine:Hereditary cystatin C amyloid angiopathy
| Hereditary cystatin C amyloid angiopathy | |
|---|---|
| Other names | Hereditary cerebral hemorrhage with amyloidosis |
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| 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]
References
- ↑ "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. May 1989. doi:10.1084/jem.169.5.1771. 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.
- ↑ 3.0 3.1 A, Palsdottir; Ao, Snorradottir; L, Thorsteinsson (Jan 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. PMID 16612982.
- ↑ "Hvað getið þið sagt mér um arfgeng heilablóðföll?" (in is). http://www.visindavefur.is/svar.php?id=5987.
- ↑ "Arfgeng heilablæðing í fimm fjölskyldum - RÚV.is". https://www.ruv.is/frettir/innlent/arfgeng-heilablaeding-i-fimm-fjolskyldum/.
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