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Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Orpha number ORPHA324723
Synonym(s) HCHWA, Arctic 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), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.

It has been described in one Swedish family.

HCHWA, Arctic 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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