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ABeta amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) 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.
ORPHA:324708Classification level: Subtype of disorder
- ABetaD23N amyloidosis
- HCHWA, Iowa type
- Hereditary cerebral hemorrhage with amyloidosis, Iowa type
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Elderly
- ICD-10: E85.4+ I68.0*
- OMIM: 605714
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in one American and one Spanish family.
HCHWA, Iowa type is due to a mutation in the APP gene on chromosome 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.
Transmission is autosomal dominant.
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