ABeta amyloidosis, Arctic type

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Name:
ABeta amyloidosis, Arctic type
Description:
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
ORPHAcode:
324723
Synonyms:
ABetaE22G amyloidosis
HCHWA, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14