| H01185 | |
| H number | H01185 |
| Name | Cerebral amyloid angiopathy; Hereditary cerebral hemorrhage with amyloidosis |
| Description | Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated with aging, several familial forms of CAA reported to date. Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases. It has also been reported that mutations in APP are linked to CAA. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | CST3 [HSA:1471] [KO:K13899] APP [HSA:351] [KO:K04520] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5D00.0 MeSH: D016657 OMIM: 105150 605714 |
| Reference | PMID:20697050 AUTHORS Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, Padovani A, Tagliavini F TITLE Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. JOURNAL Arch Neurol 67:987-95 (2010) DOI:10.1001/archneurol.2010.178 PMID:16612982 AUTHORS Palsdottir A, Snorradottir AO, Thorsteinsson L TITLE Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects. JOURNAL Brain Pathol 16:55-9 (2006) DOI:10.1111/j.1750-3639.2006.tb00561.x |