ABeta amyloidosis, Iowa type

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ABeta amyloidosis, Iowa type

Synonyms: ABetaD23N amyloidosis | HCHWA, Iowa type | Hereditary cerebral hemorrhage with amyloidosis, Iowa type

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 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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ABeta amyloidosis, Iowa type?

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