KEGG   DISEASE: H01185Help
Entry
H01185                      Disease                                

Name
Cerebral amyloid angiopathy (CAA);
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
BRITE hierarchy
Pathway
Serotonergic synapse
Gene
CST3 [HSA:1471] [KO:K13899]
APP [HSA:351] [KO:K04520]
Other DBs
MeSH: 
OMIM: 
Reference
  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)
Reference
  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)

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