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Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Orpha number ORPHA324708
Synonym(s) HCHWA, Iowa type
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • E85.4+
  • I68.0*
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

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.

Expert reviewer(s)

  • Dr Joost HAAN
  • Dr Gisela TERWINDT

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Detailed information

Summary information
Review article
  • EN (2011)Patient Inform
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