KEGG   DISEASE: 脳アミロイド血管症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   その他の代謝疾患
    5D00  アミロイドーシス
     H01185  脳アミロイド血管症
パスウェイ 
hsa04726  Serotonergic synapse
病因遺伝子 
CST3 [HSA:1471] [KO:K13899]
APP [HSA:351] [KO:K04520]
リンク   
ICD-11: 5D00.0
MeSH: D016657
OMIM: 105150 605714
文献    
  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
文献    
  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
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