H01184 | |
H number | H01184 |
Name | Familial dementia |
Description | Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI/ ITM2B gene. Familial dementia is characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid deposition, and neurofibrillary tangles. |
Category | Neurodegenerative disease |
Network | - |
Gene | ITM2B [HSA:9445] [KO:K18264] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8B22.3 ICD-10: G31.0 MeSH: D003704 OMIM: 176500 117300 |
Reference | PMID:19779737 AUTHORS Garringer HJ, Murrell J, D'Adamio L, Ghetti B, Vidal R TITLE Modeling familial British and Danish dementia. JOURNAL Brain Struct Funct 214:235-44 (2010) DOI:10.1007/s00429-009-0221-9 |