| H01185 | |
| H番号 | H01185 |
| 名称 | 脳アミロイド血管症 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | CST3 [HSA:1471] [KO:K13899] APP [HSA:351] [KO:K04520] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5D00.0 MeSH: D016657 OMIM: 105150 605714 |
| 文献 | PMID:20697050 著者 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 タイトル Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. 雑誌 Arch Neurol 67:987-95 (2010) DOI:10.1001/archneurol.2010.178 PMID:16612982 著者 Palsdottir A, Snorradottir AO, Thorsteinsson L タイトル Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects. 雑誌 Brain Pathol 16:55-9 (2006) DOI:10.1111/j.1750-3639.2006.tb00561.x |