ABeta amyloidosis, Arctic type

Orpha code: 324723OMIM code: 605714

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
ABetaE22G amyloidosis
Amyloidoza ABetaE22G
Dziedziczny krwotok mózgowy z amyloidozą, typ arktyczny
HCHWA, typ arktyczny
HCHWA, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
ORPHA code
324723
OMIM code
605714
ICD10 code
I68.0*
ICD11 code
-

No additional description.

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