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Абета-амілоїдоз, італійський тип

ORPHA:324713· ICD-10 I68.0*· ABeta amyloidosis, Italian type

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adult, Elderly