KEGG   DISEASE: Cerebral amyloid angiopathy
Entry
H01185                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H01185  Cerebral amyloid angiopathy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Other metabolic disorders
    5D00  Amyloidosis
     H01185  Cerebral amyloid angiopathy
Related
pathway
hsa04726  Serotonergic synapse
Gene
CST3 [HSA:1471] [KO:K13899]
APP [HSA:351] [KO:K04520]
Other DBs
ICD-11: 5D00.0
MeSH: D016657
OMIM: 105150 605714
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)
DOI:10.1001/archneurol.2010.178
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)
DOI:10.1111/j.1750-3639.2006.tb00561.x
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