ABeta amyloidosis, Arctic type

Orpha code: 324723OMIM code: 605714

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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