[From gene to disease; amyloid-beta precursor protein gene instrumental in hereditary cerebral amyloid angiopathies].
Hereditary cerebral haemorrhage with amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant disease caused by a mutation in the amyloid precursor protein gene on chromosome 21. The disease is characterised by amyloid deposition in cerebral blood vessels, which results in cerebral haemorrhages, leucencephalopathy, dementia and death. In the same gene, mutations have also been found for other rare diseases which also result in dementia and haemorrhages, as well as familial Alzheimer's disease (different mutations in different families). The majority of familial Alzheimer cases, however, are associated with mutations in the PS1 gene (more than 70 different mutations) or the PS2 gene (4 mutations).
Haan
J
J
Afd. Neurologie, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
Bakker
E
E
Bornebroek
M
M
Roos
R A
RA
D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003704:Dementia / Q000235:genetics; D006801:Humans; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology
D016564:Amyloid beta-Protein Precursor