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ABeta amyloidosis, Arctic type

Synonym(s) ABetaE22G amyloidosis
HCHWA, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
  • E85.4+
  • I68.0*
MeSH -
MedDRA -


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 G.M. [Gisela] TERWINDT

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