Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the <i>APP</i> 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 ABetaD23N amyloidosis Amyloidoza ABetaD23N Dziedziczny krwotok mózgowy z amyloidozą, typ Iowa HCHWA, typ Iowa HCHWA, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type ORPHA code 324708 OMIM code 605714 ICD10 code I68.0* ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl