ABeta amyloidosis, Italian type

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Name:
ABeta amyloidosis, Italian type
Description:
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. 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:
324713
Synonyms:
ABetaE22K amyloidosis
HCHWA, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14